Disorders of sex developmentGene: AMHR2
As discussed in the GMS Endocrinology Specialist Test Group webex call 28th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Created: 29 Apr 2019, 9:46 a.m.
Comment on list classification: Promoted from red to green as recommended by Martina Owens (Exeter Genetics Laboratory, Royal Devon and Exeter NHS Foundation Trust). There are >3 unrelated cases of patients with variants in AMHR2 who have Persistent Mullerian duct syndrome, type II (PMID: 28528332).
Created: 17 Jan 2019, 2:14 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Persistent Mullerian duct syndrome, type II, 261550
Gene: amhr2 has been classified as Green List (High Evidence).
gene: AMHR2 was added gene: AMHR2 was added to Disorders of sex development. Sources: NHS GMS Mode of inheritance for gene: AMHR2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AMHR2 were set to 28528332 Phenotypes for gene: AMHR2 were set to Persistent Mullerian duct syndrome, type II, 261550