Inherited white matter disorders

Gene: ATPAF2

Amber List (moderate evidence)

ATPAF2 (ATP synthase mitochondrial F1 complex assembly factor 2)
EnsemblGeneIds (GRCh38): ENSG00000171953
EnsemblGeneIds (GRCh37): ENSG00000171953
OMIM: 608918, Gene2Phenotype
ATPAF2 is in 10 panels

3 reviews

Ellen Thomas (Genomics England Curator)

Comment on list classification: Only 1 family reported but green on mitochondrial panel. Leave as amber here for now until decision re mt panel.
Created: 6 Oct 2016, 9:27 a.m.

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Rated green and diagnostic-grade by expert reviewer, however only one case found in the literature (PMID: 14757859). On the Minimum recommended gene list for broad spectrum genetic testing for single-nucleotide variants associated with leukodystrophies and genetic leukoencephalopathies reported in PMID: 25655951.

Created: 12 Aug 2016, 11:40 a.m.

Ian Berry (Leeds Genetics Laboratory)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
General Leukodystrophy & Mitochondrial Leukoencephalopathy

Publications

  • Parikh et al. Molecular Genetics and Metabolism 114 (2015) 501_669

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Mitochondrial Leukoencephalopathy
  • Mitochondrial complex V disorders
  • General Leukodystrophy & Mitochondrial Leukoencephalopathy
OMIM
608918
Clinvar variants
Variants in ATPAF2
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

6 Oct 2016, Gel status: 2

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

6th Oct 2016: Panel promoted to version 1 after expert review and input, further curation and clinical input.

6 Oct 2016, Gel status: 2

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

6 Oct 2016, Gel status: 2

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

12 Aug 2016, Gel status: 2

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for ATPAF2 were set to 14757859; 25655951;21815885 (no variants identified)

12 Aug 2016, Gel status: 2

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for ATPAF2 were set to Mitochondrial Leukoencephalopathy;Mitochondrial complex V disorders;General Leukodystrophy & Mitochondrial Leukoencephalopathy

12 Aug 2016, Gel status: 2

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for ATPAF2 were set to 14757859; 25655951

12 Aug 2016, Gel status: 2

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

12 Aug 2016, Gel status: 2

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

4 Aug 2016, Gel status: 0

Created

Ian Berry (Leeds Genetics Laboratory)

ATPAF2 was created by [email protected]

4 Aug 2016, Gel status: 0

Added New Source

Ian Berry (Leeds Genetics Laboratory)

ATPAF2 was added to Inherited white matter disorderspanel. Sources: Expert list