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Ichthyosis

Gene: CSTA

Green List (high evidence)
CSTA (cystatin A)
EnsemblGeneIds (GRCh38): ENSG00000121552
EnsemblGeneIds (GRCh37): ENSG00000121552
OMIM: 184600, Gene2Phenotype
CSTA is in 7 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Exfoliative ichthyosis is a prominent feature of the condition. >3 unrelated families reported.
Sources: Expert list
Created: 31 Jan 2020, 12:47 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Peeling skin syndrome 4 MIM#607936; exfoliative ichthyosis

Publications

Created: 31 Jan 2020, 12:47 a.m.

Panel version: 0.11

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Peeling skin syndrome 4 MIM#607936
  • exfoliative ichthyosis
OMIM
184600
Clinvar variants
Variants in CSTA
Penetrance
None
Publications
Panels with this gene

History Filter Activity

31 Jan 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: csta has been classified as Green List (High Evidence).

31 Jan 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: csta has been classified as Green List (High Evidence).

31 Jan 2020, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: CSTA was added gene: CSTA was added to Ichthyosis. Sources: Expert list Mode of inheritance for gene: CSTA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CSTA were set to 21944047; 23534700; 25400170 Phenotypes for gene: CSTA were set to Peeling skin syndrome 4 MIM#607936; exfoliative ichthyosis Review for gene: CSTA was set to GREEN