| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Cerebellar and Pontocerebellar Hypoplasia v1.56 | BICD2 | Zornitza Stark Marked gene: BICD2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebellar and Pontocerebellar Hypoplasia v1.56 | BICD2 | Zornitza Stark Gene: bicd2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebellar and Pontocerebellar Hypoplasia v1.56 | BICD2 | Zornitza Stark Classified gene: BICD2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebellar and Pontocerebellar Hypoplasia v1.56 | BICD2 | Zornitza Stark Gene: bicd2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebellar and Pontocerebellar Hypoplasia v1.55 | BICD2 |
Lucy Spencer changed review comment from: 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 study reviewed previous patients and cerebellar hypoplasia seen in 3 other patients, and hypogenesis of the corpus callosum seen in 5 others but these individuals all had only 1 heterozygous variant, mostly missense. Sources: Literature; to: 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 study reviewed previous patients and cerebellar hypoplasia seen in 3 other patients, and hypogenesis of the corpus callosum seen in 5 others but these individuals all had only 1 heterozygous variant, mostly missense. The patient in this paper appears to be a new mode of inheritance and mechanism associated with AR LOF variants (most previous variants are single heterozygous missense). This patient also appears to be the first report of lissencephaly. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebellar and Pontocerebellar Hypoplasia v1.55 | BICD2 |
Lucy Spencer gene: BICD2 was added gene: BICD2 was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Literature Mode of inheritance for gene: BICD2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: BICD2 were set to 35896821 Phenotypes for gene: BICD2 were set to Neurodevelopmental disorder, BICD2-related (MONDO#0700092) Review for gene: BICD2 was set to GREEN 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 study reviewed previous patients and cerebellar hypoplasia seen in 3 other patients, and hypogenesis of the corpus callosum seen in 5 others but these individuals all had only 1 heterozygous variant, mostly missense. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||