PHIP Chromosome 6

PHIP subunit of CUL4-Ring ligase complex

166 variants 166 Health Risk

Upload your DNA to see your personal genotypes for variants in PHIP.

What This Gene Does

This gene encodes a protein that binds to the insulin receptor substrate 1 protein and regulates glucose transporter translocation in skeletal muscle cells. The encoded protein may also regulate growth and survival of pancreatic beta cells. Elevated copy number of this gene may be associated with melanoma severity and the encoded protein may promote melanoma metastasis in human patients. [provided by RefSeq, Oct 2016]

Gene Info

Gene Group

Bromodomain and WD repeat domain containing

Locus Type

gene with protein product

Location

6q14.1

Ensembl

ENSG00000146247

Associated Conditions (12)

PHIP-related disorder

Early onset severe obesity

Inborn genetic diseases

PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome

Intellectual disability

X-linked 102

Rare genetic intellectual disability

See cases

Neurodevelopmental delay

Schizophrenia

Colorectal cancer

Syndromic intellectual disability

Key Variants

RS1216420598

Conflicting classifications of pathogenicity

Health Risk

RS1258760779

Conflicting classifications of pathogenicity

Inborn genetic diseases, Inborn genetic diseases

Health Risk

RS1369466541

Conflicting classifications of pathogenicity

Health Risk

RS147542012

Conflicting classifications of pathogenicity

Inborn genetic diseases, Inborn genetic diseases

Health Risk

RS149110742

Conflicting classifications of pathogenicity

Health Risk

RS1554193405

Conflicting classifications of pathogenicity

Health Risk

RS1771389382

Conflicting classifications of pathogenicity

Health Risk

RS1774230017

Conflicting classifications of pathogenicity

Health Risk

RS200004724

Conflicting classifications of pathogenicity

Inborn genetic diseases, PHIP-related disorder, Inborn genetic diseases

Health Risk

RS200020269

Conflicting classifications of pathogenicity

Inborn genetic diseases, PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome, Inborn genetic diseases

Health Risk

RS202187736

Conflicting classifications of pathogenicity

Inborn genetic diseases, PHIP-related disorder, Inborn genetic diseases

Health Risk

RS2482046323

Conflicting classifications of pathogenicity

Inborn genetic diseases, Inborn genetic diseases

Health Risk

All Variants (166)

RSID	Category	Clinical Significance	Conditions
RS1772296823	Health Risk	Likely pathogenic	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome, PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
RS1773759539	Health Risk	Likely pathogenic	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome, PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
RS1773793203	Health Risk	Likely pathogenic	—
RS200515013	Health Risk	Likely pathogenic	PHIP-related disorder, PHIP-related disorder
RS2127682146	Health Risk	Likely pathogenic	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome, PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
RS2127701393	Health Risk	Likely pathogenic	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome, PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
RS2127705231	Health Risk	Likely pathogenic	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome, PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
RS2127714980	Health Risk	Likely pathogenic	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome, PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
RS2127718540	Health Risk	Likely pathogenic	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome, PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome, PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
RS2127718655	Health Risk	Likely pathogenic	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome, PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
RS2127740492	Health Risk	Likely pathogenic	Neurodevelopmental delay, Neurodevelopmental delay
RS2127740526	Health Risk	Likely pathogenic	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome, PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
RS2127740900	Health Risk	Likely pathogenic	—
RS2127741611	Health Risk	Likely pathogenic	See cases, See cases
RS2127760440	Health Risk	Likely pathogenic	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome, PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
RS2127785060	Health Risk	Likely pathogenic	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome, PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
RS2481766764	Health Risk	Likely pathogenic	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome, PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
RS2481878453	Health Risk	Likely pathogenic	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome, PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
RS2481892793	Health Risk	Likely pathogenic	—
RS2481897981	Health Risk	Likely pathogenic	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome, PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
RS2481898452	Health Risk	Likely pathogenic	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome, PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
RS2481962808	Health Risk	Likely pathogenic	PHIP-related disorder, PHIP-related disorder
RS2482006630	Health Risk	Likely pathogenic	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome, PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
RS2482042261	Health Risk	Likely pathogenic	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome, PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
RS2482078529	Health Risk	Likely pathogenic	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome, PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
RS2482131190	Health Risk	Likely pathogenic	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome, PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
RS2482131205	Health Risk	Likely pathogenic	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome, PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
RS2482131234	Health Risk	Likely pathogenic	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome, PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
RS2482131696	Health Risk	Likely pathogenic	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome, PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
RS2482131715	Health Risk	Likely pathogenic	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome, PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
RS2482135705	Health Risk	Likely pathogenic	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome, PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
RS2482141216	Health Risk	Likely pathogenic	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome, PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
RS2482185738	Health Risk	Likely pathogenic	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome, PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
RS2482268520	Health Risk	Likely pathogenic	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome, PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
RS2482349062	Health Risk	Likely pathogenic	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome, PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
RS2482349159	Health Risk	Likely pathogenic	See cases, See cases
RS2482350320	Health Risk	Likely pathogenic	—
RS2482424972	Health Risk	Likely pathogenic	—
RS2482425097	Health Risk	Likely pathogenic	—
RS755604487	Health Risk	Likely pathogenic	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome, PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
RS757721869	Health Risk	Likely pathogenic	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome, PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
RS762857737	Health Risk	Likely pathogenic	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome, PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
RS780615780	Health Risk	Likely pathogenic	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome, PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
RS878854420	Health Risk	Likely pathogenic	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome, PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome, PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
RS878854421	Health Risk	Likely pathogenic	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome, PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
RS1034722602	Health Risk	Pathogenic	—
RS1064796911	Health Risk	Pathogenic	—
RS1187732102	Health Risk	Pathogenic	—
RS1269841240	Health Risk	Pathogenic	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome, PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
RS1473613198	Health Risk	Pathogenic	—

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