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Fetal anomalies

Gene: SLC25A46

Green List (high evidence)
SLC25A46 (solute carrier family 25 member 46)
EnsemblGeneIds (GRCh38): ENSG00000164209
EnsemblGeneIds (GRCh37): ENSG00000164209
OMIM: 610826, Gene2Phenotype
SLC25A46 is in 16 panels

2 reviews

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Created: 10 Oct 2023, 3:39 p.m. | Last Modified: 10 Oct 2023, 3:39 p.m.
Panel Version: 3.111

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 10 Oct 2023, 3:39 p.m.
Last Modified: 10 Oct 2023, 3:39 p.m.
Panel version: 3.111

Stephanie Allen (Birmingham Women's NHS Foundation Trust)

Green List (high evidence)

This gene and phenotype were reviewed during a meeting on 23rd Feb 2023 between representatives of the North Thames and Central & South R21 testing GLHs. Clinical review and curation was performed by Natalie Chandler (North Thames GLH), and Stephanie Allen, Esther Kinning and Megan Horton-Bell (Central & South GLH). Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Green gene.
Created: 5 May 2023, 3 p.m. | Last Modified: 5 May 2023, 3 p.m.
Panel Version: 3.8
On 16 panels, inc. IEM, severe paediatric disorders. Associated with Neuropathy, hereditary motor and sensory, type VIB (AR), Pontocerebellar hypoplasia, type 1E (AR). Wan et al., 2016 PMID 27543974: Index px of family 1: born at 38wks gestation, polyhydramnios. Affected sister born at 37.5wks, polyhydramnios, Similar postnatal clinical features: hypotonia, severe DD, small cerebellum and brainstem. Died at 4 / 2 weeks respectively. Index px of family 2: polyhydramnios, preterm labour, placental haemorrhage - delivery at 36wks. Weight and head circumference <5th centile. Brain MRI anomalies. Affected sister with same phenotype. Died 6 / 3 weeks respectively. Nguyen et al., 2016 PMID 26951855: Index px: polyhydramnios. Postnatal: respiratory insufficiency, clubfoot, hypotonia, double-sided optic atrophy. Myoclonic. Died of respiratory deficiency at 7do. Braunisch et al., 2017 PMID 28653766: German family 1: index px born at 40+3wks; pregnancy complicated by polyhydramnios and congenital talipes equinovarus. Died at 23do. Brother born at 39+0wks; pregnancy complicated by polyhydramnios. Died 1do. Yamada et al., 2022 PMID 35012485: Proband: 36wks gestation = polyhydramnios, fetal effusion and fetal ascites. Died 19do. Cerebellar hypoplasia. Elder brother - polyhydramnios, born at 36+6wks; died at 12ho due to severe neonatal asphyxia and cardiopulmonary failure with hypoplastic lungs. Conclusion: link to prenatal phenotypes (polyhydramnios, talipes, foetal effusion and ascites. Relevant
Created: 5 May 2023, 3 p.m. | Last Modified: 5 May 2023, 3 p.m.
Panel Version: 3.8

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Pontocerebellar hypoplasia, type 1E, OMIM:619303

Publications

Created: 5 May 2023, 3 p.m.
Last Modified: 5 May 2023, 3 p.m.
Panel version: 3.8

History Filter Activity

10 Oct 2023, Gel status: 3

Removed Tag, Removed Tag

Sarah Leigh (Genomics England Curator)

Tag Q2_23_promote_green was removed from gene: SLC25A46. Tag Q2_23_NHS_review was removed from gene: SLC25A46.

10 Oct 2023, Gel status: 3

Added New Source, Added New Source, Status Update

Sarah Leigh (Genomics England Curator)

Source Expert Review Green was added to SLC25A46. Source NHS GMS was added to SLC25A46. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

5 May 2023, Gel status: 2

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: SLC25A46 were set to

5 May 2023, Gel status: 2

Added Tag, Added Tag

Arina Puzriakova (Genomics England Curator)

Tag Q2_23_promote_green tag was added to gene: SLC25A46. Tag Q2_23_NHS_review tag was added to gene: SLC25A46.

5 May 2023, Gel status: 2

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

Arina Puzriakova (Genomics England Curator)

gene: SLC25A46 was added gene: SLC25A46 was added to Fetal anomalies. Sources: Expert Review Amber Mode of inheritance for gene: SLC25A46 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC25A46 were set to Pontocerebellar hypoplasia, type 1E, OMIM:619303