Primary ovarian insufficiency

Gene: KHDRBS1

Comment on list classification: This gene is not associated with a phenotype in OMIM or Gene2Phenotype.

PMID:28938739 describes 2 cases. There was no details given for the idiopathic POI case.

ClinVar ID: 929733: as there is no further information available about this case I am hesitant in including this as part of the case count.

PMID:29808484. As stated by Zornitza Stark (Australian Genomics), the variant detected in this paper is also not included in the case count.

As there is only 1 case and 1 animal model there is currently not enough evidence to support a gene-disease association. This gene has been given an Amber rating until more evidence is available.

Created: 5 Jan 2022, 11:03 a.m. | Last Modified: 5 Jan 2022, 11:03 a.m.

Panel Version: 1.63

Green List (high evidence)

4 individuals in 3 unrelated families and a supporting mouse model
PMID: 28938739 - missense (c.460A > G, p.M154V) identified in a Chinese mother and daughter with POI, and another missense (c.263C > T, p.P88L) identified in an idiopathic POI case.
SCV001364312.1 - case with POI and missense (p.Pro421Leu) submitted by an Italian institute (ClinVar ID: 929733)
PMID: 29808484 - missense (p.Pro296Leu) identified in a POI case, which also has a heterozygous missense in FGFR2. There are 12 hets with Pro296Leu in gnomAD v2.1. This case is not included in the final case count.
PMID: 20881015 - supporting null mouse model. Female mice were subfertile.
Sources: Literature

Created: 4 Dec 2021, 1:01 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Premature ovarian failure

Publications

• 34794894
• 29808484
• 28938739
• 20881015

Variants in this GENE are reported as part of current diagnostic practice