Neonatal cholestasis

Gene: GALM

Green List (high 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)

This gene is associated with an appropriate phenotype in OMIM but not in Gene2Phenotype. There is enough evidence for this gene to be Green.

This gene was added to the Cholestasis panel by Zornitza Stark with the following review:
"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
Created: 16 Nov 2020, 11:12 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Galactosemia IV, OMIM:618881; MONDO:0030105



Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
  • Expert Review Green
  • Expert Review
  • Galactosemia IV, OMIM:618881
  • MONDO:0030105
Clinvar variants
Variants in GALM
Panels with this gene

History Filter Activity

16 Nov 2020, Gel status: 3

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: galm has been classified as Green List (High Evidence).

16 Nov 2020, Gel status: 1

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

Ivone Leong (Genomics England Curator)

gene: GALM was added gene: GALM was added to Neonatal cholestasis. Sources: Expert Review 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, OMIM:618881; MONDO:0030105 Review for gene: GALM was set to GREEN