Pigmentary skin disorders
Gene: ADAM10EnsemblGeneIds (GRCh38): ENSG00000137845
EnsemblGeneIds (GRCh37): ENSG00000137845
OMIM: 602192, Gene2Phenotype
ADAM10 is in 1 panel
2 reviews
Tom Cullup (Great Ormond Street Hospital)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Reticulate acropigmentation of Kitamura
Publications
Rebecca Foulger (Genomics England curator)
This gene was part of an initial gene list collated by Thomas Cullup, GOSH and Veronica Kinsler, UCL, 25.Jan.2019 on behalf of the GMS Skin Specialist Test Group. Gene Symbol submitted: ADAM10; Suggested initial gene rating: Green; Evidence for inclusion: none provided; Evidence for exclusion: none provided; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none provided.Created: 31 Jan 2019, 11:31 a.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- London North GLH
- NHS GMS
- Expert Review Green
- Phenotypes
-
- Reticulate acropigmentation of Kitamura
- OMIM
- 602192
- Clinvar variants
- Variants in ADAM10
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Set Phenotypes, Set publications
Catherine Snow (Genomics England)Added phenotypes Reticulate acropigmentation of Kitamura for gene: ADAM10 Publications for gene ADAM10 were changed from to 23666529
Added New Source
Rebecca Foulger (Genomics England curator)Source London North GLH was added to ADAM10.
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Rebecca Foulger (Genomics England curator)gene: ADAM10 was added gene: ADAM10 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: ADAM10 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: ADAM10 were set to Reticulate acropigmentation of Kitamura