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| Cerebellar hypoplasia v1.33 | MACF1 | Rebecca Foulger Added comment: Comment on mode of pathogenicity: Updated Mode of pathogenicity to match the 'Intellectual disability' and 'Genetic epilepsy syndromes' panels. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebellar hypoplasia v1.33 | MACF1 | Rebecca Foulger 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebellar hypoplasia v1.32 | MACF1 | Rebecca Foulger Classified gene: MACF1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebellar hypoplasia v1.32 | MACF1 | Rebecca Foulger Added comment: Comment on list classification: Green rating agreed by Helen Brittain based on multiple unrelated cases in PMID:30471716. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebellar hypoplasia v1.32 | MACF1 | Rebecca Foulger Gene: macf1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebellar hypoplasia v1.31 | MACF1 |
Rebecca Foulger 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 Added comment: 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 |
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