White matter disorders and cerebral calcification - narrow panel
Gene: ISCA1EnsemblGeneIds (GRCh38): ENSG00000135070
EnsemblGeneIds (GRCh37): ENSG00000135070
OMIM: 611006, Gene2Phenotype
ISCA1 is in 5 panels
3 reviews
Sarah Leigh (Genomics England Curator)
The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.Created: 30 Jan 2023, 4:26 p.m. | Last Modified: 30 Jan 2023, 4:26 p.m.
Panel Version: 2.9
Ivone Leong (Genomics England Curator)
Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a phenotype in OMIM but not in Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be rated Green at the next review.Created: 1 Jun 2021, 1:33 p.m. | Last Modified: 1 Jun 2021, 1:33 p.m.
Panel Version: 1.129
Zornitza Stark (Australian Genomics)
Multiple unrelated families reported. Severe disorder characterised by progressive neurologic deterioration beginning in early infancy. Affected individuals have essentially no psychomotor development and have early-onset seizures with neurologic decline and spasticity. Brain imaging shows severe leukodystrophy with evidence of dys- or delayed myelination. Rat model results in early lethality. Founder variant c.259G > A, p.(Glu87Lys) reported in Indian families.
Sources: Expert listCreated: 15 Sep 2020, 9:49 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Multiple mitochondrial dysfunctions syndrome 5, MIM# 617613
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- NHS GMS
- Phenotypes
-
- Multiple mitochondrial dysfunctions syndrome 5, OMIM:617613
- OMIM
- 611006
- Clinvar variants
- Variants in ISCA1
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Removed Tag
Sarah Leigh (Genomics England Curator)Tag Q2_21_rating was removed from gene: ISCA1.
Added New Source, Added New Source, Status Update
Sarah Leigh (Genomics England Curator)Source NHS GMS was added to ISCA1. Source Expert Review Green was added to ISCA1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Added Tag
Ivone Leong (Genomics England Curator)Tag Q2_21_rating tag was added to gene: ISCA1.
Entity classified by Genomics England curator
Ivone Leong (Genomics England Curator)Gene: isca1 has been classified as Amber List (Moderate Evidence).
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: ISCA1 were changed from Multiple mitochondrial dysfunctions syndrome 5, MIM# 617613 to Multiple mitochondrial dysfunctions syndrome 5, OMIM:617613
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Australian Genomics)gene: ISCA1 was added gene: ISCA1 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert list Mode of inheritance for gene: ISCA1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ISCA1 were set to 28356563; 32092383; 31016283; 30113620; 30105122 Phenotypes for gene: ISCA1 were set to Multiple mitochondrial dysfunctions syndrome 5, MIM# 617613 Review for gene: ISCA1 was set to GREEN gene: ISCA1 was marked as current diagnostic