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  3. ABHD12
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Hereditary neuropathy or pain disorder

Gene: ABHD12

Green List (high evidence)
ABHD12 (abhydrolase domain containing 12)
EnsemblGeneIds (GRCh38): ENSG00000100997
EnsemblGeneIds (GRCh37): ENSG00000100997
OMIM: 613599, Gene2Phenotype
ABHD12 is in 15 panels

4 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
Created: 26 Sep 2024, 1:11 p.m. | Last Modified: 26 Sep 2024, 1:11 p.m.
Panel Version: 5.16

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 26 Sep 2024, 1:11 p.m.
Last Modified: 26 Sep 2024, 1:11 p.m.
Panel version: 5.16

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

At least seven ABHD12 variants have been reported in six cases of OMIM:612674. This gene should be green on this panel, as the panel scope now includes complex phenotypes.
Created: 13 May 2024, 8:57 a.m. | Last Modified: 13 May 2024, 8:57 a.m.
Panel Version: 4.11

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract, OMIM:612674

Publications

Created: 13 May 2024, 8:57 a.m.
Last Modified: 13 May 2024, 8:57 a.m.
Panel version: 4.11

Louise Daugherty (Genomics England Curator)

I don't know

This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
Created: 6 Dec 2019, 1:28 p.m. | Last Modified: 6 Dec 2019, 1:28 p.m.
Panel Version: 0.21
Gene rated Amber : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Extension of panel scope - syndrome with non-neurological features / Polyneuropathy with SNCV (slow nerve conduction velocity?), sensorineuronal hearing loss, retinitis pigmentosa, spastic paraplegia, ataxia
Created: 4 Dec 2019, 3:02 p.m. | Last Modified: 6 Dec 2019, 1:29 p.m.
Panel Version: 0.21
Review and rating uploaded from file (Curation_Template_GMS_Neuro_AR_20190521.xlsx) submitted by Alex Rossor (UCL Institute of Neurology) on behalf of London North GLH for GMS Neurology specialist test group.
Created: 11 Jun 2019, 1:40 p.m.
Created: 11 Jun 2019, 1:40 p.m.
Last Modified: 6 Dec 2019, 1:29 p.m.
Panel version: 0.23

Alexander Rossor (UCL Institute of Neurology)

Green List (high evidence)

should be included in R78 panel as panel now includes complex phenotypes e.g. ACOX1, HEXA, HEXB, MCM3AP, MORC2, PIGB, POLR3B, SLC25A46
Created: 17 Mar 2024, 9:06 p.m. | Last Modified: 17 Mar 2024, 9:06 p.m.
Panel Version: 3.83

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Onset 2nd decade, neuropathy with SNCV, sensory neuronal hearing loss, retinitis pigmentosa, spastic paraplegia, ataxia

Publications

Created: 6 Jun 2019, 10:52 a.m.

Panel version: 3.83

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
  • NHS GMS
  • London North GLH
Phenotypes
  • Neurodegeneration, childhood-onset, with cerebellar atrophy,612674
  • Onset 2nd decade, neuropathy with SNCV, sensory neuronal hearing loss, retinitis pigmentosa, spastic paraplegia, ataxia
OMIM
613599
Clinvar variants
Variants in ABHD12
Penetrance
None
Publications
Panels with this gene

History Filter Activity

26 Sep 2024, Gel status: 3

Removed Tag, Removed Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q2_24_promote_green was removed from gene: ABHD12. Tag Q2_24_NHS_review was removed from gene: ABHD12.

26 Sep 2024, Gel status: 3

Added New Source, Status Update

Achchuthan Shanmugasundram (Genomics England Curator)

Source Expert Review Green was added to ABHD12. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

13 May 2024, Gel status: 2

Added Tag, Added Tag

Sarah Leigh (Genomics England Curator)

Tag Q2_24_promote_green tag was added to gene: ABHD12. Tag Q2_24_NHS_review tag was added to gene: ABHD12.

6 Dec 2019, Gel status: 2

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: abhd12 has been classified as Amber List (Moderate Evidence).

5 Dec 2019, Gel status: 1

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

Ellen McDonagh (Genomics England Curator)

gene: ABHD12 was added gene: ABHD12 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH Mode of inheritance for gene: ABHD12 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ABHD12 were set to 20797687; 29571850 Phenotypes for gene: ABHD12 were set to Neurodegeneration, childhood-onset, with cerebellar atrophy,612674; Onset 2nd decade, neuropathy with SNCV, sensory neuronal hearing loss, retinitis pigmentosa, spastic paraplegia, ataxia