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  3. PANK4
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Cataract

Gene: PANK4

Amber List (moderate evidence)
PANK4 (pantothenate kinase 4)
EnsemblGeneIds (GRCh38): ENSG00000157881
EnsemblGeneIds (GRCh37): ENSG00000157881
OMIM: 606162, Gene2Phenotype
PANK4 is in 2 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Variant segregated with cataract in single 4-generation family, functional data including mouse model.
Sources: Literature
Created: 15 Dec 2019, 11:20 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Cataract 49, MIM# 619593; Congenital posterior cataract

Publications

Created: 15 Dec 2019, 11:20 p.m.

Panel version: 0.291

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Cataract 49, MIM# 619593
  • Congenital posterior cataract
OMIM
606162
Clinvar variants
Variants in PANK4
Penetrance
None
Publications
Panels with this gene

History Filter Activity

28 Oct 2021, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: PANK4 were changed from Congenital posterior cataract to Cataract 49, MIM# 619593; Congenital posterior cataract

15 Dec 2019, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: pank4 has been classified as Amber List (Moderate Evidence).

15 Dec 2019, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: pank4 has been classified as Amber List (Moderate Evidence).

15 Dec 2019, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PANK4 was added gene: PANK4 was added to Cataract_VCGS. Sources: Literature Mode of inheritance for gene: PANK4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PANK4 were set to 30585370 Phenotypes for gene: PANK4 were set to Congenital posterior cataract Review for gene: PANK4 was set to AMBER