Deafness_Isolated
Gene: ADAMTS1EnsemblGeneIds (GRCh38): ENSG00000154734
EnsemblGeneIds (GRCh37): ENSG00000154734
OMIM: 605174, Gene2Phenotype
ADAMTS1 is in 2 panels
1 review
Paul De Fazio (Victorian Clinical Genetics Services)
Homozygous missense variant p.(Ser135Ala) identified in 3 affected siblings from a single consanguineous Pakistani family by WES. A fourth unaffected sibling was homozygous wild type. Variant is in gnomad (26 hets, 1 hom).
RNA expression studies show the gene is expressed in the mouse inner ear, but no functional studies were performed on the variant (in silico analysis only).
Sources: LiteratureCreated: 1 Feb 2022, 11:54 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Nonsyndromic genetic hearing loss MONDO:0019497, ADAMTS1-related
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Phenotypes
-
- Nonsyndromic genetic hearing loss MONDO:0019497, ADAMTS1-related
- OMIM
- 605174
- Clinvar variants
- Variants in ADAMTS1
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: adamts1 has been classified as Red List (Low Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: adamts1 has been classified as Red List (Low Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Paul De Fazio (Victorian Clinical Genetics Services)gene: ADAMTS1 was added gene: ADAMTS1 was added to Deafness_Isolated. Sources: Literature Mode of inheritance for gene: ADAMTS1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ADAMTS1 were set to 34135477 Phenotypes for gene: ADAMTS1 were set to Nonsyndromic genetic hearing loss MONDO:0019497, ADAMTS1-related Review for gene: ADAMTS1 was set to RED gene: ADAMTS1 was marked as current diagnostic