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Newborns main panel

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

1 review

Arina Puzriakova (Genomics England Curator)

Special Consideration: Awareness.

Additional Information: Only male patients should be reported as they are likely to require early surgical management.
Created: 11 Feb 2026, 3:08 p.m. | Last Modified: 11 Feb 2026, 3:09 p.m.
Panel Version: 0.503
The mechanism of pathogenicity is loss-of-function (LOF)
Created: 31 Dec 2025, 2:36 p.m. | Last Modified: 31 Dec 2025, 2:36 p.m.
Panel Version: 0.499
PMID: 8872466 - 16 families. PMID: 34810374 - 94 cases
Created: 31 Dec 2025, 2:27 p.m. | Last Modified: 31 Dec 2025, 2:27 p.m.
Panel Version: 0.498
Created: 31 Dec 2025, 2:27 p.m.
Last Modified: 11 Feb 2026, 3:09 p.m.
Panel version: 0.503

Details

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

History Filter Activity

11 Feb 2026, Gel status: 3

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag special_consideration tag was added to gene: AMHR2.

31 Dec 2025, Gel status: 3

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

Arina Puzriakova (Genomics England Curator)

gene: AMHR2 was added gene: AMHR2 was added to Newborns main panel. Sources: Expert Review Green Mode of inheritance for gene: AMHR2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: AMHR2 were set to Persistent Mullerian duct syndrome, type II