Hereditary neuropathy
Gene: GALCEnsemblGeneIds (GRCh38): ENSG00000054983
EnsemblGeneIds (GRCh37): ENSG00000054983
OMIM: 606890, Gene2Phenotype
GALC is in 18 panels
2 reviews
Louise Daugherty (Genomics England Curator)
The Neurology Specialist Test Group agreed that this gene was recommended for the WGS panel based on a broader phenotype view to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. This panel includes conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation. This panel as going to be used for R78, but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy and as a result a new panel was created https://panelapp.genomicsengland.co.uk/panels/846/ for this purpose.Created: 7 Dec 2019, 6:08 p.m. | Last Modified: 7 Dec 2019, 6:08 p.m.
Panel Version: 1.352
Review and rating uploaded from file (Curation_Template_GMS_Neuro_AR_20190521.xlsx) submitted by Alex Rossor (UCL Institute of Neurology) on behalf of London North GLH for GMS Neurology specialist test group.Created: 11 Jun 2019, 1:40 p.m.
Alexander Rossor (UCL Institute of Neurology)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Krabbe. Spastic paraplegia, developmental delay, optic atrophy; adult onset has spastic paraplegia and sensory-motor axonal neuropathy with slow or normal conduction velocities, MRI shows leukodystrophy
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- NHS GMS
- London North GLH
- Phenotypes
-
- Krabbe disease, OMIM:245200
- OMIM
- 606890
- Clinvar variants
- Variants in GALC
- Penetrance
- None
- Panels with this gene
-
- Undiagnosed metabolic disorders
- Hereditary neuropathy
- Hereditary neuropathy or pain disorder
- Childhood onset dystonia, chorea or related movement disorder
- Inherited white matter disorders
- Hyperammonaemia
- Intellectual disability
- Fetal anomalies
- Adult onset leukodystrophy
- DDG2P
- Likely inborn error of metabolism
- Childhood onset hereditary spastic paraplegia
- Hereditary ataxia with onset in adulthood
- White matter disorders and cerebral calcification - narrow panel
- Early onset or syndromic epilepsy
- Krabbe disease - GALC deficiency
- Adult onset hereditary spastic paraplegia
- Lysosomal storage disorder
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: GALC were changed from Krabbe disease, 245200; Krabbe. Spastic paraplegia, developmental delay, optic atrophy; adult onset has spastic paraplegia and sensory-motor axonal neuropathy with slow or normal conduction velocities, MRI shows leukodystrophy to Krabbe disease, OMIM:245200
Added New Source, Status Update
Louise Daugherty (Genomics England Curator)Source Expert Review Green was added to GALC. Rating Changed from Red List (low evidence) to Green List (high evidence)
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for gene: GALC were changed from to Krabbe disease, 245200; Krabbe. Spastic paraplegia, developmental delay, optic atrophy; adult onset has spastic paraplegia and sensory-motor axonal neuropathy with slow or normal conduction velocities, MRI shows leukodystrophy
Set mode of inheritance
Louise Daugherty (Genomics England Curator)Mode of inheritance for gene: GALC was changed from to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to GALC.
Created, Added New Source, Set mode of inheritance
Louise Daugherty (Genomics England Curator)gene: GALC was added gene: GALC was added to Hereditary neuropathy. Sources: London North GLH Mode of inheritance for gene: GALC was set to