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Intellectual disability

Gene: GBA2

Amber List (moderate evidence)

GBA2 (glucosylceramidase beta 2)
EnsemblGeneIds (GRCh38): ENSG00000070610
EnsemblGeneIds (GRCh37): ENSG00000070610
OMIM: 609471, Gene2Phenotype
GBA2 is in 14 panels

8 reviews

Zornitza Stark (Australian Genomics)

Red List (low evidence)

Progressive neurodegenerative condition with childhood onset rather than truly ID.
Created: 4 Feb 2020, 9:28 a.m. | Last Modified: 4 Feb 2020, 9:28 a.m.
Panel Version: 3.0

Phenotypes
Spastic paraplegia 46, autosomal recessive, MIM#614409

Louise Daugherty (Genomics England Curator)

Comment on phenotypes: added phenotype from Sarah Leigh (Genomics England), 5 Mar 2018 review
Created: 14 Mar 2018, 11:52 a.m.
Comment on publications: Added publications from Sarah Leigh (Genomics England), 5 Mar 2018 review
Created: 14 Mar 2018, 11:51 a.m.

Helen Brittain (Genomics England Curator)

Comment when marking as ready: Phenotype not a clear fit for this panel on the current evidence.
Created: 6 Mar 2018, 4:52 p.m.
Comment on list classification: I recognise that there are cases with intellectual impairment reported, however all cases reported to date have initially presented with gait disturbance or spasticity in the 1st-2nd decades. Therefore on the current evidence, the best place to capture phenotypes associated with this gene would be the HSP panel. If evidence emerges of a primary ID phenotype (rather than more complex neurological decline) then this can be re-considered.
Created: 6 Mar 2018, 4:51 p.m.
Comment on list classification: I recognise that there are cases with intellectual impairment reported, however all cases reported to date have initially presented with gait disturbance or spasticity in the 1st-2nd decades. Therefore on the current evidence, the best place to capture phenotypes associated with this gene would be the HSP panel. If evidence emerges of a primary ID phenotype (rather than more complex neurological decline) then this can be re-considered.
Created: 6 Mar 2018, 4:51 p.m.

Sarah Leigh (Genomics England Curator)

Comment on phenotypes: Mild to moderate mental retardation reported in some patients and overall cognitive decline generally reported according PMID 23332916
Created: 5 Mar 2018, 11:43 a.m.
Comment when marking as ready: Spastic paraplegia 46, autosomal recessive 614409
Created: 5 Mar 2018, 11:40 a.m.
Associated with phenotype in OMIM and as a confirmed G2P association for Spastic paraplegia 46, autosomal recessive 614409, however, intellectual disability is not a common feature of this phenotype.
Based on report of a variant in two unrelated cases of Marinesco-Sjögren-Like Syndrome (PMID 28052128) in addition to at least three cases of Spastic paraplegia 46, autosomal recessive 614409 that display intellectual disability (PMIDs 23332916;23332917;24252062)
Created: 5 Mar 2018, 11:17 a.m.

Caroline Wright (Sanger)

I don't know

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
AUTOSOMAL-RECESSIVE CEREBELLAR ATAXIA WITH SPASTICITY.

Publications

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_ddg2p_2_4_2017_conf;in_omim_20150205_movement;in_movement_disorder_list . Main mutation mechanism : Loss of function
Created: 27 Jul 2017, 6:10 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; GEL_ID_red_20160217; neuro_20160418_strict; Loss of function. 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, 12:31 p.m.

Mode of inheritance
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 list classification: Not an ID gene
Created: 7 Feb 2016, 8:47 p.m.

History Filter Activity

14 Mar 2018, Gel status: 2

Set publications

Louise Daugherty (Genomics England Curator)

Publications for GBA2 were set to 23332916; 23332917; 24252062; 28052128

14 Mar 2018, Gel status: 2

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for GBA2 were set to Spastic paraplegia 46, autosomal recessive, 614409

14 Mar 2018, Gel status: 2

Set publications

Louise Daugherty (Genomics England Curator)

Publications for GBA2 were set to 23332917; 23332916; 23332917; 24252062; 28052128

12 Mar 2018, Gel status: 2

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.

12 Mar 2018, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

Expert Review Amber was added to GBA2. Panel: Intellectual disability

7 Feb 2016, Gel status: 1

Gene classified by Genomics England curator

Richard Scott (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

7 Feb 2016, Gel status: 1

Gene classified by Genomics England curator

Richard Scott (Genomics England Curator)

This gene has been classified as Red List (Low 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)

GBA2 was created by ellenmcdonagh

13 Nov 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

GBA2 was added to Intellectual disabilitypanel. Sources: Expert Review Amber