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  2. Mucopolysaccharideosis, Gaucher, Fabry
  3. GALNS
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Mucopolysaccharideosis, Gaucher, Fabry

Gene: GALNS

Green List (high evidence)
GALNS (galactosamine (N-acetyl)-6-sulfatase)
EnsemblGeneIds (GRCh38): ENSG00000141012
EnsemblGeneIds (GRCh37): ENSG00000141012
OMIM: 612222, Gene2Phenotype
GALNS is in 13 panels

3 reviews

alisdair mcneill (Sheffield childrens hospital)

Green List (high evidence)

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

Created: 1 Jul 2016, 8:01 a.m.

Panel version: Imported from "Coarse facial features including Coffin-Siris-like disorders" panel version 0.38

Ellen McDonagh (Genomics England Curator)

Comment when marking as ready: Green gene, with a green review and is a "both DD and IF" gene on G2P. Mode of inheritance confirmed on G2P and OMIM.
Created: 29 Feb 2016, 5:50 p.m.
Created: 29 Feb 2016, 5:50 p.m.

Panel version: 0.3

Helen Savage (Congenica Ltd)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mucopolysaccharidosis type IVA

Created: 10 Feb 2016, 11:20 a.m.

Panel version: 0.0

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Mucopolysaccharidosis IVA, 253000
  • Mucopolysaccharidosis, Type IV
  • Mucopolysaccharidosis Type IVA
  • MUCOPOLYSACCHARIDOSIS TYPE 4A
OMIM
612222
Clinvar variants
Variants in GALNS
Penetrance
Complete
Panels with this gene

History Filter Activity

29 Feb 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

29 Feb 2016, Gel status: 3

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for GALNS were set to Mucopolysaccharidosis IVA, 253000; Mucopolysaccharidosis, Type IV; Mucopolysaccharidosis Type IVA; MUCOPOLYSACCHARIDOSIS TYPE 4A

3 Aug 2015, Gel status: 3

Added New Source

Eik Haraldsdottir (Genomics England)

GALNS was added to Mucopolysaccharideosis, Gaucher, Fabrypanel. Sources: Emory Genetics Laboratory

3 Aug 2015, Gel status: 2

Set Mode of Inheritance

Eik Haraldsdottir (Genomics England)

Model of inheritance for gene GALNS was changed to BIALLELIC, autosomal or pseudoautosomal

3 Aug 2015, Gel status: 2

Added New Source

Eik Haraldsdottir (Genomics England)

GALNS was added to Mucopolysaccharideosis, Gaucher, Fabrypanel. Sources: Illumina TruGenome Clinical Sequencing Services

3 Aug 2015, Gel status: 1

Added New Source

Eik Haraldsdottir (Genomics England)

GALNS was added to Mucopolysaccharideosis, Gaucher, Fabrypanel. Sources: Radboud University Medical Center, Nijmegen