Callosome
Gene: CYP11A1EnsemblGeneIds (GRCh38): ENSG00000140459
EnsemblGeneIds (GRCh37): ENSG00000140459
OMIM: 118485, Gene2Phenotype
CYP11A1 is in 9 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Corpus callosum abnormalities are not a feature of this condition.Created: 28 Nov 2021, 6:13 a.m. | Last Modified: 28 Nov 2021, 6:13 a.m.
Panel Version: 0.338
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 Red
- 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
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: cyp11a1 has been classified as Red List (Low Evidence).
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
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: CYP11A1 were set to
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
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: cyp11a1 has been classified as Red List (Low Evidence).
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 Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: CYP11A1 was set to Unknown