Disorders of sex development

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 4 panels

4 reviews

Ivone Leong (Genomics England Curator)

Green List (high evidence)

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.

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM, not in G2P / DD. At least nine variants reported
Created: 8 Sep 2016, 2:22 p.m.

John Achermann (UCL Institute of Child Health)

Green List (high evidence)

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

Ellen McDonagh (Genomics England Curator)

Phenotypes from UKGTN and OMIM.
Created: 11 Jan 2016, 10:52 a.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
Phenotypes
  • Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete, OMIM:613743
OMIM
118485
Clinvar variants
Variants in CYP11A1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

27 Oct 2021, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

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

21 Dec 2016, Gel status: 4

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Promoted to V1 21/12/2016

8 Sep 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

8 Sep 2016, Gel status: 3

Set publications

Sarah Leigh (Genomics England Curator)

Publications for CYP11A1 were set to 19116240; 18182448

8 Sep 2016, Gel status: 3

Set Mode of Inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for CYP11A1 was changed to BIALLELIC, autosomal or pseudoautosomal

20 May 2016, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

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

20 May 2016, Gel status: 3

Upload gene information

Sarah Leigh (Genomics England Curator)

CYP11A1 was added to Disorders of sex developmentpanel. Sources: UKGTN,Other,Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services

20 May 2016, Gel status: 3

clearsources

Sarah Leigh (Genomics England Curator)

CYP11A1All sources for gene: CYP11A1 were removed

20 May 2016, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

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;

20 May 2016, Gel status: 3

Upload gene information

Sarah Leigh (Genomics England Curator)

CYP11A1 was added to Disorders of sex developmentpanel. Sources: Illumina TruGenome Clinical Sequencing Services,Other,Radboud University Medical Center, Nijmegen,UKGTN

20 May 2016, Gel status: 3

Set Mode of Inheritance

Sarah Leigh (Genomics England Curator)

Model of inheritance for gene CYP11A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

20 May 2016, Gel status: 3

Set Mode of Inheritance

Sarah Leigh (Genomics England Curator)

Model of inheritance for gene CYP11A1 was set to Unknown

20 May 2016, Gel status: 3

Set Mode of Inheritance

Sarah Leigh (Genomics England Curator)

Model of inheritance for gene CYP11A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

20 May 2016, Gel status: 3

Set Mode of Inheritance

Sarah Leigh (Genomics England Curator)

Model of inheritance for gene CYP11A1 was set to Unknown

20 May 2016, Gel status: 3

Set Mode of Inheritance

Sarah Leigh (Genomics England Curator)

Model of inheritance for gene CYP11A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

20 May 2016, Gel status: 3

Set Mode of Inheritance, Added New Source

Sarah Leigh (Genomics England Curator)

CYP11A1 was added to Disorders of sex developmentpanel. Source: UKGTN Model of inheritance for gene CYP11A1 was set to Unknown

20 May 2016, Gel status: 2

Set Mode of Inheritance, Added New Source

Sarah Leigh (Genomics England Curator)

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

20 May 2016, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

CYP11A1 was added to Disorders of sex developmentpanel. Source: Radboud University Medical Center, Nijmegen

11 Jan 2016, Gel status: 1

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

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

11 Jan 2016, Gel status: 1

Upload gene information

Ellen McDonagh (Genomics England Curator)

CYP11A1 was added to Disorders of sex developmentpanel. Sources: Other

11 Jan 2016, Gel status: 1

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

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

11 Jan 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

CYP11A1 was created by ellenmcdonagh

11 Jan 2016, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

CYP11A1 was added to Disorders of sex developmentpanel. Sources: UKGTN