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  2. Leukodystrophy - adult onset
  3. APOPT1
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Leukodystrophy - adult onset

Gene: APOPT1

Red List (low evidence)
APOPT1 (apoptogenic 1, mitochondrial)
EnsemblGeneIds (GRCh38): ENSG00000256053
EnsemblGeneIds (GRCh37): ENSG00000256053
OMIM: 616003, Gene2Phenotype
APOPT1 is in 10 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Comment when marking as ready: Moved to paediatric leukodystrophy panel.
Created: 3 May 2020, 8:17 a.m. | Last Modified: 3 May 2020, 8:17 a.m.
Panel Version: 0.42
Cavitating leukodystrophy, onset described as late infancy/early childhood.
Created: 27 Apr 2020, 3:37 a.m. | Last Modified: 27 Apr 2020, 3:37 a.m.
Panel Version: 0.21

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mitochondrial complex IV deficiency, MIM# 220110

Publications

Created: 27 Apr 2020, 3:37 a.m.
Last Modified: 27 Apr 2020, 3:37 a.m.
Panel version: 0.42

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Royal Melbourne Hospital
Phenotypes
  • Mitochondrial complex IV deficiency, MIM#220110
OMIM
616003
Clinvar variants
Variants in APOPT1
Penetrance
None
Panels with this gene

History Filter Activity

3 May 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: apopt1 has been classified as Red List (Low Evidence).

3 May 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: apopt1 has been classified as Red List (Low Evidence).

30 Dec 2019, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: APOPT1 was added gene: APOPT1 was added to Leukodystrophy - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: APOPT1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: APOPT1 were set to Mitochondrial complex IV deficiency, MIM#220110