| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Dystonia and Chorea v1.9 | PCDHGB1 | Zornitza Stark commented on gene: PCDHGB1: Over 50 individuals reported as part of a cohort study. However, only 6 of the variants are absent from gnomAD. Others are present at low frequencies and are over-represented in the dystonia cohort. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia and Chorea v1.9 | PCDHGB1 | Zornitza Stark Marked gene: PCDHGB1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia and Chorea v1.9 | PCDHGB1 | Zornitza Stark Gene: pcdhgb1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia and Chorea v1.9 | PCDHGB1 | Zornitza Stark Phenotypes for gene: PCDHGB1 were changed from Dystonia (HP:0001332); Cervical dystonia (HP:0002481); Blepharospasm (HP:0000617); Oromandibular dystonia (HP:0007291); Laryngeal dystonia (HP:0001593); Focal dystonia (HP:0002515); Segmental dystonia (HP:0007328); Generalized dystonia (HP:0007329); Myoclonus (HP:0001336); Parkinsonism (HP:0001300); Ataxia (HP:0001251); External ophthalmoplegia (HP:0000605); Sensorineural hearing impairment (HP:0000407); Abnormal gait (HP:0001288); Tremor (HP:0001337); Adult onset (HP:0003581); Childhood onset (HP:0011463); Family history of dystonia (HP:0032371); Autosomal dominant inheritance (HP:0000006) to Inherited dystonia, MONDO:0044807, PCDHGB1-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia and Chorea v1.8 | PCDHGB1 | Zornitza Stark Classified gene: PCDHGB1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia and Chorea v1.8 | PCDHGB1 | Zornitza Stark Gene: pcdhgb1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia and Chorea v1.7 | PCDHGB1 | Zornitza Stark reviewed gene: PCDHGB1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Inherited dystonia, MONDO:0044807, PCDHGB1-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia and Chorea v1.5 | PCDHGB1 |
Shekeeb S gene: PCDHGB1 was added gene: PCDHGB1 was added to Dystonia and Chorea. Sources: Literature Mode of inheritance for gene: PCDHGB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PCDHGB1 were set to 42482420; 35229923 Phenotypes for gene: PCDHGB1 were set to Dystonia (HP:0001332); Cervical dystonia (HP:0002481); Blepharospasm (HP:0000617); Oromandibular dystonia (HP:0007291); Laryngeal dystonia (HP:0001593); Focal dystonia (HP:0002515); Segmental dystonia (HP:0007328); Generalized dystonia (HP:0007329); Myoclonus (HP:0001336); Parkinsonism (HP:0001300); Ataxia (HP:0001251); External ophthalmoplegia (HP:0000605); Sensorineural hearing impairment (HP:0000407); Abnormal gait (HP:0001288); Tremor (HP:0001337); Adult onset (HP:0003581); Childhood onset (HP:0011463); Family history of dystonia (HP:0032371); Autosomal dominant inheritance (HP:0000006) Penetrance for gene: PCDHGB1 were set to unknown Review for gene: PCDHGB1 was set to GREEN gene: PCDHGB1 was marked as current diagnostic Added comment: Sources: Literature |
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