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Mendeliome

Gene: CYP11A1

Green List (high evidence)

CYP11A1 (cytochrome P450 family 11 subfamily A member 1)
EnsemblGeneIds (GRCh38): ENSG00000140459
EnsemblGeneIds (GRCh37): ENSG00000140459
OMIM: 118485, Gene2Phenotype
CYP11A1 is in 9 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

The phenotypic spectrum ranges from prematurity, complete underandrogenization, and severe early-onset adrenal failure to term birth with clitoromegaly and later-onset adrenal failure.

Well established gene-disease association.
Created: 28 Nov 2021, 6:11 a.m. | Last Modified: 28 Nov 2021, 6:11 a.m.
Panel Version: 0.9906

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete, MIM# 613743

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete, MIM# 613743
OMIM
118485
Clinvar variants
Variants in CYP11A1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

28 Nov 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cyp11a1 has been classified as Green List (High Evidence).

28 Nov 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: CYP11A1 were changed from to Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete, MIM# 613743

28 Nov 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: CYP11A1 were set to

28 Nov 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: CYP11A1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CYP11A1 was added gene: CYP11A1 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: CYP11A1 was set to Unknown