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| Childhood onset dystonia, chorea or related movement disorder v1.265 | HNRNPH1 | Eleanor Williams commented on gene: HNRNPH1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset dystonia, chorea or related movement disorder v1.265 | HNRNPH1 | Eleanor Williams Phenotypes for gene: HNRNPH1 were changed from HNRNPH1-related neurodevelopmental disorder to HNRNPH1-related neurodevelopmental disorder; Neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects, OMIM:620083 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset dystonia, chorea or related movement disorder v1.264 | HNRNPH1 | Eleanor Williams Tag gene-checked was removed from gene: HNRNPH1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset dystonia, chorea or related movement disorder v1.237 | HNRNPH1 | Eleanor Williams Tag gene-checked tag was added to gene: HNRNPH1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset dystonia, chorea or related movement disorder v1.237 | HNRNPH1 | Eleanor Williams Tag for-review was removed from gene: HNRNPH1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset dystonia, chorea or related movement disorder v1.237 | HNRNPH1 | Sarah Leigh commented on gene: HNRNPH1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset dystonia, chorea or related movement disorder v1.236 | HNRNPH1 |
Eleanor Williams Source Expert Review Green was added to HNRNPH1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Childhood onset dystonia, chorea or related movement disorder v1.51 | HNRNPH1 | Arina Puzriakova Tag for-review tag was added to gene: HNRNPH1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset dystonia, chorea or related movement disorder v1.51 | HNRNPH1 | Arina Puzriakova Classified gene: HNRNPH1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset dystonia, chorea or related movement disorder v1.51 | HNRNPH1 | Arina Puzriakova Added comment: Comment on list classification: There is enough evidence to rate this gene GREEN at the next major review - two studies report de novo variants in at least 6 unrelated cases with a movement phenotype. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset dystonia, chorea or related movement disorder v1.51 | HNRNPH1 | Arina Puzriakova Gene: hnrnph1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset dystonia, chorea or related movement disorder v1.50 | HNRNPH1 |
Arina Puzriakova gene: HNRNPH1 was added gene: HNRNPH1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: Literature Mode of inheritance for gene: HNRNPH1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: HNRNPH1 were set to 29938792; 32335897 Phenotypes for gene: HNRNPH1 were set to HNRNPH1-related neurodevelopmental disorder Review for gene: HNRNPH1 was set to GREEN Added comment: Probable gene for HNRNPH1-related neurodevelopmental disorder in G2P, but currently not associated with any phenotype in OMIM (last edited on 21/07/2017). Two studies report de novo variants in 8 unrelated cases with a syndromic intellectual disability disorder. Clinical features included moderate-severe GDD/ID (7/7), abnormalities on brain MRI (8/8), ophthalmological abnormalities (7/8), short stature (6/8), and microcephaly (6/8). Movement manifestations were also observed - 3 individuals were non-ambulatory, while another 3 presented dystonia, one of whom also had ataxia, tremor, and wide‐based gait. Sources: Literature |
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