Retinal disorders
Gene: PANK2
PANK2 (pantothenate kinase 2)
EnsemblGeneIds (GRCh38): ENSG00000125779
EnsemblGeneIds (GRCh37): ENSG00000125779
OMIM: 606157, Gene2Phenotype
PANK2 is in 12 panels
EnsemblGeneIds (GRCh38): ENSG00000125779
EnsemblGeneIds (GRCh37): ENSG00000125779
OMIM: 606157, Gene2Phenotype
PANK2 is in 12 panels
2 reviews
Gavin Arno (UCL Institute of Ophthalmology/Moorfields Eye Hospital)
Ellen McDonagh (Genomics England Curator)
This gene is on the Manchester Genetic Retinal Degeneration Conditions panel (covers known genes for isolated progessive retinal degeneration, Leber congenital amaurosis, macular dystrophy, achromatopsia, congenital stationary night blindness as well as the two most common causes of syndromic blindess Usher and Bardet-Biedl syndromes and additional syndromes including Joubert, Senior-Loken, and Cohen syndrome.Created: 2 Jun 2016, 8:05 a.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Green
- Expert list
- Phenotypes
-
- HARP syndrome
- Neurodegeneration with brain iron accumulation 1
- OMIM
- 606157
- Clinvar variants
- Variants in PANK2
- Penetrance
- Complete
- Panels with this gene
-
- Possible mitochondrial disorder, nuclear genes
- Mitochondrial disorders
- Intellectual disability
- Structural basal ganglia disorders
- Parkinson Disease and Complex Parkinsonism
- Likely inborn error of metabolism
- Neurodegenerative disorders, adult onset
- Early onset dystonia
- Retinal disorders
- Dystonia, chorea or related movement disorder, adult onset
- Undiagnosed metabolic disorders
- Dystonia, chorea or related movement disorder, childhood onset
History Filter Activity
3 Apr 2019, Gel status: 3
Added New Source, Status Update
Ivone Leong (Genomics England Curator)Source NHS GMS was added to PANK2. Rating Changed from Green List (high evidence) to Green List (high evidence)
23 Mar 2016, Gel status: 4
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
23 Mar 2016, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)PANK2 was added to Posterior segment abnormalitiespanel. Sources: Expert list
23 Mar 2016, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)PANK2 was created by ellenmcdonagh