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Intellectual disability
Gene: SLC35A1

SLC35A1 (solute carrier family 35 member A1)
EnsemblGeneIds (GRCh38): ENSG00000164414
EnsemblGeneIds (GRCh37): ENSG00000164414
OMIM: 605634, Gene2Phenotype
SLC35A1 is in 9 panels

7 reviews

Konstantinos Varvagiannis (Other)

Green List (high evidence)

Kauskot et al. (PMID: 30115659) reported recently on 2 affected sibs with "delayed psychomotor development" (the article focuses on the hematological phenotype). These individuals were homozygous for a missense variant (NM_006416.4:c.439T>C / p.Ser147Pro).

This gene is included in the DD panel of G2P, associated with CDG (disease confidence:probable).

It is also included in gene panels for ID offered by diagnostic laboratories (incl. Radboudumc).

As a result, SLC35A1 could possibly be considered for upgrade to green.
Created: 23 Dec 2018, 11:31 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Congenital disorder of glycosylation, type IIf (MIM 603585)

Publications

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

Created: 23 Dec 2018, 11:31 a.m.

Panel version: 2.588

Louise Daugherty (Genomics England Curator)

I don't know

After external review comment on 21 Jun 2018, I have reviewed the publications again. However, the evidence remains the same, there are three unrelated families with congenital disorder of glycosylation,but only two of the three had intellectual disability the other case report is rather haematological (PMID:15576474). Gene Amber until there is an additional case to support gene-disease association for ID and rating of this gene to Green.
Created: 19 Jul 2018, 12:05 p.m.

added watchlist tag
Created: 16 Jul 2018, 9:48 a.m.

Comment on list classification: Red to Amber and added watchlist tag. Current evidence in the literature is that there are three families, however only two of the three had ID, the other case report is rather haematological. These are the same publications referenced by external expert review. Not enough evidence to make Green at present.
Created: 16 Jul 2018, 9:45 a.m.

Comment on publications: 23873973, 15576474, 28856833 there are now three families
Created: 16 Jul 2018, 9:42 a.m.

Created: 16 Jul 2018, 9:42 a.m.

Panel version: 2.195

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Please note additional report by Ng et al, bringing the total up to 3 families.
Created: 21 Jun 2018, 11:23 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

15576474, 23873973, 28856833

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

Created: 21 Jun 2018, 11:23 a.m.

Panel version: 2.108

Caroline Wright (Sanger)

I don't know

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
CONGENITAL DISORDERS OF GLYCOSYLATION

Publications

15576474

Created: 5 Nov 2017, 2:42 a.m.

Panel version: 0

Rebecca Foulger (Genomics England curator)

Red List (low evidence)

Removed watchlist tag following promotion of SLC35A1 to Green.
Created: 18 Feb 2019, 2:55 p.m.

Comment on list classification: Updated rating from Amber to Green following clinical agreement from Helen Brittain: Green review by Konstantinos Varvagiannis, and currently 3 SLC35A1 cases with ID and seizures (PMIDs: 23873973, 28856833, 30115659).
Created: 18 Feb 2019, 2:53 p.m.

Summary of evidence: There are 2 existing cases of ID and SLC35A1 variants (a Turkish patient in PMID:23873973, and a German patient in PMID:28856833). There is a further paper linking SLC35A1 to a glycosylation disorder (PMID:15576474) but without an ID or epilepsy phenotype. As noted by Konstantinos Varvagiannis, a 2018 paper (PMID:30115659) now reports 2 siblings with a haematological phenotype and a homozygous p.Ser147Pro variant in SLC35A1. The authors say that the siblings' phenotypes included delayed psychomotor development, epilepsy, ataxia, microcephaly, choreiform movements, and macrothrombocytopenia.
Created: 18 Feb 2019, 2:43 p.m.

Only 1 family reporting ID in a patient with SLC35A1 variant (PMID:23873973, 2013). Phenotypes taken from PMID:23873973. Probable DD-G2P gene for 'congenital disorder of glycosylation'.
Created: 31 Oct 2017, 9:24 a.m.

Phenotypes
Congenital disorder of glycosylation, type Iif, 603585; intellectual disability, ataxia, seizures, bleeding diathesis and proteinuria

Publications

23873973

Created: 31 Oct 2017, 9:24 a.m.

Panel version: 2.674

Lu Raymond (university of cambridge )

I don't know

Created: 23 Feb 2016, 10:11 a.m.

Panel version: 0.306

Richard Scott (Genomics England Curator)

Comment on list classification: SIngle family reported to date
Created: 8 Feb 2016, 1:06 a.m.

Created: 8 Feb 2016, 1:06 a.m.

Panel version: 0.244

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Congenital disorder of glycosylation, type IIf, 603585
intellectual disability, ataxia, seizures, bleeding diathesis and proteinuria

OMIM

605634

Clinvar variants

Variants in SLC35A1

Penetrance

Complete

Publications

Panels with this gene