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  3. CYP11B1
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Fetal anomalies

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 3 panels

2 reviews

Arina Puzriakova (Genomics England Curator)

The mode of inheritance of this gene has been updated to 'BIALLELIC, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.
Created: 30 Jan 2023, 4:26 p.m. | Last Modified: 30 Jan 2023, 4:26 p.m.
Panel Version: 2.10
Comment on mode of inheritance: Only biallelic MOI is relevant to this panel, causing Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency, OMIM:202010, characterised by androgen excess, virilization, and hypertension (can be detected prenatally by increased levels of tetrahydro-11-deoxycortisol in the amniotic fluid). On the other hand, AD disease arises in the form of familial hyperaldosteronism/hypertension in childhood to early adulthood and therefore should be excluded from the fetal panel.
Created: 7 Jun 2022, 2:27 p.m. | Last Modified: 7 Jun 2022, 2:27 p.m.
Panel Version: 1.868
Created: 7 Jun 2022, 2:27 p.m.
Last Modified: 7 Jun 2022, 2:27 p.m.
Panel version: 2.10

Rebecca Foulger (Genomics England curator)

Green List (high evidence)

This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.
Created: 24 Mar 2019, 4:30 p.m.
DDG2P rating in original PAGE list: Confirmed.
Created: 11 Dec 2018, 9:04 a.m.
Created: 11 Dec 2018, 9:04 a.m.

Panel version: 0.134

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • PAGE Additional Gene List
  • Expert Review Green
Phenotypes
  • Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency, OMIM:202010
OMIM
610613
Clinvar variants
Variants in CYP11B1
Penetrance
None
Panels with this gene

History Filter Activity

30 Jan 2023, Gel status: 3

Removed Tag

Arina Puzriakova (Genomics England Curator)

Tag Q3_22_MOI was removed from gene: CYP11B1.

30 Jan 2023, Gel status: 3

Added New Source, Set mode of inheritance

Arina Puzriakova (Genomics England Curator)

Source NHS GMS was added to CYP11B1. Mode of inheritance for gene CYP11B1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal

7 Jun 2022, Gel status: 3

Set mode of inheritance

Arina Puzriakova (Genomics England Curator)

Mode of inheritance for gene: CYP11B1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

7 Jun 2022, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: CYP11B1 were changed from Aldosteronism, glucocorticoid-remediable 103900; Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency 202010 to Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency, OMIM:202010

7 Jun 2022, Gel status: 3

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag Q3_22_MOI tag was added to gene: CYP11B1.

8 Nov 2018, Gel status: 4

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Added phenotypes Aldosteronism, glucocorticoid-remediable 103900 for gene: CYP11B1

8 Nov 2018, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Rebecca Foulger (Genomics England curator)

gene: CYP11B1 was added gene: CYP11B1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List Mode of inheritance for gene: CYP11B1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: CYP11B1 were set to Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency 202010