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  3. HDAC6
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Structural eye disease

Gene: HDAC6

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

2 reviews

Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust)

Red List (low evidence)

Simon: one family with UTR variant in syndromic microphthalmia
Created: 19 Jun 2019, 3:32 p.m.

Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Phenotypes
CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA; 300863

Publications

Mode of pathogenicity
other - please provide details in the comments

Created: 19 Jun 2019, 3:32 p.m.

Panel version: 0.76

Ivone Leong (Genomics England Curator)

Red List (low evidence)

Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). Simon: one family with UTR variant in syndromic microphthalmia
Created: 17 Apr 2019, 3:30 p.m.

Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Phenotypes
CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA, 300863

Publications

Mode of pathogenicity
Other - please provide details in the comments

Created: 17 Apr 2019, 3:30 p.m.

Panel version: 0.38

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • NHS GMS
  • Expert Review Red
Phenotypes
  • Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, andmicrophthalmia, 300863
OMIM
300272
Clinvar variants
Variants in HDAC6
Penetrance
None
Publications
Mode of Pathogenicity
other - please provide details in the comments
Panels with this gene

History Filter Activity

17 Apr 2019, Gel status: 1

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: HDAC6 were changed from Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, andmicrophthalmia, 300863; CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA, 300863 to Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, andmicrophthalmia, 300863

17 Apr 2019, Gel status: 1

Added New Source, Set mode of inheritance, Set mode of pathogenicity, Set Phenotypes, Set publications

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to HDAC6. Mode of inheritance for gene HDAC6 was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Mode of pathogenicity for gene HDAC6 was changed from to other - please provide details in the comments Added phenotypes CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA, 300863 for gene: HDAC6 Publications for gene HDAC6 were changed from to 20181727

3 Jan 2019, Gel status: 1

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

Ellen McDonagh (Genomics England Curator)

gene: HDAC6 was added gene: HDAC6 was added to Structural eye disease. Sources: Expert Review Red Mode of inheritance for gene: HDAC6 was set to Phenotypes for gene: HDAC6 were set to Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, andmicrophthalmia, 300863