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  3. CTNNA1
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Macular Dystrophy/Stargardt Disease

Gene: CTNNA1

Green List (high evidence)
CTNNA1 (catenin alpha 1)
EnsemblGeneIds (GRCh38): ENSG00000044115
EnsemblGeneIds (GRCh37): ENSG00000044115
OMIM: 116805, Gene2Phenotype
CTNNA1 is in 4 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Three families reported.
Created: 10 Oct 2020, 7:09 a.m. | Last Modified: 10 Oct 2020, 7:09 a.m.
Panel Version: 0.24

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Macular dystrophy, butterfly-shaped pigmentary, 2, MIM# 608970

Publications

Created: 10 Oct 2020, 7:09 a.m.
Last Modified: 10 Oct 2020, 7:09 a.m.
Panel version: 0.24

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Royal Melbourne Hospital
  • Expert Review Green
Phenotypes
  • Macular dystrophy, butterfly-shaped pigmentary, 2, MIM#608970
OMIM
116805
Clinvar variants
Variants in CTNNA1
Penetrance
None
Panels with this gene

History Filter Activity

30 Dec 2019, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: CTNNA1 was added gene: CTNNA1 was added to Macular Dystrophy/Stargardt Disease_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: CTNNA1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: CTNNA1 were set to Macular dystrophy, butterfly-shaped pigmentary, 2, MIM#608970