1. Panels
  2. Primary Ovarian Insufficiency_Premature Ovarian Failure
  3. DAZL
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Primary Ovarian Insufficiency_Premature Ovarian Failure

Gene: DAZL

Amber List (moderate evidence)
DAZL (deleted in azoospermia like)
EnsemblGeneIds (GRCh38): ENSG00000092345
EnsemblGeneIds (GRCh37): ENSG00000092345
OMIM: 601486, Gene2Phenotype
DAZL is in 2 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

I don't know

PMID: 33095795 - Single POI case with heterozygous stopgain (c.640C>T:p.Q214*).
PMID: 16884537 - 4 heterozygous unrelated early menopause/POI cases with heterozygous missense (all rare in gnomAD v2.1, except p.Asn10His which has 14 hets)
PMID: 9288969 - supporting knockout mouse model
Sources: Literature
Created: 28 Nov 2021, 11:38 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Primary ovarian insufficiency

Publications

Created: 28 Nov 2021, 11:38 p.m.

Panel version: 0.219

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Primary ovarian failure, MONDO:0005387, DAZL-related
OMIM
601486
Clinvar variants
Variants in DAZL
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Sep 2023, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: DAZL were changed from Primary ovarian insufficiency to Primary ovarian failure, MONDO:0005387, DAZL-related

28 Nov 2021, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: dazl has been classified as Amber List (Moderate Evidence).

28 Nov 2021, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: dazl has been classified as Amber List (Moderate Evidence).

28 Nov 2021, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: DAZL was added gene: DAZL was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Literature Mode of inheritance for gene: DAZL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: DAZL were set to 34794894; 33095795; 16884537; 9288969 Phenotypes for gene: DAZL were set to Primary ovarian insufficiency Review for gene: DAZL was set to AMBER