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  2. GMS Musculoskeletal specialist test group Skeletal dysplasia
  3. HDAC4
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GMS Musculoskeletal specialist test group Skeletal dysplasia

Gene: HDAC4

Amber List (moderate evidence)
HDAC4 (histone deacetylase 4)
EnsemblGeneIds (GRCh38): ENSG00000068024
EnsemblGeneIds (GRCh37): ENSG00000068024
OMIM: 605314, Gene2Phenotype
HDAC4 is in 7 panels

1 review

Tracy Lester (Genetics laboratory, Oxford UK)

I don't know

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 Wilkie
Created: 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

Created: 6 Mar 2019, 11:52 a.m.

Panel version: 0.2

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Albright hereditary osteodystrophy type 3
  • Brachydactyly-intellectual disability
  • Albright hereditary osteodystrophy-like syndrome
  • Del(2)(q37) 600430
OMIM
605314
Clinvar variants
Variants in HDAC4
Penetrance
None
Panels with this gene

History Filter Activity

6 Mar 2019, Gel status: 2

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Eleanor Williams (Genomics England Curator)

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