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  2. Cerebellar and Pontocerebellar Hypoplasia
  3. MACF1
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Cerebellar and Pontocerebellar 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

Crystle Lee (Victorian Clinical Genetics Services)

Green List (high evidence)

Pontine/Vermis hypoplasia reported in multiple patients with de novo missense variants within the GAR domain

PMID: 30471716; Dobyns 2018: Reported 3 different missense in 7 patients. All reported with brainsteam/cerebellum hypoplasia (Pontine hypoplasia/ Vermis hypoplasia). Postulated to exert Gain of function or dominant negative mechanism

Green in PanelApp UK list
Sources: Expert Review
Created: 29 Apr 2020, 3:30 a.m.

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

Phenotypes
Lissencephaly 9 with complex brainstem malformation (MIM#618325)

Publications

Mode of pathogenicity
Other

Created: 29 Apr 2020, 3:30 a.m.

Panel version: 0.113

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • Lissencephaly 9 with complex brainstem malformation (MIM#618325)
OMIM
608271
Clinvar variants
Variants in MACF1
Penetrance
None
Publications
Mode of Pathogenicity
Other
Panels with this gene

History Filter Activity

29 Apr 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

29 Apr 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

29 Apr 2020, Gel status: 0

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

Crystle Lee (Victorian Clinical Genetics Services)

gene: MACF1 was added gene: MACF1 was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Expert Review 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 (MIM#618325) Mode of pathogenicity for gene: MACF1 was set to Other Review for gene: MACF1 was set to GREEN