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  2. Angelman Rett like syndromes
  3. SLC35F1
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Angelman Rett like syndromes

Gene: SLC35F1

Amber List (moderate evidence)
SLC35F1 (solute carrier family 35 member F1)
EnsemblGeneIds (GRCh38): ENSG00000196376
EnsemblGeneIds (GRCh37): ENSG00000196376
SLC35F1 is in 3 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Likely second individual identified internally at VCGS, AS/Rett-like phenotype and de novo Gly226Arg variant.
Created: 26 Nov 2024, 9:18 a.m. | Last Modified: 26 Nov 2024, 9:18 a.m.
Panel Version: 1.10
WES found a de novo heterozygous c.1037T>C; p.(I346T) (absent in gnomad v2 and v3) in a female described to have Rett-like syndrome.

Global developmental delay, generalized tonic andtonic–clonic seizure, never acquired independent walking and developed spastictetraplegia in adulthood and limited speech

No functional data
Sources: Literature
Created: 11 Jan 2022, 1:27 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Neurodevelopmental disorder, MONDO:0700092, SLC35F1-associated; Rett-like syndrome

Publications

Created: 11 Jan 2022, 1:27 a.m.

Panel version: 1.10

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Neurodevelopmental disorder, MONDO:0700092, SLC35F1-associated
  • Rett-like syndrome
Clinvar variants
Variants in SLC35F1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

26 Nov 2024, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: slc35f1 has been classified as Amber List (Moderate Evidence).

11 Jan 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: slc35f1 has been classified as Red List (Low Evidence).

11 Jan 2022, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SLC35F1 was added gene: SLC35F1 was added to Angelman Rett like syndromes. Sources: Literature Mode of inheritance for gene: SLC35F1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SLC35F1 were set to 33821533 Phenotypes for gene: SLC35F1 were set to Neurodevelopmental disorder, MONDO:0700092, SLC35F1-associated; Rett-like syndrome Review for gene: SLC35F1 was set to RED