Cerebral Palsy
Gene: MACF1EnsemblGeneIds (GRCh38): ENSG00000127603
EnsemblGeneIds (GRCh37): ENSG00000127603
OMIM: 608271, Gene2Phenotype
MACF1 is in 7 panels
1 review
Clare van Eyk (University of Adelaide)
1 individual with mono-allelic LP missense variant and cerebral palsy reported in large-scale exome sequencing study. Detailed clinical information not provided. Spasticity and involuntary movements described in some cases.
Sources: LiteratureCreated: 27 May 2024, 6:46 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Lissencephaly 9 with complex brainstem malformation, MIM#618325
Publications
- PMID: 38693247
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Red
- Phenotypes
-
- Lissencephaly 9 with complex brainstem malformation, MIM#618325
- OMIM
- 608271
- Clinvar variants
- Variants in MACF1
- Penetrance
- None
- Publications
-
- PMID: 38693247
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: macf1 has been classified as Red List (Low Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: macf1 has been classified as Red List (Low Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Clare van Eyk (University of Adelaide)gene: MACF1 was added gene: MACF1 was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: MACF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: MACF1 were set to PMID: 38693247 Phenotypes for gene: MACF1 were set to Lissencephaly 9 with complex brainstem malformation, MIM#618325 Review for gene: MACF1 was set to AMBER