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IBMDx study

Gene: WIPF1

Green List (high evidence)
WIPF1 (WAS/WASL interacting protein family member 1)
EnsemblGeneIds (GRCh38): ENSG00000115935
EnsemblGeneIds (GRCh37): ENSG00000115935
OMIM: 602357, Gene2Phenotype
WIPF1 is in 9 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Two unrelated families reported, one with 4 affected individuals. Extensive functional data.
Sources: Expert list
Created: 15 Sep 2020, 6:11 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Wiskott-Aldrich syndrome 2, MIM# 614493

Publications

Created: 15 Sep 2020, 6:11 a.m.

Panel version: Imported from Bone Marrow Failure panel version 0.156

Details

Mode of Inheritance
Unknown
Sources
  • Expert Review Green
  • IBMDx Study
  • Expert Review Green
  • Expert list
Phenotypes
  • Wiskott-Aldrich syndrome 2, MIM# 614493
OMIM
602357
Clinvar variants
Variants in WIPF1
Penetrance
None
Panels with this gene

History Filter Activity

10 Dec 2021, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: WIPF1 was added gene: WIPF1 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green Mode of inheritance for gene: WIPF1 was set to Unknown Phenotypes for gene: WIPF1 were set to Wiskott-Aldrich syndrome 2, MIM# 614493