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Mendeliome

Gene: PMFBP1

Green List (high evidence)

PMFBP1 (polyamine modulated factor 1 binding protein 1)
EnsemblGeneIds (GRCh38): ENSG00000118557
EnsemblGeneIds (GRCh37): ENSG00000118557
PMFBP1 is in 1 panel

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

More than 3 unrelated families reported.
Created: 24 Apr 2022, 8:34 a.m. | Last Modified: 24 Apr 2022, 8:34 a.m.
Panel Version: 0.13251

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Male infertility with teratozoospermia due to single gene mutation, MONDO:0018394

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Male infertility with teratozoospermia due to single gene mutation, MONDO:0018394
Clinvar variants
Variants in PMFBP1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

24 Apr 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: pmfbp1 has been classified as Green List (High Evidence).

24 Apr 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: PMFBP1 were changed from to Male infertility with teratozoospermia due to single gene mutation, MONDO:0018394

24 Apr 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: PMFBP1 were set to

24 Apr 2022, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: PMFBP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PMFBP1 was added gene: PMFBP1 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: PMFBP1 was set to Unknown