Differences of Sex Development

Gene: RXFP2

Green List (high evidence)

One individual with bilateral cryptorchidism and infertility had homozygous c.1406delT in RXFP2 (NM_130806.5), leading to a frameshift p.(Phe469Serfs*8). From consanguinous family.

Two affected brothers with homozygous missense variant c.1015A>G in RXFP2 (NM_130806.5) resulting in an amino acid substitution p.(Asn339Asp) with bilateral cryptorchidism.

Created: 28 Mar 2024, 8:46 a.m. | Last Modified: 28 Mar 2024, 8:46 a.m.

Panel Version: 0.293

Homozygous non-canonical splicing variant by whole-exome sequencing and Sanger sequencing . NM_130806: c.1376-12A > G

Created: 28 Mar 2024, 8:41 a.m. | Last Modified: 28 Mar 2024, 8:41 a.m.

Panel Version: 0.293

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Infertility; cryptorchidism; non-obstructive azoospermia

Publications

• 37208861

Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

Red List (low evidence)

Single family with four affected individuals plus animal model data.

Created: 20 Apr 2020, 4:38 a.m. | Last Modified: 20 Apr 2020, 4:38 a.m.

Panel Version: 0.17

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cryptorchidism

Publications

• 31167797
• 20963592