MID1 Chromosome X

Midline 1
75 variants 75 Health Risk

Upload your DNA to see your personal genotypes for variants in MID1.

What This Gene Does
The protein encoded by this gene is a member of the tripartite motif (TRIM) family, also known as the 'RING-B box-coiled coil' (RBCC) subgroup of RING finger proteins. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. This protein forms homodimers which associate with microtubules in the cytoplasm. The protein is likely involved in the formation of multiprotein structures acting as anchor points to microtubules. Mutations in this gene have been associated with the X-linked form of Opitz syndrome, which is characterized by midline abnormalities such as cleft lip, laryngeal cleft, heart defects, hypospadias, and agenesis of the corpus callosum. This gene was also the first example of a gene subject to X inactivation in human while escaping it in mouse. Alternative promoter use, alternative splicing and alternative polyadenylation result in multiple transcript variants that have different tissue specificities. [provided by RefSeq, Dec 2016]
Gene Info
Gene Group
"Ring finger proteins|Tripartite motif family|Fibronectin type III domain containing"
Locus Type
gene with protein product
Location
Xp22.2
Ensembl
ENSG00000101871
Associated Conditions (8)
Inborn genetic diseases
MID1-related disorder
X-linked Opitz G/BBB syndrome
History of neurodevelopmental disorder
Dandy-Walker syndrome
Thyroid cancer
nonmedullary
1
Key Variants
RS138558359
Conflicting classifications of pathogenicity
Inborn genetic diseases, MID1-related disorder, Inborn genetic diseases
Health Risk
RS138629923
Conflicting classifications of pathogenicity
Health Risk
RS1430919712
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS143416243
Conflicting classifications of pathogenicity
Health Risk
RS147106995
Conflicting classifications of pathogenicity
X-linked Opitz G/BBB syndrome, Inborn genetic diseases, X-linked Opitz G/BBB syndrome
Health Risk
RS1555905154
Conflicting classifications of pathogenicity
Health Risk
RS1556004400
Conflicting classifications of pathogenicity
Inborn genetic diseases, X-linked Opitz G/BBB syndrome, Inborn genetic diseases
Health Risk
RS201845920
Conflicting classifications of pathogenicity
Health Risk
RS370465458
Conflicting classifications of pathogenicity
X-linked Opitz G/BBB syndrome, Inborn genetic diseases, X-linked Opitz G/BBB syndrome
Health Risk
RS374851071
Conflicting classifications of pathogenicity
History of neurodevelopmental disorder, History of neurodevelopmental disorder
Health Risk
RS398123341
Conflicting classifications of pathogenicity
Health Risk
RS727504015
Conflicting classifications of pathogenicity
Health Risk
All Variants (75)
RSID Category Clinical Significance Conditions
RS138558359 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, MID1-related disorder, Inborn genetic diseases
RS138629923 Health Risk Conflicting classifications of pathogenicity —
RS1430919712 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS143416243 Health Risk Conflicting classifications of pathogenicity —
RS147106995 Health Risk Conflicting classifications of pathogenicity X-linked Opitz G/BBB syndrome, Inborn genetic diseases, X-linked Opitz G/BBB syndrome
RS1555905154 Health Risk Conflicting classifications of pathogenicity —
RS1556004400 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, X-linked Opitz G/BBB syndrome, Inborn genetic diseases
RS201845920 Health Risk Conflicting classifications of pathogenicity —
RS370465458 Health Risk Conflicting classifications of pathogenicity X-linked Opitz G/BBB syndrome, Inborn genetic diseases, X-linked Opitz G/BBB syndrome
