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Mitochondrial disease

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 10 panels

3 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Comment when marking as ready: Phenotypic overlap.
Created: 27 Apr 2021, 9:02 a.m. | Last Modified: 27 Apr 2021, 9:02 a.m.
Panel Version: 0.605
Created: 27 Apr 2021, 9:02 a.m.
Last Modified: 27 Apr 2021, 9:02 a.m.
Panel version: 0.605

Naomi Baker (Victorian Clinical Genetics Services)

Green List (high evidence)

Five of eighteen individuals for whom brain imaging was available had lesions reminiscent of those observed in Leigh syndrome.
Sources: Literature
Created: 27 Apr 2021, 6:51 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy, MIM# 619090; Charcot-Marie-Tooth disease, axonal, type 2Z, MIM# 616688.

Publications

Created: 27 Apr 2021, 6:51 a.m.

Panel version: 0.604

Dean Phelan (Victorian Clinical Genetics Services)

Red List (low evidence)

PMID: 32693025 - Reported in one 5 year old girl with spinal muscular atrophy (SMA) - like disease with neuropathy, cerebellar atrophy, and diaphragmatic paralysis (not CMT). This observation broadens the phenotypical spectrum of MORC2-related disorders towards SMA, spinal muscular atrophy with respiratory distress type 1 (SMARD1), and pontocerebellar hypoplasia.

Literature search - no additional evidence of association with SMA. Rated the gene as red for SMA.
Created: 3 Aug 2020, 6:22 a.m. | Last Modified: 3 Aug 2020, 6:22 a.m.
Panel Version: 0.3657

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Spinal muscular atrophy

Publications

Created: 3 Aug 2020, 6:22 a.m.
Last Modified: 3 Aug 2020, 6:22 a.m.
Panel version: Imported from Mendeliome panel version 0.3657

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy, MIM# 619090
  • Charcot-Marie-Tooth disease, axonal, type 2Z, MIM# 616688.
OMIM
616661
Clinvar variants
Variants in MORC2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

27 Apr 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

27 Apr 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

27 Apr 2021, Gel status: 0

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

Naomi Baker (Victorian Clinical Genetics Services)

gene: MORC2 was added gene: MORC2 was added to Mitochondrial disease. Sources: Literature Mode of inheritance for gene: MORC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: MORC2 were set to PMID: 32693025 Phenotypes for gene: MORC2 were set to Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy, MIM# 619090; Charcot-Marie-Tooth disease, axonal, type 2Z, MIM# 616688. Review for gene: MORC2 was set to GREEN