1. Panels
  2. Hydrocephalus
  3. HDAC6
STRs in panel
Prev Next
Regions in panel
Prev Next

Hydrocephalus

Gene: HDAC6

Amber List (moderate evidence)
HDAC6 (histone deacetylase 6)
EnsemblGeneIds (GRCh38): ENSG00000094631
EnsemblGeneIds (GRCh37): ENSG00000094631
OMIM: 300272, Gene2Phenotype
HDAC6 is in 5 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
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

Created: 9 May 2017, 1:22 p.m.

Panel version: 0.58

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, OMIM:300863
Tags
watchlist
OMIM
300272
Clinvar variants
Variants in HDAC6
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

29 Mar 2021, Gel status: 2

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: HDAC6 were changed from ?Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia to ?Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia, OMIM:300863

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