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Intellectual disability

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

6 reviews

Arina Puzriakova (Genomics England Curator)

Comment on list classification: This gene should be downgraded from Green to Red at the next major review, in accordance with the review by Zornitza Stark.
Created: 21 Sep 2020, 11:51 a.m. | Last Modified: 21 Sep 2020, 11:51 a.m.
Panel Version: 3.324

Zornitza Stark (Australian Genomics)

Red List (low evidence)

Variants in this gene cause a neurodegenerative disorder, primarily characterised by ataxia. Although mild cognitive impairment is reported in some, intellectual disability is not a typical feature.
Created: 27 Jan 2020, 5:31 a.m. | Last Modified: 27 Jan 2020, 5:31 a.m.
Panel Version: 3.0

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spastic ataxia 5, autosomal recessive, MIM#614487

Caroline Wright (Sanger)

I don't know

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
SPINOCEREBELLAR ATAXIA 28

Publications

  • 0

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

This is a pertinent gene from the NIHR BioResource - Rare Diseases Study (NIHRBR-RD) BRIDGE Study : SPEED (Specialist Pathology: Evaluating Exomes in Diagnostics) which covers epilepsies, movement and microcephaly disorders, this gene is on the SPEED_NEURO_20170705 gene list. Evidences used for SPEED NEURO gene list: in_ddg2p_20141118_conf;in_ddg2p_20141118_conf;in_ddg2p_201507;in_ddg2p_201507_conf;in_ddg2p_2_4_2017;in_omim_20150205_movement;in_movement_disorder_list . Main mutation mechanism : Loss of function; All missense/in frame
Created: 27 Jul 2017, 5 p.m.
Evidences key, gene present in following gene lists and main mutation mechanism : ddg2p_20141118; ddg2p_20141118_conf; ddg2p_201507; ddg2p_201507_conf; omim_20150205_movement; manju_list; Nijmegen_ID_candidates; GEL_ID_green_20160217; neuro_20160418_strict; Loss of function; All missense/in frame. This is a pertinent gene from the BRIDGE Study : SPEED (Specialist Pathology: Evaluating Exomes in Diagnostics) which covers epilepsies, movement and microcephaly disorders, this gene comes from the SPEED_NEURO_v3.0_20170404 gene list. The following experts from the BRIDGE consortium NIHRBR-RD contributed to this panel: - Professor F. Lucy Raymond, Cambridge Institute for Medical Research, University of Cambridge - Manju Kurian, Paediatric neurologist, Great Ormond Street Hosptial - Keren Carss, NIHR BioResource - Rare Diseases, Cambridge University Hospitals NHS Foundation Trust - Alba Sanchis-Juan, NIHR BioResource - Rare Diseases, Cambridge University Hospitals NHS Foundation Trust - Marie Erwood NIHR BioResource - Rare Diseases, Cambridge University Hospitals NHS Foundation Trust - Louise Daugherty, NIHR BioResource - Rare Diseases, Cambridge University Hospitals NHS Foundation Trust
Created: 19 Jul 2017, 11:56 a.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Publications

  • 25529582
  • omim.org
  • Personal communication with NIHRBRRD BRIDGE SPEED

Lu Raymond (university of cambridge )

I don't know

Richard Scott (Genomics England Curator)

Comment on mode of inheritance: Only biallelic mutations (where cognitive decline is seen) not monoallelic mutations
Created: 29 Jan 2016, 4:59 p.m.
Comment on list classification: Should be included, but only biallelic mutations (where cognitive decline is seen) not monoallelic mutations
Created: 29 Jan 2016, 4:55 p.m.

History Filter Activity

21 Sep 2020, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: AFG3L2 were changed from SPINOCEREBELLAR ATAXIA 28 to Spastic ataxia 5, autosomal recessive, 614487

21 Sep 2020, Gel status: 3

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: afg3l2 has been classified as Green List (High Evidence).

21 Sep 2020, Gel status: 3

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: AFG3L2 were set to 22022284

21 Sep 2020, Gel status: 3

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag for-review tag was added to gene: AFG3L2.

12 Mar 2018, Gel status: 3

Panel promoted to version 2.0

Ellen McDonagh (Genomics England Curator)

12.03.2018: Due to major updates completed (Phase 1, 2 and 3), this panel was promoted to Version 2 in order to reflect the major updates since November 2017 which have resulted in reviews for 836 genes added by Genomics England Curators and the Clinical Team, 130 new Green genes added to the interpretation pipeline (from 751 to 881 Green genes), and the gene total has increased from 1879 to 1927.

29 Jan 2016, Gel status: 4

Gene classified by Genomics England curator

Richard Scott (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

29 Jan 2016, Gel status: 4

Set Mode of Inheritance

Richard Scott (Genomics England Curator)

Mode of inheritance for AFG3L2 was changed to BIALLELIC, autosomal or pseudoautosomal

29 Jan 2016, Gel status: 4

Set publications

Richard Scott (Genomics England Curator)

Publications for AFG3L2 were set to 22022284

29 Jan 2016, Gel status: 4

Gene classified by Genomics England curator

Richard Scott (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

13 Nov 2015, Gel status: 2

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 2

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

AFG3L2 was created by ellenmcdonagh

13 Nov 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

AFG3L2 was added to Intellectual disabilitypanel. Sources: Expert Review Amber