Congenital adrenal hypoplasia

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

3 reviews

Ivone Leong (Genomics England Curator)

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: 5 Feb 2019, 1:47 p.m.

Damian Smedley (Genomics England Curator)

Comment on list classification: Expert review, 2 sources and good evidence from OMIM
Created: 7 Jun 2016, 8:33 a.m.

John Achermann (UCL Institute of Child Health)

Green List (high evidence)

Severe forms cause primary adrenal insufficiency in 46,XX girls and primary adrenal insufficiency with impaired sex development in individuals with a 46,XY karyotype and female appearance. Milder changes can cause hypospadias or later onset adrenal insufficiency without genital phenotype in 46,XY individuals, but these boys may be at risk of disrupted puberty or fertility.
Created: 7 Dec 2015, 1:31 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete, 613743
  • Congenital Adrenal Insufficiency
OMIM
118485
Clinvar variants
Variants in CYP11A1
Penetrance
Complete
Panels with this gene

History Filter Activity

6 Feb 2017, Gel status: 4

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

06/02/2016: Panel revised according to expert review, further curation and discussion with Clinical Geneticists at Genomics England. Ready to promote to version 1.

7 Jun 2016, Gel status: 4

Gene classified by Genomics England curator

Damian Smedley (Genomics England Curator)

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

7 Jun 2016, Gel status: 4

Set Mode of Inheritance

Damian Smedley (Genomics England Curator)

Mode of inheritance for CYP11A1 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

7 Jun 2016, Gel status: 4

Gene classified by Genomics England curator

Damian Smedley (Genomics England Curator)

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

3 Aug 2015, Gel status: 2

Set Mode of Inheritance

Eik Haraldsdottir (Genomics England)

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

3 Aug 2015, Gel status: 2

Added New Source

Eik Haraldsdottir (Genomics England)

CYP11A1 was added to Congenital adrenal hypoplasiapanel. Sources: Illumina TruGenome Clinical Sequencing Services

3 Aug 2015, Gel status: 1

Added New Source

Eik Haraldsdottir (Genomics England)

CYP11A1 was added to Congenital adrenal hypoplasiapanel. Sources: Radboud University Medical Center, Nijmegen