Cerebellar hypoplasiaGene: MACF1
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.
Created: 12 Mar 2019, 12:11 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Lissencephaly 9 with complex brainstem malformation, 618325
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
Gene: macf1 has been classified as Green List (High Evidence).
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