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Cataracts

Gene: PANK4

Amber List (moderate evidence)

PANK4 (pantothenate kinase 4)
EnsemblGeneIds (GRCh38): ENSG00000157881
EnsemblGeneIds (GRCh37): ENSG00000157881
OMIM: 606162, Gene2Phenotype
PANK4 is in 1 panel

2 reviews

Ivone Leong (Genomics England Curator)

Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a relevant phenotype in Gene2Phenotype but not OMIM. There is currently not enough evidence to support a gene-disease association. Therefore, this gene has been given an Amber rating.
Created: 11 Dec 2020, 2:35 p.m. | Last Modified: 11 Dec 2020, 2:35 p.m.
Panel Version: 2.25

Zornitza Stark (Australian Genomics)

I don't know

Variant segregated with cataract in single 4-generation family, functional data including mouse model.
Sources: Expert list
Created: 8 Jul 2020, 8:07 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Congenital posterior cataract

Publications

Details

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

History Filter Activity

11 Dec 2020, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

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

11 Dec 2020, Gel status: 0

Added Tag

Ivone Leong (Genomics England Curator)

Tag watchlist tag was added to gene: PANK4.

8 Jul 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: PANK4 was added gene: PANK4 was added to Cataracts. Sources: Expert list 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