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Intellectual disability

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 2 panels

4 reviews

Helen Brittain (Genomics England Curator)

Comment when marking as ready: Sufficient cases, appropriate phenotype
Created: 5 Mar 2018, 12:27 p.m.
Comment on mode of pathogenicity: All reported pathogenic variants to date have been missense; occurring at highly conserved residues in the sulfotransferase domain, predicted to change the substrate-binding domain and/or to disrupt the 3-dimensional structure of the enzyme.
Created: 5 Mar 2018, 12:26 p.m.

Louise Daugherty (Genomics England Curator)

Comment on list classification: Changed rating from Red to Green as there is enough evidence in the literature to support intellectual disability phenotype.
Created: 15 Feb 2018, 4:29 p.m.
Comment on phenotypes: Mental retardation, autosomal recessive 46 (MRT46) is a disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRT46 manifestations include delayed psychomotor development apparent from infancy or early childhood, delayed or absent expressive speech, hypotonia, and therapy-responsive seizures in some patients. Behavioral abnormalities are variable and include aggression, self-injurious behavior, and sleep disturbances.
Created: 15 Feb 2018, 4:26 p.m.
Comment on mode of inheritance: from OMIM The transmission pattern of MRT46 in the families reported by Reuter et al., 2014 (PMID:25125150) was consistent with autosomal recessive inheritance.
Created: 15 Feb 2018, 4:22 p.m.
Comment on publications: Reuter et al., 2014 (PMID:25125150) reported 8 patients from 4 unrelated families with nonsyndromic intellectual disability. Two of the families had previously been reported by Najmabadi et al., 2011 (PMID:21937992)
Created: 15 Feb 2018, 4:20 p.m.

Caroline Wright (Sanger)

Red List (low evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
AUTOSOMAL RECESSIVE MENTAL RETARDATION

Publications

Lu Raymond (university of cambridge )

Red List (low evidence)

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Red
Phenotypes
  • Mental retardation, autosomal recessive 46, 616116
  • MRT46
  • Intellectual disability
OMIM
600853
Clinvar variants
Variants in NDST1
Penetrance
Complete
Publications
Mode of Pathogenicity
Other - please provide details in the comments
Panels with this gene

History Filter Activity

12 Mar 2018, Gel status: 4

Panel promoted to version 2.0

Ellen McDonagh (Genomics England Curator)

12.03.2018: Due to major updates completed (Phase 1, 2 and 3), this panel was promoted to Version 2 in order to reflect the major updates since November 2017 which have resulted in reviews for 836 genes added by Genomics England Curators and the Clinical Team, 130 new Green genes added to the interpretation pipeline (from 751 to 881 Green genes), and the gene total has increased from 1879 to 1927.

12 Mar 2018, Gel status: 4

Set mode of pathogenicity

Ellen McDonagh (Genomics England Curator)

Mode of pathogenicity for NDST1 was changed to Other - please provide details in the comments

12 Mar 2018, Gel status: 4

Added New Source, Set publications

Ellen McDonagh (Genomics England Curator)

Expert Review Green was added to NDST1. Panel: Intellectual disability Publications for gene NDST1 was set to ['25125150', '21937992']

13 Nov 2015, Gel status: 1

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 2

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

NDST1 was created by ellenmcdonagh

13 Nov 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

NDST1 was added to Intellectual disabilitypanel. Sources: Expert Review Red