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| Fetal anomalies v2.10 | CYP11B1 | Arina Puzriakova Tag Q3_22_MOI was removed from gene: CYP11B1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v2.10 | CYP11B1 | Arina Puzriakova commented on gene: CYP11B1: The mode of inheritance of this gene has been updated to 'BIALLELIC, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v2.9 | CYP11B1 |
Arina Puzriakova 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 |
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| Fetal anomalies v1.868 | CYP11B1 | Arina Puzriakova Added comment: 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.868 | CYP11B1 | Arina Puzriakova Mode of inheritance for gene: CYP11B1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.867 | CYP11B1 | Arina Puzriakova 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.866 | CYP11B1 | Arina Puzriakova Tag Q3_22_MOI tag was added to gene: CYP11B1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.134 | CYP11B1 | Rebecca Foulger edited their review of gene: CYP11B1: Added comment: 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.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | CYP11B1 | Rebecca Foulger reviewed gene: CYP11B1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1 | CYP11B1 | Rebecca Foulger Added phenotypes Aldosteronism, glucocorticoid-remediable 103900 for gene: CYP11B1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1 | CYP11B1 |
Rebecca Foulger 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 |
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