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Intellectual disability syndromic and non-syndromic

Gene: ELAC2

Green List (high evidence)

ELAC2 (elaC ribonuclease Z 2)
EnsemblGeneIds (GRCh38): ENSG00000006744
EnsemblGeneIds (GRCh37): ENSG00000006744
OMIM: 605367, Gene2Phenotype
ELAC2 is in 8 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

In 5 patients from 3 unrelated families with combined oxidative phosphorylation deficiency-17 (COXPD17; 615440) manifest as severe infantile-onset hypertrophic cardiomyopathy, Haack et al. (2013) identified compound heterozygous or homozygous mutations in the ELAC2 gene. The initial mutations were found be exome sequencing. In addition to cardiomyopathy, which resulted in death in childhood in 3 patients, affected individuals had hypotonia, lactic acidosis, poor growth, and delayed psychomotor development. Biochemical studies in patient skeletal muscle showed decreased mitochondrial complex I activity; some cells also showed decreases in complex IV.
Created: 26 Nov 2021, 2:24 a.m. | Last Modified: 26 Nov 2021, 2:24 a.m.
Panel Version: 0.4310

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Combined oxidative phosphorylation deficiency 17, MIM#615440

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genetic Health Queensland
Phenotypes
  • Combined oxidative phosphorylation deficiency 17, MIM#615440
OMIM
605367
Clinvar variants
Variants in ELAC2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

26 Nov 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: elac2 has been classified as Green List (High Evidence).

26 Nov 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ELAC2 were changed from to Combined oxidative phosphorylation deficiency 17, MIM#615440

26 Nov 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: ELAC2 were set to

26 Nov 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: ELAC2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ELAC2 was added gene: ELAC2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: ELAC2 was set to Unknown