FAT4 Chromosome 4

FAT atypical cadherin 4

175 variants 175 Health Risk

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What This Gene Does

The protein encoded by this gene is a member of the protocadherin family. This gene may play a role in regulating planar cell polarity (PCP). Studies in mice suggest that loss of PCP signaling may cause cystic kidney disease, and mutations in this gene have been associated with Van Maldergem Syndrome 2. Alternatively spliced transcript variants have been noted for this gene. [provided by RefSeq, Mar 2014]

Gene Info

Gene Group

Cadherin related

Locus Type

gene with protein product

Location

4q28.1

Ensembl

ENSG00000196159

Associated Conditions (11)

FAT4-related disorder

Inborn genetic diseases

Hennekam lymphangiectasia-lymphedema syndrome 2

Van Maldergem syndrome 2

Colorectal cancer

Irido-corneo-trabecular dysgenesis

Anophthalmia-microphthalmia syndrome

Congenital chromosomal disease

Gastric cancer

Intellectual disability

Van Maldergem syndrome

Key Variants

RS112101185

Conflicting classifications of pathogenicity

Health Risk

RS112454576

Conflicting classifications of pathogenicity

Health Risk

RS116568645

Conflicting classifications of pathogenicity

Hennekam lymphangiectasia-lymphedema syndrome 2, FAT4-related disorder, Hennekam lymphangiectasia-lymphedema syndrome 2

Health Risk

RS1262944393

Conflicting classifications of pathogenicity

Van Maldergem syndrome 2, Hennekam lymphangiectasia-lymphedema syndrome 2, Van Maldergem syndrome 2

Health Risk

RS1357034003

Conflicting classifications of pathogenicity

Hennekam lymphangiectasia-lymphedema syndrome 2, Van Maldergem syndrome 2, Hennekam lymphangiectasia-lymphedema syndrome 2

Health Risk

RS1357511665

Conflicting classifications of pathogenicity

Health Risk

RS137954725

Conflicting classifications of pathogenicity

Inborn genetic diseases, Inborn genetic diseases

Health Risk

RS138019311

Conflicting classifications of pathogenicity

Health Risk

RS138173652

Conflicting classifications of pathogenicity

Hennekam lymphangiectasia-lymphedema syndrome 2, Van Maldergem syndrome 2, Hennekam lymphangiectasia-lymphedema syndrome 2

Health Risk

RS138275098

Conflicting classifications of pathogenicity

Health Risk

RS138655269

Conflicting classifications of pathogenicity

Van Maldergem syndrome 2, FAT4-related disorder, Van Maldergem syndrome 2

Health Risk

RS138655912

Conflicting classifications of pathogenicity

Inborn genetic diseases, Inborn genetic diseases

Health Risk

All Variants (175)

