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Cerebral folate deficiency

Gene: SLC46A1

Green List (high evidence)

SLC46A1 (solute carrier family 46 member 1)
EnsemblGeneIds (GRCh38): ENSG00000076351
EnsemblGeneIds (GRCh37): ENSG00000076351
OMIM: 611672, Gene2Phenotype
SLC46A1 is in 14 panels

3 reviews

Siddharth Banka banka (Univesrsity of Manchester)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hereditary folate malabsoprtion

Publications

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

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM and as a confirmed Developmental Disorder Gene / G2P. At least 10 variants reported.
Created: 8 Dec 2016, 1:24 p.m.

Helen Savage (Congenica Ltd)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hereditary Folate Malabsorption

History Filter Activity

8 Dec 2016, Gel status: 4

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Promoted after searching for additional genes, none found (8/12/2016)

8 Dec 2016, Gel status: 4

Upload gene information

Sarah Leigh (Genomics England Curator)

SLC46A1 was added to Cerebral folate deficiencypanel. Sources: Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,UKGTN

8 Dec 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

8 Dec 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

8 Dec 2016, Gel status: 0

Set publications

Sarah Leigh (Genomics England Curator)

Publications for SLC46A1 were set to 21333572

8 Dec 2016, Gel status: 0

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for SLC46A1 were set to Folate malabsorption, hereditary 229050

7 Oct 2015, Gel status: 0

Added New Source

Siddharth Banka banka (Univesrsity of Manchester)

SLC46A1 was added to Cerebral folate deficiencypanel. Sources: Expert Review