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  2. Primary Ovarian Insufficiency_Premature Ovarian Failure
  3. KHDRBS1
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Primary Ovarian Insufficiency_Premature Ovarian Failure

Gene: KHDRBS1

Green List (high evidence)
KHDRBS1 (KH RNA binding domain containing, signal transduction associated 1)
EnsemblGeneIds (GRCh38): ENSG00000121774
EnsemblGeneIds (GRCh37): ENSG00000121774
OMIM: 602489, Gene2Phenotype
KHDRBS1 is in 2 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

4 cases 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: 25 Nov 2021, 11:42 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Premature ovarian failure

Publications

Created: 25 Nov 2021, 11:42 p.m.

Panel version: 0.200

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Premature ovarian failure
OMIM
602489
Clinvar variants
Variants in KHDRBS1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

25 Nov 2021, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: khdrbs1 has been classified as Green List (High Evidence).

25 Nov 2021, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: khdrbs1 has been classified as Green List (High Evidence).

25 Nov 2021, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: KHDRBS1 was added gene: KHDRBS1 was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Literature Mode of inheritance for gene: KHDRBS1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KHDRBS1 were set to 34794894; 29808484; 28938739; 20881015 Phenotypes for gene: KHDRBS1 were set to Premature ovarian failure Review for gene: KHDRBS1 was set to GREEN