Disorders of sex development
Gene: CYP11A1The mode of inheritance of this gene has been updated to 'BOTH monoallelic and biallelic, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.Created: 31 Jan 2023, 4:46 p.m. | Last Modified: 31 Jan 2023, 4:46 p.m.
Panel Version: 3.2
Comment on mode of inheritance: Homozygous, compound heterozygous, and heterozygous (although most rare) variants in the CYP11A1 gene have all been associated with disease. Therefore, MOI should be updated to 'Both mono- and biallelic' at the next GMS panel update.Created: 7 Jun 2022, 11:01 a.m. | Last Modified: 7 Jun 2022, 11:01 a.m.
Panel Version: 2.60
As discussed in the GMS Endocrinology Specialist Test Group webex call 28th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.Created: 29 Apr 2019, 9:46 a.m.
Comment when marking as ready: Associated with phenotype in OMIM, not in G2P / DD. At least nine variants reportedCreated: 8 Sep 2016, 2:22 p.m.
Severe loss associated with underandrogenization (46,XY) and primary salt losing adrenal insufficiency. Milder variants may cause hypospadias or normal genitalia with milder adrenal insufficiency.Created: 4 Feb 2016, 12:14 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
DSD; primary adrnal insufficiency
Phenotypes from UKGTN and OMIM.Created: 11 Jan 2016, 10:52 a.m.
Tag Q3_22_MOI was removed from gene: CYP11A1.
Source NHS GMS was added to CYP11A1. Mode of inheritance for gene CYP11A1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Tag Q3_22_MOI tag was added to gene: CYP11A1.
Publications for gene: CYP11A1 were set to 19116240; 18182448
Mode of inheritance for gene: CYP11A1 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CYP11A1 were changed from Genital Anomalies and Suspected Adrenal Problems Gene Panel (UKGTN); Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete, 613743 to Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete, OMIM:613743
Promoted to V1 21/12/2016
This gene has been classified as Green List (High Evidence).
Publications for CYP11A1 were set to 19116240; 18182448
Mode of inheritance for CYP11A1 was changed to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene CYP11A1 were set to Genital Anomalies and Suspected Adrenal Problems Gene Panel (UKGTN); Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete, 613743
CYP11A1 was added to Disorders of sex developmentpanel. Sources: UKGTN,Other,Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services
CYP11A1All sources for gene: CYP11A1 were removed
Phenotypes for gene CYP11A1 were set to Genital Anomalies and Suspected Adrenal Problems Gene Panel (UKGTN); Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete, 613743;
CYP11A1 was added to Disorders of sex developmentpanel. Sources: Illumina TruGenome Clinical Sequencing Services,Other,Radboud University Medical Center, Nijmegen,UKGTN
Model of inheritance for gene CYP11A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Model of inheritance for gene CYP11A1 was set to Unknown
Model of inheritance for gene CYP11A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Model of inheritance for gene CYP11A1 was set to Unknown
Model of inheritance for gene CYP11A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
CYP11A1 was added to Disorders of sex developmentpanel. Source: UKGTN Model of inheritance for gene CYP11A1 was set to Unknown
CYP11A1 was added to Disorders of sex developmentpanel. Source: Illumina TruGenome Clinical Sequencing Services Model of inheritance for gene CYP11A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
CYP11A1 was added to Disorders of sex developmentpanel. Source: Radboud University Medical Center, Nijmegen
Phenotypes for gene CYP11A1 were set to Genital Anomalies and Suspected Adrenal Problems 12 Gene Panel (UKGTN); Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete
CYP11A1 was added to Disorders of sex developmentpanel. Sources: Other
Phenotypes for gene CYP11A1 were set to Genital Anomalies and Suspected Adrenal Problems 12 Gene Panel (UKGTN); Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete
CYP11A1 was created by ellenmcdonagh
CYP11A1 was added to Disorders of sex developmentpanel. Sources: UKGTN