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Mendeliome

Gene: PNLDC1

Green List (high evidence)

PNLDC1 (PARN like, ribonuclease domain containing 1)
EnsemblGeneIds (GRCh38): ENSG00000146453
EnsemblGeneIds (GRCh37): ENSG00000146453
PNLDC1 is in 1 panel

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Four unrelated individuals reported.
Sources: Expert Review
Created: 19 Sep 2021, 11:40 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spermatogenic failure 57, MIM# 619528

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Spermatogenic failure 57, MIM# 619528
Clinvar variants
Variants in PNLDC1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

19 Sep 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: pnldc1 has been classified as Green List (High Evidence).

19 Sep 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: pnldc1 has been classified as Green List (High Evidence).

19 Sep 2021, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PNLDC1 was added gene: PNLDC1 was added to Mendeliome. Sources: Expert Review Mode of inheritance for gene: PNLDC1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PNLDC1 were set to 34347949 Phenotypes for gene: PNLDC1 were set to Spermatogenic failure 57, MIM# 619528 Review for gene: PNLDC1 was set to GREEN