Hydrocephalus

Gene: HDAC6

Amber List (moderate evidence)

HDAC6 (histone deacetylase 6)
EnsemblGeneIds (GRCh38): ENSG00000094631
EnsemblGeneIds (GRCh37): ENSG00000094631
OMIM: 300272, Gene2Phenotype
HDAC6 is in 4 panels

2 reviews

Louise Daugherty (Genomics England Curator)

I don't know

As discussed with the GMS Neurology Specialist Test Group webex call 11th July 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Amber
Created: 29 Jul 2019, 2:49 p.m. | Last Modified: 29 Jul 2019, 2:49 p.m.
Panel Version: 1.34

Helen Brittain (Genomics England Curator)

I don't know

Single family reported to date. Watchlist required
Created: 9 May 2017, 1:22 p.m.

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
?Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia

Publications

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • NHS GMS
  • Expert Review Amber
  • Literature
Phenotypes
  • ?Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia
Tags
watchlist
OMIM
300272
Clinvar variants
Variants in HDAC6
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

29 Jul 2019, Gel status: 2

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to HDAC6.

31 May 2017, Gel status: 2

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

31.05.2017 - panel revised after internal curation and clinical review.

9 May 2017, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

HDAC6 was added to Hydrocephaluspanel. Source: Expert Review Amber

9 May 2017, Gel status: 0

Created

Helen Brittain (Genomics England Curator)

HDAC6 was created by helen.brittain

9 May 2017, Gel status: 0

Added New Source

Helen Brittain (Genomics England Curator)

HDAC6 was added to Hydrocephaluspanel. Sources: Literature