Congenital adrenal hypoplasia
Gene: CYP11A1After NHS Genomic Medicine Service consideration, the mode of inheritance of this gene has not been changed and remains 'MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted'.Created: 31 Jan 2023, 4:34 p.m. | Last Modified: 31 Jan 2023, 4:34 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: 2.10
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.
Comment on list classification: Expert review, 2 sources and good evidence from OMIMCreated: 7 Jun 2016, 8:33 a.m.
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
Tag Q3_22_MOI was removed from gene: CYP11A1.
Tag Q3_22_MOI tag was added to gene: CYP11A1.
Publications for gene: CYP11A1 were set to
Mode of inheritance for gene: CYP11A1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CYP11A1 were changed from Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete, 613743; Congenital Adrenal Insufficiency to Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete, OMIM:613743
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.
This gene has been classified as Green List (High Evidence).
Mode of inheritance for CYP11A1 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
This gene has been classified as Green List (High Evidence).
Model of inheritance for gene CYP11A1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
CYP11A1 was added to Congenital adrenal hypoplasiapanel. Sources: Illumina TruGenome Clinical Sequencing Services
CYP11A1 was added to Congenital adrenal hypoplasiapanel. Sources: Radboud University Medical Center, Nijmegen