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Fetal anomalies

Gene: GALNS

Green List (high evidence)

GALNS (galactosamine (N-acetyl)-6-sulfatase)
EnsemblGeneIds (GRCh38): ENSG00000141012
EnsemblGeneIds (GRCh37): ENSG00000141012
OMIM: 612222, Gene2Phenotype
GALNS is in 12 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Most appear normal at birth, with onset in the first few years of life. Spectrum of severity, some case reports of presentation with ascites/hydrops.
Created: 13 Dec 2021, 5:48 a.m. | Last Modified: 13 Dec 2021, 5:48 a.m.
Panel Version: 0.1262

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mucopolysaccharidosis IVA, MIM# 253000; MONDO:0009659

Ain Roesley (Victorian Clinical Genetics Services)

Green List (high evidence)

Well established gene-disease association. Key clinical features include short stature, skeletal dysplasia, dental anomalies, and corneal clouding. Intelligence is normal and there is no direct central nervous system (CNS) involvement, although the skeletal changes may result in neurologic complications.
Created: 13 Dec 2021, 1:58 a.m. | Last Modified: 13 Dec 2021, 1:58 a.m.
Panel Version: 0.1240

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mucopolysaccharidosis IVA, MIM# 253000; MONDO:0009659

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Mucopolysaccharidosis IVA, MIM# 253000
  • MONDO:0009659
OMIM
612222
Clinvar variants
Variants in GALNS
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Dec 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

13 Dec 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: GALNS were changed from MUCOPOLYSACCHARIDOSIS TYPE 4A to Mucopolysaccharidosis IVA, MIM# 253000; MONDO:0009659

13 Dec 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: GALNS were set to

24 Oct 2021, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: GALNS was added gene: GALNS was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: GALNS was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GALNS were set to MUCOPOLYSACCHARIDOSIS TYPE 4A