Genes in panel

Inborn errors of metabolism

Gene: GALM

Amber List (moderate evidence)

GALM (galactose mutarotase)
EnsemblGeneIds (GRCh38): ENSG00000143891
EnsemblGeneIds (GRCh37): ENSG00000143891
OMIM: 137030, Gene2Phenotype
GALM is in 4 panels

1 review

Ivone Leong (Genomics England Curator)

Green List (high evidence)

New gene added by Zornitza Stark (Australian Genomics). This gene is associated with an appropriate phenotype in OMIM but not in Gene2Phenotype. There is enough evidence for this gene to be Green. The gene has been given an Amber rating and will be promoted to Green at the next review.

Review from Zornitza Stark (Australian Genomics) on the Cholestasis panel:
Homozygous and compound heterozygous variants (missense, nonsense and frameshift) found in 8 Japanese patients from unrelated families with unexplained galactosaemia. (No variants in GALT, GALK1, and GALE). In vitro expression analysis and enzyme activity assay of the patients’ peripheral blood mononuclear cells showed total lack of or compromised expression of GALM protein. One homozygote for one of these variants p.(Gly142Arg) in gnomAD (African population). (Wada, Y. et al 2019; PMID: 30451973) Note only two individuals were reported as having transient cholestasis. Sources: Literature
Zornitza Stark (Australian Genomics), 2 May 2020
Sources: Expert Review, Literature
Created: 13 Nov 2020, 1:49 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Galactosemia IV, 618881

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
  • Expert Review
Phenotypes
  • Galactosemia IV, OMIM:618881
  • MONDO:0030105
Tags
for-review
OMIM
137030
Clinvar variants
Variants in GALM
Penetrance
None
Publications
Panels with this gene

History Filter Activity

16 Nov 2020, Gel status: 2

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: GALM were changed from Galactosemia IV, 618881 to Galactosemia IV, OMIM:618881; MONDO:0030105

16 Nov 2020, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

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

13 Nov 2020, Gel status: 1

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

Ivone Leong (Genomics England Curator)

gene: GALM was added gene: GALM was added to Inborn errors of metabolism. Sources: Expert Review,Literature for-review tags were added to gene: GALM. Mode of inheritance for gene: GALM was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GALM were set to 30451973; 30910422 Phenotypes for gene: GALM were set to Galactosemia IV, 618881 Review for gene: GALM was set to GREEN