Genes in panel

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 6 panels

1 review

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

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
Phenotypes
  • Axonal type CMT disease type 2Z, 616688
OMIM
616661
Clinvar variants
Variants in MORC2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

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