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Intellectual disability

Gene: SLC45A1

Amber List (moderate evidence)

SLC45A1 (solute carrier family 45 member 1)
EnsemblGeneIds (GRCh38): ENSG00000162426
EnsemblGeneIds (GRCh37): ENSG00000162426
OMIM: 605763, Gene2Phenotype
SLC45A1 is in 4 panels

3 reviews

Louise Daugherty (Genomics England Curator)

Comment on list classification: Changed rating from Red to Amber. As highlighted from external expert review there are 2 unrelated families reported with functional data, enough to promote this gene to amber
Created: 18 Jul 2018, 5:12 p.m.

Zornitza Stark (Australian Genomics)

I don't know

2 families reported with functional data, probably merits amber.
Created: 21 Jun 2018, 11:30 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

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

Rebecca Foulger (Genomics England curator)

Note that a I56T missense variant in SLC45A1 had previously been reported in a patient with developmental delay by Anazi et al (2017, PMID:27431290) but Srour et al (PMID:28434495) suggest that, based on functional studies, this variant is non-pathogenic.
Created: 29 Aug 2017, 11:24 a.m.
Srour et al., 2017 (PMID:28434495) report 4 individuals from 2 consanguineous families with IDDNPF (MIM:). They identify two homozygous missense mutations in SLC45A1 (A210V and R176W), and the variants segregated with disease in the families. Both variants are present at very low frequencey in ExAC but functional studies show decreased glucose transport activity of the altered proteins.
Created: 29 Aug 2017, 11:23 a.m.
Added to ID panel based on new gene-disease relationship in OMIM from June 2017 (MIM:617532).
Created: 29 Aug 2017, 11:22 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Intellectual developmental disorder with neuropsychiatric features, 617532

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Other
Phenotypes
  • Intellectual developmental disorder with neuropsychiatric features, 617532
OMIM
605763
Clinvar variants
Variants in SLC45A1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

29 Sep 2018, Gel status: 2

Added New Source

Louise Daugherty (Genomics England Curator)

Source Victorian Clinical Genetics Services was added to SLC45A1.

18 Jul 2018, Gel status: 2

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: slc45a1 has been classified as Amber List (Moderate Evidence).

12 Mar 2018, Gel status: 1

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.

29 Aug 2017, Gel status: 0

Created

Rebecca Foulger (Genomics England curator)

SLC45A1 was created by rfoulger

29 Aug 2017, Gel status: 0

Added New Source

Rebecca Foulger (Genomics England curator)

SLC45A1 was added to Intellectual disabilitypanel. Sources: Other