Mitochondrial disease
Gene: ISCA2
Over 10 unrelated families reported with bi-allelic variants in this gene and a neurodegenerative disorder that usually results in death in early childhood. Affected individuals have normal development for the first months of life, but thereafter show progressive loss of motor and social skills with hypotonia, spasticity, and nystagmus. Patients regress to a vegetative state with lack of eye contact and speech, and poor feeding. Most patients have optic atrophy, and some may develop seizures. Brain imaging shows diffuse leukodystrophy in the subcortical region, brainstem, cerebellum, and spinal cord.Created: 15 Sep 2020, 9:58 p.m. | Last Modified: 15 Sep 2020, 9:58 p.m.
Panel Version: 0.490
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Multiple mitochondrial dysfunctions syndrome 4, MIM# 616370
Publications
Gene: isca2 has been classified as Green List (High Evidence).
Phenotypes for gene: ISCA2 were changed from to Multiple mitochondrial dysfunctions syndrome 4, MIM# 616370
Publications for gene: ISCA2 were set to
Mode of inheritance for gene: ISCA2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
gene: ISCA2 was added gene: ISCA2 was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services Mode of inheritance for gene: ISCA2 was set to Unknown