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Differences of Sex Development v0.283 NR2F2 Zornitza Stark Phenotypes for gene: NR2F2 were changed from 46,XX disorder of sex development (DSD) and congenital heart defects to 46XX sex reversal 5, MIM# 618901
Differences of Sex Development v0.282 NR2F2 Zornitza Stark edited their review of gene: NR2F2: Changed phenotypes: 46XX sex reversal 5, MIM# 618901
Differences of Sex Development v0.30 NR2F2 Zornitza Stark Marked gene: NR2F2 as ready
Differences of Sex Development v0.30 NR2F2 Zornitza Stark Gene: nr2f2 has been classified as Green List (High Evidence).
Differences of Sex Development v0.30 NR2F2 Zornitza Stark Classified gene: NR2F2 as Green List (high evidence)
Differences of Sex Development v0.30 NR2F2 Zornitza Stark Gene: nr2f2 has been classified as Green List (High Evidence).
Differences of Sex Development v0.29 NR2F2 Zornitza Stark gene: NR2F2 was added
gene: NR2F2 was added to Disorders of Sex Differentiation. 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
Added comment: 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