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Newborns main panel

Gene: GALC

Amber List (moderate evidence)
GALC (galactosylceramidase)
EnsemblGeneIds (GRCh38): ENSG00000054983
EnsemblGeneIds (GRCh37): ENSG00000054983
OMIM: 606890, Gene2Phenotype
GALC is in 18 panels

1 review

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is loss-of-function (LOF).
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.
Panel Version: 0.137
PMID: 34449528 and curated in 2022 by ClinGen: https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d17202fb-89c4-4bf6-ad57-4b8c541dc808-2022-06-15T160000.000Z?page=1&size=25&search=
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.
Panel Version: 0.134
Common 30kb deletion in 40% of North Europe and Mexican cases. From genereivews: Three common GALC variants (p.Arg184Cys, p.Asp248Asn, and p.Ile562Thr) attenuate GALC enzyme activity [Saavedra-Matiz et al 2016]. Although not disease-causing, their presence complicates the interpretation of the clinical significance of low enzyme activity. However, p.Ile562Thr [legacy: p.Ile546Thr] has been shown to be disease causing when in cis with another mild pathogenic variant, e.g. p.Thr112Ala [legacy: p.Thr96Ala] [Wenger et al 2014, Saavedra-Matiz et al 2016]. Furthermore, other non-disease-causing variants reduce in vitro enzyme activity measurements detected by newborn screening in asymptomatic individuals.
Created: 1 Jun 2023, 12:20 p.m. | Last Modified: 1 Jun 2023, 12:20 p.m.
Panel Version: 0.133
Created: 1 Jun 2023, 12:20 p.m.
Last Modified: 1 Jun 2023, 12:20 p.m.
Panel version: 0.137

History Filter Activity

14 Sep 2023, Gel status: 2

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to GALC. Added phenotypes Krabbe disease for gene: GALC Rating Changed from Green List (high evidence) to Amber List (moderate evidence)

5 Jul 2023, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to GALC. Added phenotypes Krabbe disease for gene: GALC Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

31 May 2023, Gel status: 2

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to GALC. Added phenotypes Krabbe disease for gene: GALC Rating Changed from Green List (high evidence) to Amber List (moderate evidence)

5 May 2023, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to GALC. Added phenotypes Krabbe disease for gene: GALC Rating Changed from No List (delete) to Green List (high evidence)

9 Mar 2023, Gel status: 0

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Krabbe disease for gene: GALC

9 Mar 2023, Gel status: 0

Created, Added New Source, Set mode of inheritance

Mafalda Gomes (Genomics England Curator)

gene: GALC was added gene: GALC was added to Newborns main panel. Sources: Expert Review Removed Mode of inheritance for gene: GALC was set to BIALLELIC, autosomal or pseudoautosomal