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Regression
Gene: NDUFA12

NDUFA12 (NADH:ubiquinone oxidoreductase subunit A12)
EnsemblGeneIds (GRCh38): ENSG00000184752
EnsemblGeneIds (GRCh37): ENSG00000184752
OMIM: 614530, Gene2Phenotype
NDUFA12 is in 6 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Additional 7 individuals from 4 families reported: several had a progressive course, one specifically described as having complete regression.
Created: 17 Apr 2021, 7:57 a.m. | Last Modified: 17 Apr 2021, 7:57 a.m.

Panel Version: 0.296

Single family reported.
Created: 3 Feb 2020, 11:12 a.m. | Last Modified: 3 Feb 2020, 11:12 a.m.

Panel Version: 0.64

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mitochondrial complex I deficiency, nuclear type 23 618244

Publications

Created: 3 Feb 2020, 11:12 a.m.
Last Modified: 3 Feb 2020, 11:12 a.m.
Panel version: 0.296

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Mitochondrial complex I deficiency, nuclear type 23 618244

OMIM

Clinvar variants

Variants in NDUFA12

Penetrance

None

Publications

Panels with this gene

History Filter Activity

17 Apr 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: NDUFA12 were set to 21617257

17 Apr 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ndufa12 has been classified as Green List (High Evidence).

3 Feb 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ndufa12 has been classified as Red List (Low Evidence).

3 Feb 2020, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: NDUFA12 were changed from Mitochondrial complex I deficiency, nuclear type 23 618244 to Mitochondrial complex I deficiency, nuclear type 23 618244

3 Feb 2020, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: NDUFA12 were changed from to Mitochondrial complex I deficiency, nuclear type 23 618244

3 Feb 2020, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: NDUFA12 were set to 21617257

3 Feb 2020, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: NDUFA12 were set to

3 Feb 2020, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: NDUFA12 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

3 Feb 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ndufa12 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: NDUFA12 was added gene: NDUFA12 was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: NDUFA12 was set to Unknown