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  3. PNPLA4
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Mitochondrial disease

Gene: PNPLA4

Red List (low evidence)
PNPLA4 (patatin like phospholipase domain containing 4)
EnsemblGeneIds (GRCh38): ENSG00000006757
EnsemblGeneIds (GRCh37): ENSG00000006757
OMIM: 300102, Gene2Phenotype
PNPLA4 is in 2 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Only a single case reported in the literature to date, loss-of-function variant in a male, inherited from unaffected mother.
Created: 18 Nov 2019, 11:22 p.m. | Last Modified: 18 Nov 2019, 11:22 p.m.
Panel Version: 0.1

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Publications

Created: 18 Nov 2019, 11:22 p.m.
Last Modified: 18 Nov 2019, 11:22 p.m.
Panel version: 0.313

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Mitochondrial Flagship
OMIM
300102
Clinvar variants
Variants in PNPLA4
Penetrance
None
Publications
Panels with this gene

History Filter Activity

23 Mar 2020, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: PNPLA4 were set to

23 Mar 2020, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: PNPLA4 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females

23 Mar 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: pnpla4 has been classified as Red List (Low Evidence).

18 Nov 2019, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: pnpla4 has been classified as Amber List (Moderate Evidence).

18 Nov 2019, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: pnpla4 has been classified as Amber List (Moderate Evidence).

18 Nov 2019, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: pnpla4 has been classified as Amber List (Moderate Evidence).

18 Nov 2019, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: pnpla4 has been classified as Amber List (Moderate Evidence).

18 Nov 2019, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: pnpla4 has been classified as Amber List (Moderate Evidence).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PNPLA4 was added gene: PNPLA4 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: PNPLA4 was set to Unknown