| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Lissencephaly and Band Heterotopia v1.10 | BICD2 | Zornitza Stark Marked gene: BICD2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lissencephaly and Band Heterotopia v1.10 | BICD2 | Zornitza Stark Gene: bicd2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lissencephaly and Band Heterotopia v1.10 | BICD2 | Zornitza Stark Classified gene: BICD2 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lissencephaly and Band Heterotopia v1.10 | BICD2 | Zornitza Stark Gene: bicd2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lissencephaly and Band Heterotopia v1.9 | BICD2 |
Lucy Spencer gene: BICD2 was added gene: BICD2 was added to Lissencephaly and Band Heterotopia. Sources: Literature Mode of inheritance for gene: BICD2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: BICD2 were set to 35896821 Phenotypes for gene: BICD2 were set to Neurodevelopmental disorder (MONDO#0700092), BICD2-related Review for gene: BICD2 was set to RED Added comment: Child with developmental delay, microcephaly, dysmorphic facial features, optic atrophy, lissencephaly, hypogenesis of the corpus callosum and cerebellar hypoplasia. Also short stature and underweight. Found to have a homozygous NMD predicted stop gain variant (consanguineous parents). This paper reviews previous patients and found others with brain abnormalities including cerebellar hypoplasia but it looks like lissencephaly is a new phenotype in this individual associated with AR LOF variants (most previous variants are single heterozygous missense). Sources: Literature |
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