GMS Musculoskeletal specialist test group Skeletal dysplasia
Gene: HDAC4
Brachydactylies (with extraskeletal manifestations) gp of SD. Brachydactyly MR syndrome is associated with a 2q37del. Only 2 cases with variants in the gene, but these have been reclassified as VUS on OMIM - haploinsufficiency associated with brachydactyly but not ID? amber/green? Note added by AW - HDAC4 yes. Listed in Bonafe (brachydactyly-MR). Seems good scientific basis to implicate HDAC4 in phenotype eg Jean-Marcais Am J Med Genet 14; Review on behalf of Tracy Lester/Andrew WilkieCreated: 6 Mar 2019, 11:52 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Albright hereditary osteodystrophy type 3; Albright hereditary osteodystrophy-like syndrome; Brachydactyly-intellectual disability; Del(2)(q37) 600430
Publications
gene: HDAC4 was added gene: HDAC4 was added to GMS Musculoskeletal specialist test group Skeletal dysplasia. Sources: NHS GMS,Expert Review Amber Mode of inheritance for gene: HDAC4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: HDAC4 were set to Albright hereditary osteodystrophy type 3; Brachydactyly-intellectual disability; Albright hereditary osteodystrophy-like syndrome; Del(2)(q37) 600430