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Mendeliome

Gene: SLC31A1

Amber List (moderate evidence)

SLC31A1 (solute carrier family 31 member 1)
EnsemblGeneIds (GRCh38): ENSG00000136868
EnsemblGeneIds (GRCh37): ENSG00000136868
OMIM: 603085, Gene2Phenotype
SLC31A1 is in 5 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Homozygous c.236T>C; p.(Leu79Pro) identified in a newborn of consanguineous parents. Variant absent from gnomAD. Prenatal ultrasound showed a male fetus with short femoral bones, an apparently enlarged heart-to-thorax ratio, and a wide cisterna magna. The infant was born with pulmonary hypoplasia. At 2 weeks of age, multifocal brain hemorrhages were diagnosed and the infant developed seizures. The infant died at 1 month of age. The Mother had three healthy children while nine pregnancies had been extrauterine gravidities or ended in first or mid-trimester spontaneous abortions.
Created: 5 Jan 2023, 4:26 a.m. | Last Modified: 5 Jan 2023, 4:26 a.m.
Panel Version: 1.597

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Neurodegeneration and seizures due to copper transport defect, MIM# 620306

Publications

Daniel Flanagan (Victorian Clinical Genetics Services)

Red List (low evidence)

SLC31A1 is also referred to as CTR1.
Monozygotic twins with hypotonia, global developmental delay, seizures, and rapid brain atrophy, consistent with profound central nervous system copper deficiency. Homozygous for a novel missense variant (p.(Arg95His)) in copper transporter CTR1, both parents heterozygous. A mouse knock-out model of CTR1 deficiency resulted in prenatal lethality.
Sources: Expert list
Created: 1 Sep 2022, 10:41 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Neurodevelopmental disorder, SLC31A1-related (MONDO#0700092)

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Neurodegeneration and seizures due to copper transport defect, MIM# 620306
OMIM
603085
Clinvar variants
Variants in SLC31A1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 Apr 2023, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SLC31A1 were changed from Neurodevelopmental disorder, SLC31A1-related (MONDO#0700092) to Neurodegeneration and seizures due to copper transport defect, MIM# 620306

5 Jan 2023, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: SLC31A1 were set to PMID: 35913762

5 Jan 2023, Gel status: 2

Entity classified by Genomics England curator

Alison Yeung (Victorian Clinical Genetics Services)

Gene: slc31a1 has been classified as Amber List (Moderate Evidence).

2 Sep 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: slc31a1 has been classified as Red List (Low Evidence).

2 Sep 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: slc31a1 has been classified as Red List (Low Evidence).

1 Sep 2022, Gel status: 0

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

Daniel Flanagan (Victorian Clinical Genetics Services)

gene: SLC31A1 was added gene: SLC31A1 was added to Mendeliome. Sources: Expert list Mode of inheritance for gene: SLC31A1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC31A1 were set to PMID: 35913762 Phenotypes for gene: SLC31A1 were set to Neurodevelopmental disorder, SLC31A1-related (MONDO#0700092) Review for gene: SLC31A1 was set to RED