Severe microcephaly
Gene: MORC2EnsemblGeneIds (GRCh38): ENSG00000133422
EnsemblGeneIds (GRCh37): ENSG00000133422
OMIM: 616661, Gene2Phenotype
MORC2 is in 9 panels
2 reviews
Sarah Leigh (Genomics England Curator)
The rating of this gene has been updated following NHS Genomic Medicine Service approval.Created: 10 Mar 2022, 10:52 a.m. | Last Modified: 10 Mar 2022, 10:52 a.m.
Panel Version: 2.282
Arina Puzriakova (Genomics England Curator)
Comment on phenotypes: OMIM phenotype accessed on 03-02-2026Created: 3 Feb 2026, 10:44 a.m. | Last Modified: 3 Feb 2026, 10:44 a.m.
Panel Version: 8.31
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: LiteratureCreated: 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 Green
- Literature
- 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
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: MORC2 were changed from Developmental delay; Intellectual disability; Growth retardation; Microcephaly; Craniofacial dysmorphism; 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
Removed Tag
Eleanor Williams (Genomics England Curator)Tag for-review was removed from gene: MORC2.
Added New Source, Status Update
Eleanor Williams (Genomics England Curator)Source Expert Review Green was added to MORC2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Entity classified by Genomics England curator
Arina Puzriakova (Genomics England Curator)Gene: morc2 has been classified as Amber List (Moderate Evidence).
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