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  3. AMHR2
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Differences in sex development

Gene: AMHR2

Green List (high evidence)
AMHR2 (anti-Mullerian hormone receptor type 2)
EnsemblGeneIds (GRCh38): ENSG00000135409
EnsemblGeneIds (GRCh37): ENSG00000135409
OMIM: 600956, Gene2Phenotype
AMHR2 is in 1 panel

2 reviews

Ivone Leong (Genomics England Curator)

Green List (high evidence)

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.
Created: 17 Jan 2019, 2:14 p.m.

Panel version: 1.32

Martina Owens (Exeter Genetics Laboratory, Royal Devon and Exeter NHS Foundation Trust)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Persistent Mullerian duct syndrome, type II, 261550

Publications

Created: 16 Jan 2019, 11:11 a.m.

Panel version: 1.28

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Persistent Mullerian duct syndrome, type II, 261550
OMIM
600956
Clinvar variants
Variants in AMHR2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

17 Jan 2019, Gel status: 3

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: amhr2 has been classified as Green List (High Evidence).

16 Jan 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ivone Leong (Genomics England Curator)

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