RS374851071 Health Risk Conflicting classifications of pathogenicity History of neurodevelopmental disorder, History of neurodevelopmental disorder
RS398123341 Health Risk Conflicting classifications of pathogenicity —
RS727504015 Health Risk Conflicting classifications of pathogenicity —
RS750022332 Health Risk Conflicting classifications of pathogenicity —
RS755644971 Health Risk Conflicting classifications of pathogenicity X-linked Opitz G/BBB syndrome, X-linked Opitz G/BBB syndrome
RS755985917 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, X-linked Opitz G/BBB syndrome, Inborn genetic diseases
RS765698306 Health Risk Conflicting classifications of pathogenicity —
RS767075372 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS767500744 Health Risk Conflicting classifications of pathogenicity X-linked Opitz G/BBB syndrome, X-linked Opitz G/BBB syndrome
RS780339406 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS780880323 Health Risk Conflicting classifications of pathogenicity X-linked Opitz G/BBB syndrome, X-linked Opitz G/BBB syndrome
RS781707475 Health Risk Conflicting classifications of pathogenicity —
RS797045704 Health Risk Conflicting classifications of pathogenicity —
RS1555894390 Health Risk Likely pathogenic X-linked Opitz G/BBB syndrome, X-linked Opitz G/BBB syndrome
RS1555895725 Health Risk Likely pathogenic X-linked Opitz G/BBB syndrome, X-linked Opitz G/BBB syndrome, X-linked Opitz G/BBB syndrome
RS1556001856 Health Risk Likely pathogenic X-linked Opitz G/BBB syndrome, X-linked Opitz G/BBB syndrome
RS1556001968 Health Risk Likely pathogenic X-linked Opitz G/BBB syndrome, X-linked Opitz G/BBB syndrome
RS1556003200 Health Risk Likely pathogenic X-linked Opitz G/BBB syndrome, X-linked Opitz G/BBB syndrome
RS1569270016 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1928556991 Health Risk Likely pathogenic X-linked Opitz G/BBB syndrome, X-linked Opitz G/BBB syndrome
RS1929600096 Health Risk Likely pathogenic X-linked Opitz G/BBB syndrome, X-linked Opitz G/BBB syndrome
RS2147252300 Health Risk Likely pathogenic X-linked Opitz G/BBB syndrome, X-linked Opitz G/BBB syndrome
RS2147252384 Health Risk Likely pathogenic X-linked Opitz G/BBB syndrome, X-linked Opitz G/BBB syndrome
RS2147266860 Health Risk Likely pathogenic X-linked Opitz G/BBB syndrome, X-linked Opitz G/BBB syndrome
RS2147299486 Health Risk Likely pathogenic X-linked Opitz G/BBB syndrome, X-linked Opitz G/BBB syndrome
RS2518959444 Health Risk Likely pathogenic MID1-related disorder, MID1-related disorder
RS2518959446 Health Risk Likely pathogenic —
RS2518960109 Health Risk Likely pathogenic X-linked Opitz G/BBB syndrome, X-linked Opitz G/BBB syndrome
RS2518968860 Health Risk Likely pathogenic MID1-related disorder, MID1-related disorder
RS2518993366 Health Risk Likely pathogenic X-linked Opitz G/BBB syndrome, X-linked Opitz G/BBB syndrome
RS2519200663 Health Risk Likely pathogenic —
RS2519200725 Health Risk Likely pathogenic —
RS398123342 Health Risk Likely pathogenic X-linked Opitz G/BBB syndrome, X-linked Opitz G/BBB syndrome, X-linked Opitz G/BBB syndrome
RS104894865 Health Risk Pathogenic X-linked Opitz G/BBB syndrome, X-linked Opitz G/BBB syndrome
RS104894866 Health Risk Pathogenic X-linked Opitz G/BBB syndrome, X-linked Opitz G/BBB syndrome
RS1555895704 Health Risk Pathogenic Dandy-Walker syndrome, X-linked Opitz G/BBB syndrome, Dandy-Walker syndrome
RS1555899082 Health Risk Pathogenic —
RS1556002004 Health Risk Pathogenic —
RS1556003095 Health Risk Pathogenic X-linked Opitz G/BBB syndrome, X-linked Opitz G/BBB syndrome
RS1556004366 Health Risk Pathogenic X-linked Opitz G/BBB syndrome, X-linked Opitz G/BBB syndrome
RS1556004404 Health Risk Pathogenic —
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