Disorders of sex developmentGene: NR2F2
Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. There is enough evidence to support a gene-disease association. Therefore this gene should be Green at the next review.
Created: 1 Mar 2021, 12:16 p.m. | Last Modified: 1 Mar 2021, 12:16 p.m.
Panel Version: 2.18
Four unrelated individuals reported. Note two had the same 7bp deletion, c.97_103delCCGCCCG, NM_021005.3, and the third individual had an adjacent deletion, c.103_109delGGCGCCC, NM_021005.3. All three were of very different ancestries, making founder effect unlikely. Fourth individual had a larger deletion encompassing this gene. Gene is also linked with isolated CHD (Congenital heart defects, multiple types, 4, MIM# 615779)
Sources: Expert list
Created: 4 Jun 2020, 9 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
46,XX disorder of sex development (DSD) and congenital heart defects
Variants in this GENE are reported as part of current diagnostic practice
Tag Q2_21_rating tag was added to gene: NR2F2.
Gene: nr2f2 has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: NR2F2 were changed from 46,XX disorder of sex development (DSD) and congenital heart defects to 46,XX sex reversal 5, OMIM:618901; 46,XX sex reversal 5, MONDO:0030049
gene: NR2F2 was added gene: NR2F2 was added to Disorders of sex development. Sources: Expert list Mode of inheritance for gene: NR2F2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: NR2F2 were set to 29478779; 31687637 Phenotypes for gene: NR2F2 were set to 46,XX disorder of sex development (DSD) and congenital heart defects Review for gene: NR2F2 was set to GREEN