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| Severe microcephaly v2.293 | PCDH12 | Eleanor Williams Tag Q3_21_rating was removed from gene: PCDH12. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v2.292 | PCDH12 | Sarah Leigh commented on gene: PCDH12 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v2.291 | PCDH12 |
Eleanor Williams Source Expert Review Green was added to PCDH12. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Severe microcephaly v2.231 | PCDH12 | Ivone Leong Classified gene: PCDH12 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v2.231 | PCDH12 | Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be rated Green at the next review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v2.231 | PCDH12 | Ivone Leong Gene: pcdh12 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v2.230 | PCDH12 | Ivone Leong Tag Q3_21_rating tag was added to gene: PCDH12. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v2.230 | PCDH12 | Ivone Leong Phenotypes for gene: PCDH12 were changed from Diencephalic-mesencephalic junction dysplasia syndrome 1, MIM# 251280 to Diencephalic-mesencephalic junction dysplasia syndrome 1, OMIM:251280 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v2.20 | PCDH12 |
Zornitza Stark gene: PCDH12 was added gene: PCDH12 was added to Severe microcephaly. Sources: Expert list Mode of inheritance for gene: PCDH12 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PCDH12 were set to 27164683; 22822038; 30178464 Phenotypes for gene: PCDH12 were set to Diencephalic-mesencephalic junction dysplasia syndrome 1, MIM# 251280 Review for gene: PCDH12 was set to GREEN Added comment: Diencephalic-mesencephalic junction dysplasia syndrome-1 (DMJDS1) is an autosomal recessive neurodevelopmental disorder characterized by progressive microcephaly, severely delayed or even absent psychomotor development with profound intellectual disability, and spasticity or dystonia. Some patients may have seizures and/or visual impairment. Brain imaging shows a characteristic developmental malformation of the midbrain; subtle intracranial calcifications may also be present. At least 12 families reported. Sources: Expert list |
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