Genes in panel
STRs in panel
Prev Next

Severe microcephaly

Gene: MORC2

Amber List (moderate evidence)

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

1 review

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

Comment on list classification: Though signs suggestive of neuropathy were observed in the cohort presented by Sacoto et al (PMID:32693025), these were not the predominant feature of the disease presentation or the primary indication for diagnostic testing. Inclusion on this panel would be of value for detecting such cases, and so this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Created: 8 Dec 2020, 3:58 p.m. | Last Modified: 8 Dec 2020, 3:58 p.m.
Panel Version: 2.51
MORC2 variants have commonly been associated with CMT, presenting axonal neuropathy with progressive weakness, muscle cramps and sensory impairment. However, Sacoto et al (2020) (PMID: 32693025) present a cohort of 20 individuals (19 kindreds) with a neurodevelopmental disorder characterised by DD, ID (18/20 - mild to severe), short stature (18/20), microcephaly (15/20) and variable craniofacial dysmorphisms. Severity of microcephaly relevant to this panel (≥ 3 SD) was observed in 7 subjects.
Sources: Literature
Created: 8 Dec 2020, 3:51 p.m.

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

Phenotypes
Developmental delay; Intellectual disability; Growth retardation; Microcephaly; Craniofacial dysmorphism; Charcot-Marie-Tooth disease, axonal, type 2Z, OMIM:616688

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Developmental delay
  • Intellectual disability
  • Growth retardation
  • Microcephaly
  • Craniofacial dysmorphism
  • Charcot-Marie-Tooth disease, axonal, type 2Z, OMIM:616688
Tags
for-review
OMIM
616661
Clinvar variants
Variants in MORC2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

8 Dec 2020, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: morc2 has been classified as Amber List (Moderate Evidence).

8 Dec 2020, Gel status: 1

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

Arina Puzriakova (Genomics England Curator)

gene: MORC2 was added gene: MORC2 was added to Severe microcephaly. Sources: Literature for-review tags were added to gene: MORC2. Mode of inheritance for gene: MORC2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: MORC2 were set to 32693025 Phenotypes for gene: MORC2 were set to Developmental delay; Intellectual disability; Growth retardation; Microcephaly; Craniofacial dysmorphism; Charcot-Marie-Tooth disease, axonal, type 2Z, OMIM:616688 Review for gene: MORC2 was set to GREEN