Comment on list classification: 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.
Created: 13 Nov 2020, 1:48 p.m. | Last Modified: 13 Nov 2020, 1:48 p.m.
Panel Version: 1.61
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.
Created: 2 May 2020, 2:31 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
type IV galactosaemia
Phenotypes for gene: GALM were changed from Galactosemia IV, 618881 to Galactosemia IV, OMIM:618881; MONDO:0030105
Gene: galm has been classified as Amber List (Moderate Evidence).
Tag for-review tag was added to gene: GALM.
Phenotypes for gene: GALM were changed from type IV galactosaemia to Galactosemia IV, 618881
gene: GALM was added gene: GALM was added to Cholestasis. Sources: Literature 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 type IV galactosaemia Review for gene: GALM was set to GREEN