Skeletal dysplasia
Gene: YY1
mild intrauterine growth retardation, dysmorphic facies, distal skeletal abnormalities, green - multiple reports; Review on behalf of Tracy Lester/Michael OldridgeCreated: 6 Mar 2019, 11:44 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Gabriele-de Vries syndrome 617557
Publications
This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: YY1; Initial rating suggestion: green if SDCreated: 6 Mar 2019, 11:37 a.m.
Associated with phenotype in OMIM and as a probable G2P for intellectual disability. At least 5 variants reported in unrelated cases.Created: 22 Aug 2017, 9:16 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Gabriele-de Vries syndrome 617557
Publications
Added phenotypes Gabriele-de Vries syndrome 617557 for gene: YY1
Source NHS GMS was added to YY1. Rating Changed from Green List (high evidence) to Green List (high evidence)
This gene has been classified as Green List (High Evidence).
YY1 was added to Unexplained skeletal dysplasiapanel. Sources: Literature
YY1 was created by sleigh