1. Panels
  2. DDG2P
  3. AFG3L2
Genes in panel
Prev Next
STRs in panel
Prev Next
Regions in panel
Prev Next

DDG2P

Gene: AFG3L2

Green List (high evidence)
AFG3L2 (AFG3 like matrix AAA peptidase subunit 2)
EnsemblGeneIds (GRCh38): ENSG00000141385
EnsemblGeneIds (GRCh37): ENSG00000141385
OMIM: 604581, Gene2Phenotype
AFG3L2 is in 20 panels

2 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The DDG2P confidence category, allelic requirement and molecular mechanism for AFG3L2-related ataxia and seizures are definitive, biallelic_autosomal and loss of function (PMIDs: 22022284, 28449981, 31111429, 32237276, 32248051). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03166.
Created: 13 Feb 2026, 9:25 p.m. | Last Modified: 13 Feb 2026, 9:25 p.m.
Panel Version: 6.17
The DDG2P confidence category for the disease AFG3L2-related ataxia and seizures, OMIM:614487 is limited. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product (PMIDs: 22022284;28449981;32237276;32248051;31111429).
Created: 4 Oct 2023, 5:08 p.m. | Last Modified: 4 Oct 2023, 5:08 p.m.
Panel Version: 3.12

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
MONDO:0013776; AFG3L2-related ataxia and seizures; OMIM:614487.0; AFG3L2-related ataxia and seizures, OMIM:614487

Publications

Created: 4 Oct 2023, 5:08 p.m.
Last Modified: 4 Oct 2023, 5:08 p.m.
Panel version: 6.17

Rebecca Foulger (Genomics England curator)

I don't know

Kept rating as Amber to reflect DDG2P Disease confidence of 'child IF' for SPINOCEREBELLAR ATAXIA 28; ATAXIA, SPASTIC, 5, AUTOSOMAL RECESSIVE.
Created: 29 Jan 2019, 12:14 p.m.
Original DDG2P rating: child IF (for all listed disorders). Multiple MOPs in DD-G2P download: all missense/in frame, loss of function. Multiple MOIs in DD-G2P download: monoallelic and biallelic.
Created: 19 Nov 2018, 11:29 a.m.
Created: 19 Nov 2018, 11:29 a.m.

Panel version: 0.95

History Filter Activity

13 Feb 2026, Gel status: 3

Added New Source, Status Update

Achchuthan Shanmugasundram (Genomics England Curator)

Source Expert Review Green was added to AFG3L2. Rating Changed from Red List (low evidence) to Green List (high evidence)

4 Oct 2023, Gel status: 1

Added New Source, Set mode of inheritance, Set publications, Status Update

Achchuthan Shanmugasundram (Genomics England Curator)

Source Expert Review Red was added to AFG3L2. Mode of inheritance for gene AFG3L2 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AFG3L2 were updated from 22964162 to 28449981; 22022284; 31111429; 32248051; 22964162; 32237276 Rating Changed from Amber List (moderate evidence) to Red List (low evidence)

29 Jan 2019, Gel status: 2

Panel promoted to version 1.0

Rebecca Foulger (Genomics England curator)

Rebecca Foulger: Original DDG2P rating: child I

19 Nov 2018, Gel status: 2

Set Phenotypes, Set publications

Rebecca Foulger (Genomics England curator)

Added phenotypes ATAXIA, SPASTIC, 5, AUTOSOMAL RECESSIVE 614487 for gene: AFG3L2 Publications for gene AFG3L2 were changed from 20208537 to 22964162

19 Nov 2018, Gel status: 2

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

Rebecca Foulger (Genomics England curator)

gene: AFG3L2 was added gene: AFG3L2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: AFG3L2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: AFG3L2 were set to 20208537 Phenotypes for gene: AFG3L2 were set to SPINOCEREBELLAR ATAXIA 28 610246