Submission Details

MAP1B was first reported in relation to autosomal dominant periventricular nodular heterotopia (PVNH) in 2018 (29738522: Heinzen et al. 2018). At least eight unique loss of function variants have been reported. Evidence supporting this gene-disease relationship includes case-level data, segregation data, and experimental data. Variants in this gene have been reported in eight probands from three publications (29738522: Heinzen et al. 2018; 30150678: Walters et al. 2018; 31317654: Julca et al. 2019). Variants in this gene segregated with disease in three families, although clinical presentation was variable even within families. Reduced penetrance was noted. The mechanism for disease is heterozygous loss of function variants. This gene-disease relationship is supported by expression studies and an animal model (8577753: Edelmann et al. 1996). In summary, there is strong evidence to support the relationship between MAP1B and periventricular nodular heterotopia (autosomal dominant). Three years must elapse from the first proposal of the association to reach a definitive classification.

PubMed IDs:

29738522 30150678 8577753 31317654

Assertion Criteria:

Click here to view assertion criteria

https://www.clinicalgenome.org/site/assets/files/3975/gene-disease_validity_standard_operating_procedures_version_7-1.pdf

Submitter Submitted Date:

10/15/2020

The GenCC data are available free of restriction under a CC0 1.0 Universal (CC0 1.0) Public Domain Dedication. The GenCC requests that you give attribution to GenCC and the contributing sources whenever possible and appropriate. The accepted Flagship manuscript is now available from Genetics in Medicine (https://www.gimjournal.org/article/S1098-3600(22)00746-8/fulltext).

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