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Cerebellar hypoplasia

Gene: MACF1

Green List (high evidence)
MACF1 (microtubule-actin crosslinking factor 1)
EnsemblGeneIds (GRCh38): ENSG00000127603
EnsemblGeneIds (GRCh37): ENSG00000127603
OMIM: 608271, Gene2Phenotype
MACF1 is in 7 panels

1 review

Rebecca Foulger (Genomics England curator)

Comment on mode of pathogenicity: Updated Mode of pathogenicity to match the 'Intellectual disability' and 'Genetic epilepsy syndromes' panels.
Created: 12 Mar 2019, 12:14 p.m.
Comment on list classification: Green rating agreed by Helen Brittain based on multiple unrelated cases in PMID:30471716.
Created: 12 Mar 2019, 12:12 p.m.
Added MACF1 to 'Cerebellar hypoplasia' panel on advice from Helen Brittain after MACF1 was reviewed by Sarah Leigh on the 'Genetic Epilepsy Syndromes' and 'Intellectual disability' panels. PMID:30471716 (Dobyns et al 2018) recognized a complex brainstem malformation in three unrelated children with MACF1 variants. They searched their large brain-malformation databases and found another five children with this malformation (as well as one with a less severe variant). The brain malformation comprised posterior predominant lissencephaly and midline crossing defects consisting of absent anterior commissure and a striking W-shaped brainstem malformation caused by small or absent pontine crossing fibers.
Sources: Literature
Created: 12 Mar 2019, 12:11 p.m.

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

Phenotypes
Lissencephaly 9 with complex brainstem malformation, 618325

Publications

Created: 12 Mar 2019, 12:11 p.m.

Panel version: 1.31

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Lissencephaly 9 with complex brainstem malformation, 618325
OMIM
608271
Clinvar variants
Variants in MACF1
Penetrance
None
Publications
Mode of Pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Panels with this gene

History Filter Activity

12 Mar 2019, Gel status: 3

Set mode of pathogenicity

Rebecca Foulger (Genomics England curator)

Mode of pathogenicity for gene: MACF1 was changed from None to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

12 Mar 2019, Gel status: 3

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

Gene: macf1 has been classified as Green List (High Evidence).

12 Mar 2019, Gel status: 1

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

Rebecca Foulger (Genomics England curator)

gene: MACF1 was added gene: MACF1 was added to Cerebellar hypoplasia. Sources: Literature Mode of inheritance for gene: MACF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: MACF1 were set to 30471716 Phenotypes for gene: MACF1 were set to Lissencephaly 9 with complex brainstem malformation, 618325