1. Panels
  2. Differences of Sex Development
  3. CYP11B1
STRs in panel
Prev Next
Regions in panel
Prev Next

Differences of Sex Development

Gene: CYP11B1

Green List (high evidence)
CYP11B1 (cytochrome P450 family 11 subfamily B member 1)
EnsemblGeneIds (GRCh38): ENSG00000160882
EnsemblGeneIds (GRCh37): ENSG00000160882
OMIM: 610613, Gene2Phenotype
CYP11B1 is in 7 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

CAH due to 11-beta-hydroxylase deficiency is an autosomal recessive disorder of corticosteroid biosynthesis resulting in androgen excess, virilization, and hypertension. Well established gene-disease association.
Created: 28 Nov 2021, 6:24 a.m. | Last Modified: 28 Nov 2021, 6:24 a.m.
Panel Version: 0.226

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency, MIM# 202010

Publications

Created: 28 Nov 2021, 6:24 a.m.
Last Modified: 28 Nov 2021, 6:24 a.m.
Panel version: 0.226

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency, MIM# 202010
Tags
treatable
OMIM
610613
Clinvar variants
Variants in CYP11B1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

10 Oct 2022, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag treatable tag was added to gene: CYP11B1.

28 Nov 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cyp11b1 has been classified as Green List (High Evidence).

28 Nov 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: CYP11B1 were changed from to Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency, MIM# 202010

28 Nov 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: CYP11B1 were set to

28 Nov 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: CYP11B1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CYP11B1 was added gene: CYP11B1 was added to Disorders of Sex Differentiation_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: CYP11B1 was set to Unknown