PanelApp
  1. Genes and Genomic Entities
  2. CYP21A2

CYP21A2

cytochrome P450 family 21 subfamily A member 2
OMIM: 613815, Gene2Phenotype

8 panels

Panel Reviews Mode of inheritance Details
8 panels

Green CYP21A2 in Differences of Sex Development


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.24

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency, 201910
  • Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency, 201910

Green CYP21A2 in Mendeliome


Version 1.3499

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency, 201910
  • Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency, 201910
Tags
  • SV/CNV

Green CYP21A2 in Hypertension and Aldosterone disorders


Level 2: Renal and urinary tract disorders; Endocrine disorders
Version 1.16

Component of the following Super Panels:

  • Kidneyome_SuperPanel

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency, 201910
    • Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency, 201910

    Green CYP21A2 in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    		0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • BabySeq Category A gene
    • Expert Review Green
    Phenotypes
    • Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency

    Green CYP21A2 in Fetal anomalies


    Version 1.465

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    Phenotypes
    • Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency, MIM# 201910
    Tags
    • SV/CNV

    Red CYP21A2 in Prepair 1000+


    Level 2: Screening
    Version 2.14

    		2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Literature
    Phenotypes
    • Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency (MIM#201910)

    Green CYP21A2 in Genomic newborn screening: BabyScreen+


    Level 2: Screening
    Version 1.140

    		2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • BabySeq Category A gene
    • BeginNGS
    Phenotypes
    • Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency, MIM#201910
    Tags
    • treatable
    • endocrine
    • technically challenging

    Green CYP21A2 in Renal Tubulopathies and related disorders


    Level 2: Renal and urinary tract disorders
    Version 1.22

    Component of the following Super Panels:

  • Kidneyome_SuperPanel

    		•  3 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    • Expert list
    • Expert Review Green
    • KidGen_MetabolicRenal v38.1.0
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency, 201910
    • Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency, 201910