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Intellectual disability syndromic and non-syndromic

Gene: NDST1

Green List (high evidence)

NDST1 (N-deacetylase and N-sulfotransferase 1)
EnsemblGeneIds (GRCh38): ENSG00000070614
EnsemblGeneIds (GRCh37): ENSG00000070614
OMIM: 600853, Gene2Phenotype
NDST1 is in 3 panels

1 review

Krithika Murali (Victorian Clinical Genetics Services)

Green List (high evidence)

At least 8 unrelated families reported. Biallelic NDST1 variants associated with intellectual disability, muscular hypotonia, epilepsy, and postnatal growth deficiency
Created: 16 Mar 2022, 12:44 a.m. | Last Modified: 16 Mar 2022, 12:44 a.m.
Panel Version: 0.4572

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mental retardation, autosomal recessive 46 - MIM#616116

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genetic Health Queensland
Phenotypes
  • Mental retardation, autosomal recessive 46 - MIM#616116
OMIM
600853
Clinvar variants
Variants in NDST1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

16 Mar 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ndst1 has been classified as Green List (High Evidence).

16 Mar 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: NDST1 were changed from to Mental retardation, autosomal recessive 46 - MIM#616116

16 Mar 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: NDST1 were set to

16 Mar 2022, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: NDST1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: NDST1 was added gene: NDST1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: NDST1 was set to Unknown