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  3. SLC41A1
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Additional findings_Paediatric

Gene: SLC41A1

Red List (low evidence)
SLC41A1 (solute carrier family 41 member 1)
EnsemblGeneIds (GRCh38): ENSG00000133065
EnsemblGeneIds (GRCh37): ENSG00000133065
OMIM: 610801, Gene2Phenotype
SLC41A1 is in 4 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Single family reported.
Created: 10 Aug 2021, 10:13 p.m. | Last Modified: 10 Aug 2021, 10:13 p.m.
Panel Version: 0.253

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Nephronophthisis-like nephropathy 2, MIM# 619468

Publications

Created: 10 Aug 2021, 10:13 p.m.
Last Modified: 10 Aug 2021, 10:13 p.m.
Panel version: 0.253

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • BabySeq Category C gene
Phenotypes
  • Nephronophthisis-like nephropathy 2, MIM# 619468
OMIM
610801
Clinvar variants
Variants in SLC41A1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

10 Aug 2021, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: slc41a1 has been classified as Red List (Low Evidence).

10 Aug 2021, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SLC41A1 were changed from Parkinson disease, idiopathic to Nephronophthisis-like nephropathy 2, MIM# 619468

10 Aug 2021, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: SLC41A1 were set to

10 Aug 2021, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: SLC41A1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal

27 Aug 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SLC41A1 was added gene: SLC41A1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red Mode of inheritance for gene: SLC41A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: SLC41A1 were set to Parkinson disease, idiopathic