Skeletal Dysplasia_Fetal

Gene: ALG9

Green List (high evidence)

ALG9 (ALG9, alpha-1,2-mannosyltransferase)
EnsemblGeneIds (GRCh38): ENSG00000086848
EnsemblGeneIds (GRCh37): ENSG00000086848
OMIM: 606941, Gene2Phenotype
ALG9 is in 15 panels

1 review

Krithika Murali (Victorian Clinical Genetics Services)

Green List (high evidence)

Lethal skeletal dysplasia in utero reported
Sources: Literature, Expert list
Created: 11 Oct 2022, 4:07 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Congenital disorder of glycosylation, type Il, MIM#608776; Gillessen-Kaesbach-Nishimura syndrome, MIM# 263210

Publications

Details

History Filter Activity

3 Nov 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: alg9 has been classified as Green List (High Evidence).

3 Nov 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: alg9 has been classified as Green List (High Evidence).

11 Oct 2022, Gel status: 0

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

Krithika Murali (Victorian Clinical Genetics Services)

gene: ALG9 was added gene: ALG9 was added to Skeletal Dysplasia_Fetal. Sources: Literature,Expert list Mode of inheritance for gene: ALG9 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ALG9 were set to 28932688; 25966638; 26453364 Phenotypes for gene: ALG9 were set to Congenital disorder of glycosylation, type Il, MIM#608776; Gillessen-Kaesbach-Nishimura syndrome, MIM# 263210 Review for gene: ALG9 was set to GREEN