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  2. Ataxia and cerebellar anomalies - narrow panel
  3. MORC2
Genes in panel
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Ataxia and cerebellar anomalies - narrow panel

Gene: MORC2

Green List (high evidence)
MORC2 (MORC family CW-type zinc finger 2)
EnsemblGeneIds (GRCh38): ENSG00000133422
EnsemblGeneIds (GRCh37): ENSG00000133422
OMIM: 616661, Gene2Phenotype
MORC2 is in 9 panels

2 reviews

Arina Puzriakova (Genomics England Curator)

Comment on phenotypes: OMIM phenotype accessed on 03-02-2026
Created: 3 Feb 2026, 10:40 a.m. | Last Modified: 3 Feb 2026, 10:40 a.m.
Panel Version: 8.54
Created: 3 Feb 2026, 10:40 a.m.
Last Modified: 3 Feb 2026, 10:40 a.m.
Panel version: 8.54

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

Thr362Arg variant has been reported as a de novo event in early onset cerebellar ataxia in two different families. As discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this gene Green on the childhood panel during the call discussing MORC2 on R52 Hereditary ataxia - adult onset https://panelapp.genomicsengland.co.uk/panels/466/ (where is was decided to rate as Amber)
Sources: Expert list
Created: 1 Aug 2019, 3:32 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Axonal type CMT disease type 2Z, 616688

Publications

Created: 1 Aug 2019, 3:32 p.m.

Panel version: 1.5

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Charcot-Marie-Tooth disease, axonal, type 2Z, OMIM:616688
  • Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy, OMIM:619090
OMIM
616661
Clinvar variants
Variants in MORC2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 Feb 2026, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: MORC2 were changed from Charcot-Marie-Tooth disease, axonal, type 2Z, OMIM:616688 to Charcot-Marie-Tooth disease, axonal, type 2Z, OMIM:616688; Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy, OMIM:619090

3 Feb 2026, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: MORC2 were changed from Axonal type CMT disease type 2Z, 616688 to Charcot-Marie-Tooth disease, axonal, type 2Z, OMIM:616688

1 Aug 2019, Gel status: 3

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: morc2 has been classified as Green List (High Evidence).

1 Aug 2019, Gel status: 1

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

Louise Daugherty (Genomics England Curator)

gene: MORC2 was added gene: MORC2 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert list Mode of inheritance for gene: MORC2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: MORC2 were set to 28402445; 27794525 Phenotypes for gene: MORC2 were set to Axonal type CMT disease type 2Z, 616688 Review for gene: MORC2 was set to GREEN