Neurodegeneration with brain iron accumulation
Gene: SCP2EnsemblGeneIds (GRCh38): ENSG00000116171
EnsemblGeneIds (GRCh37): ENSG00000116171
OMIM: 184755, Gene2Phenotype
SCP2 is in 6 panels
4 reviews
Shekeeb Mohammad (Children's Hospital at Westmead)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
progressive bulbar dysfunction; dementia; azoospermia; cardiac dysrhythmia
Publications
Variants in this GENE are reported as part of current diagnostic practice
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Second individual reported in 2015 with compound heterozygous LoF variants and NBIA phenotype, although underlying mechanism thought to be abnormality in VLCFA metabolism (peroxisomal disorder).Created: 10 Mar 2023, 4:30 a.m. | Last Modified: 10 Mar 2023, 4:30 a.m.
Panel Version: 0.11
Phenotypes
Leukoencephalopathy with dystonia and motor neuropathy, MIM#613724
Publications
Samantha Ayres (Victorian Clinical Genetics Services)
Just one case reported in the literature in 2006.Created: 28 Mar 2022, 1:56 a.m. | Last Modified: 28 Mar 2022, 1:56 a.m.
Panel Version: 0.5
Mode of inheritance
Unknown
Phenotypes
Leukoencephalopathy with dystonia and motor neuropathy, MIM#613724
Publications
Bryony Thompson (Royal Melbourne Hospital)
A single case with biallelic variants has been reported with neurodegeneration with brain iron accumulation and ataxia.
Sources: LiteratureCreated: 10 Nov 2020, 11:43 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neurodegeneration with brain iron accumulation; ataxia
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Literature
- Phenotypes
-
- Leukoencephalopathy with dystonia and motor neuropathy, MIM#613724
- Neurodegeneration with brain iron accumulation
- ataxia
- OMIM
- 184755
- Clinvar variants
- Variants in SCP2
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: SCP2 were changed from Neurodegeneration with brain iron accumulation; ataxia to Leukoencephalopathy with dystonia and motor neuropathy, MIM#613724; Neurodegeneration with brain iron accumulation; ataxia
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: SCP2 were set to 26497993
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: scp2 has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: scp2 has been classified as Red List (Low Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: SCP2 was added gene: SCP2 was added to Neuroferritinopathies. Sources: Literature Mode of inheritance for gene: SCP2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SCP2 were set to 26497993 Phenotypes for gene: SCP2 were set to Neurodegeneration with brain iron accumulation; ataxia Review for gene: SCP2 was set to RED