1. Panels
  2. Hereditary Neuropathy - complex
  3. MORC2
Regions in panel
Prev Next

Hereditary Neuropathy - complex

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Reported in 5 families with isolated CMT. Recent cohort of 20 individuals with more complex neurodevelopmental phenotype comprising DD, ID (18/20 - mild to severe), short stature (18/20), microcephaly (15/20) and variable craniofacial dysmorphisms. Features suggestive of neuropathy (weakness, hyporeflexia, abnormal EMG/NCS) were frequent but not the predominant complaint. EMG/NCS abnormalities were abnormal in 6 out of 10 subjects investigated in this cohort. Other findings included brain MRI abnormalities (12/18 - in 5/18 Leigh-like lesions), hearing loss (11/19) and pigmentary retinopathy in few (5).
Sources: Literature
Created: 16 Jan 2021, 12:12 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy, MIM# 619090

Publications

Created: 16 Jan 2021, 12:12 a.m.

Panel version: 0.100

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy, MIM# 619090
OMIM
616661
Clinvar variants
Variants in MORC2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

16 Jan 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).

16 Jan 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).

16 Jan 2021, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: MORC2 was added gene: MORC2 was added to Hereditary Neuropathy - complex. Sources: Literature Mode of inheritance for gene: MORC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: MORC2 were set to 32693025; 26497905; 26659848 Phenotypes for gene: MORC2 were set to Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy, MIM# 619090 Review for gene: MORC2 was set to GREEN