RSID	Category	Clinical Significance	Conditions
RS746792200	Health Risk	Conflicting classifications of pathogenicity	Van Maldergem syndrome 2, Hennekam lymphangiectasia-lymphedema syndrome 2, Gastric cancer
RS747348231	Health Risk	Conflicting classifications of pathogenicity	Hennekam lymphangiectasia-lymphedema syndrome 2, Van Maldergem syndrome 2, Hennekam lymphangiectasia-lymphedema syndrome 2
RS747531733	Health Risk	Conflicting classifications of pathogenicity	Inborn genetic diseases, FAT4-related disorder, Hennekam lymphangiectasia-lymphedema syndrome 2
RS748064828	Health Risk	Conflicting classifications of pathogenicity	Inborn genetic diseases, Inborn genetic diseases
RS751270131	Health Risk	Conflicting classifications of pathogenicity	Inborn genetic diseases, Inborn genetic diseases
RS752029128	Health Risk	Conflicting classifications of pathogenicity	Hennekam lymphangiectasia-lymphedema syndrome 2, Van Maldergem syndrome 2, Hennekam lymphangiectasia-lymphedema syndrome 2
RS752311257	Health Risk	Conflicting classifications of pathogenicity	Inborn genetic diseases, Inborn genetic diseases
RS753314680	Health Risk	Conflicting classifications of pathogenicity	FAT4-related disorder, FAT4-related disorder
RS753978592	Health Risk	Conflicting classifications of pathogenicity	Hennekam lymphangiectasia-lymphedema syndrome 2, Van Maldergem syndrome 2, Hennekam lymphangiectasia-lymphedema syndrome 2
RS753998777	Health Risk	Conflicting classifications of pathogenicity	Hennekam lymphangiectasia-lymphedema syndrome 2, Van Maldergem syndrome 2, Inborn genetic diseases
RS755536979	Health Risk	Conflicting classifications of pathogenicity	Inborn genetic diseases, Hennekam lymphangiectasia-lymphedema syndrome 2, Van Maldergem syndrome 2
RS756664489	Health Risk	Conflicting classifications of pathogenicity	Van Maldergem syndrome 2, Hennekam lymphangiectasia-lymphedema syndrome 2, Van Maldergem syndrome 2
RS757774648	Health Risk	Conflicting classifications of pathogenicity	Inborn genetic diseases, Hennekam lymphangiectasia-lymphedema syndrome 2, Van Maldergem syndrome 2
RS758101910	Health Risk	Conflicting classifications of pathogenicity	Van Maldergem syndrome 2, Hennekam lymphangiectasia-lymphedema syndrome 2, Van Maldergem syndrome 2
RS759931847	Health Risk	Conflicting classifications of pathogenicity	Inborn genetic diseases, Inborn genetic diseases
RS760377475	Health Risk	Conflicting classifications of pathogenicity	—
RS760398912	Health Risk	Conflicting classifications of pathogenicity	Anophthalmia-microphthalmia syndrome, Hennekam lymphangiectasia-lymphedema syndrome 2, Van Maldergem syndrome 2
RS762595829	Health Risk	Conflicting classifications of pathogenicity	Van Maldergem syndrome 2, Hennekam lymphangiectasia-lymphedema syndrome 2, Van Maldergem syndrome 2
RS763960674	Health Risk	Conflicting classifications of pathogenicity	FAT4-related disorder, Van Maldergem syndrome 2, Hennekam lymphangiectasia-lymphedema syndrome 2
RS764130442	Health Risk	Conflicting classifications of pathogenicity	Hennekam lymphangiectasia-lymphedema syndrome 2, Van Maldergem syndrome 2, Hennekam lymphangiectasia-lymphedema syndrome 2
RS766959653	Health Risk	Conflicting classifications of pathogenicity	Inborn genetic diseases, Inborn genetic diseases
RS767230275	Health Risk	Conflicting classifications of pathogenicity	Intellectual disability, Intellectual disability
RS767497964	Health Risk	Conflicting classifications of pathogenicity	Inborn genetic diseases, Inborn genetic diseases
RS767730943	Health Risk	Conflicting classifications of pathogenicity	FAT4-related disorder, Hennekam lymphangiectasia-lymphedema syndrome 2, Van Maldergem syndrome 2
RS769466698	Health Risk	Conflicting classifications of pathogenicity	Hennekam lymphangiectasia-lymphedema syndrome 2, Van Maldergem syndrome 2, Hennekam lymphangiectasia-lymphedema syndrome 2
RS76963800	Health Risk	Conflicting classifications of pathogenicity	Inborn genetic diseases, Inborn genetic diseases
RS770683738	Health Risk	Conflicting classifications of pathogenicity	Hennekam lymphangiectasia-lymphedema syndrome 2, Van Maldergem syndrome 2, Hennekam lymphangiectasia-lymphedema syndrome 2
RS770793156	Health Risk	Conflicting classifications of pathogenicity	Hennekam lymphangiectasia-lymphedema syndrome 2, Van Maldergem syndrome 2, Hennekam lymphangiectasia-lymphedema syndrome 2
RS776491302	Health Risk	Conflicting classifications of pathogenicity	Van Maldergem syndrome 2, Hennekam lymphangiectasia-lymphedema syndrome 2, Van Maldergem syndrome 2
RS778631726	Health Risk	Conflicting classifications of pathogenicity	Inborn genetic diseases, Van Maldergem syndrome 2, Inborn genetic diseases
RS780176625	Health Risk	Conflicting classifications of pathogenicity	Inborn genetic diseases, Inborn genetic diseases
RS781736766	Health Risk	Conflicting classifications of pathogenicity	Van Maldergem syndrome 2, Hennekam lymphangiectasia-lymphedema syndrome 2, Van Maldergem syndrome 2
RS79909102	Health Risk	Conflicting classifications of pathogenicity	Inborn genetic diseases, Van Maldergem syndrome 2, Hennekam lymphangiectasia-lymphedema syndrome 2
RS1064793943	Health Risk	Likely pathogenic	—
RS1085307886	Health Risk	Likely pathogenic	—
RS1553931042	Health Risk	Likely pathogenic	—
RS1735081763	Health Risk	Likely pathogenic	Van Maldergem syndrome 2, Van Maldergem syndrome 2
RS2126028189	Health Risk	Likely pathogenic	—
RS2126083898	Health Risk	Likely pathogenic	Hennekam lymphangiectasia-lymphedema syndrome 2, Hennekam lymphangiectasia-lymphedema syndrome 2
RS2530424559	Health Risk	Likely pathogenic	FAT4-related disorder, FAT4-related disorder
RS2530788030	Health Risk	Likely pathogenic	—
RS1014593243	Health Risk	Pathogenic	—
RS1243659384	Health Risk	Pathogenic	—
RS1264505521	Health Risk	Pathogenic	—
RS1734720424	Health Risk	Pathogenic	—
RS2125942518	Health Risk	Pathogenic	—
RS2126029076	Health Risk	Pathogenic	Van Maldergem syndrome 2, Van Maldergem syndrome 2
RS2530429152	Health Risk	Pathogenic	—
RS2530436946	Health Risk	Pathogenic	—
RS2530446944	Health Risk	Pathogenic	—

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