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Retinal disorders

Gene: CA4

Amber List (moderate evidence)

CA4 (carbonic anhydrase 4)
EnsemblGeneIds (GRCh38): ENSG00000167434
EnsemblGeneIds (GRCh37): ENSG00000167434
OMIM: 114760, Gene2Phenotype
CA4 is in 3 panels

3 reviews

Ivone Leong (Genomics England Curator)

I don't know

This gene has been demoted from green to amber because there are only 2 published cases (PMID: 15563508; 17652713;15090652).
Created: 30 Aug 2019, 2:52 p.m. | Last Modified: 30 Aug 2019, 2:52 p.m.
Panel Version: 1.160

Gavin Arno (UCL Institute of Ophthalmology/Moorfields Eye Hospital)

Red List (low evidence)

p.ARG14TRP is too common to a dominant RP mutation. P.ARG219SER is rare but we have ruled this out in ou UK family. Arg69His is in 1 in 3000 SA individuals in gnomAD making it too common. Therefore there is no evidence for CA in IRD.
Created: 30 Aug 2019, 2:12 p.m. | Last Modified: 30 Aug 2019, 2:12 p.m.
Panel Version: 1.159

Ellen McDonagh (Genomics England Curator)

This gene is on the Manchester Genetic Retinal Degeneration Conditions panel (covers known genes for isolated progessive retinal degeneration, Leber congenital amaurosis, macular dystrophy, achromatopsia, congenital stationary night blindness as well as the two most common causes of syndromic blindess Usher and Bardet-Biedl syndromes and additional syndromes including Joubert, Senior-Loken, and Cohen syndrome.
Created: 2 Jun 2016, 8:04 a.m.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Eye Disorders
  • Retinitis Pigmentosa, Dominant
  • Retinitis pigmentosa
  • Retinitis pigmentosa 17, 600852
OMIM
114760
Clinvar variants
Variants in CA4
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

30 Aug 2019, Gel status: 2

Added New Source, Status Update

Ivone Leong (Genomics England Curator)

Source Expert Review Amber was added to CA4. Rating Changed from Green List (high evidence) to Amber List (moderate evidence)

3 Apr 2019, Gel status: 3

Added New Source, Status Update

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to CA4. Rating Changed from Green List (high evidence) to Green List (high evidence)

1 Apr 2019, Gel status: 3

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: CA4 were set to

21 Mar 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

9 Mar 2016, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene CA4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

9 Mar 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

CA4 was created by ellenmcdonagh

9 Mar 2016, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

CA4 was added to Posterior segment abnormalitiespanel. Sources: Expert Review Green