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Regression
Gene: PET100

PET100 (PET100 homolog)
EnsemblGeneIds (GRCh38): ENSG00000229833
EnsemblGeneIds (GRCh37): ENSG00000229833
OMIM: 614770, Gene2Phenotype
PET100 is in 10 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

More than 10 Lebanese families reported with same homozygous founder variant, p.Met1? . One other family reported with a different bi-allelic LOF variant. Onset of severe disease in infancy rather than regression.
Created: 25 Oct 2020, 9:15 a.m. | Last Modified: 25 Oct 2020, 9:15 a.m.

Panel Version: 0.190

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mitochondrial complex IV deficiency, nuclear type 12, MIM# 619055

Publications

Created: 25 Oct 2020, 9:15 a.m.
Last Modified: 25 Oct 2020, 9:15 a.m.
Panel version: 0.190

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Red
Victorian Clinical Genetics Services

Phenotypes

Mitochondrial complex IV deficiency, nuclear type 12, MIM# 619055

OMIM

Clinvar variants

Variants in PET100

Penetrance

None

Publications

Panels with this gene

History Filter Activity

25 Oct 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: pet100 has been classified as Red List (Low Evidence).

25 Oct 2020, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: PET100 were changed from to Mitochondrial complex IV deficiency, nuclear type 12, MIM# 619055

25 Oct 2020, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: PET100 were set to 24462369; 25293719; 31406627

25 Oct 2020, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: PET100 were set to

25 Oct 2020, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: PET100 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

25 Oct 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: pet100 has been classified as Red List (Low Evidence).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PET100 was added gene: PET100 was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: PET100 was set to Unknown