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Mendeliome

Gene: PATL2

Green List (high evidence)

PATL2 (PAT1 homolog 2)
EnsemblGeneIds (GRCh38): ENSG00000229474
EnsemblGeneIds (GRCh37): ENSG00000229474
OMIM: 614661, Gene2Phenotype
PATL2 is in 2 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

More than 5 unrelated families reported, presentation is with infertility.
Sources: Expert list
Created: 11 Dec 2020, 5:31 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Oocyte maturation defect 4, MIM# 617743

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Oocyte maturation defect 4, MIM# 617743
OMIM
614661
Clinvar variants
Variants in PATL2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

11 Dec 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: patl2 has been classified as Green List (High Evidence).

11 Dec 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: patl2 has been classified as Green List (High Evidence).

11 Dec 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PATL2 was added gene: PATL2 was added to Mendeliome. Sources: Expert list Mode of inheritance for gene: PATL2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PATL2 were set to 28965844; 28965849; 32048119; 30765866 Phenotypes for gene: PATL2 were set to Oocyte maturation defect 4, MIM# 617743 Review for gene: PATL2 was set to GREEN