Childhood onset dystonia, chorea or related movement disorder
Gene: HNRNPH1Removed the gene-checked tag as this gene now has a relevant phenotype associated with it in OMIM.Created: 21 Nov 2022, 4:40 p.m. | Last Modified: 21 Nov 2022, 4:40 p.m.
Panel Version: 1.265
The rating of this gene has been updated following NHS Genomic Medicine Service approval.Created: 19 Jun 2022, 11:23 p.m. | Last Modified: 19 Jun 2022, 11:23 p.m.
Panel Version: 1.237
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.Created: 7 Sep 2020, 1:45 p.m. | Last Modified: 7 Sep 2020, 1:45 p.m.
Panel Version: 1.51
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: LiteratureCreated: 7 Sep 2020, 1:44 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
HNRNPH1-related neurodevelopmental disorder
Publications
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
Tag gene-checked was removed from gene: HNRNPH1.
Tag gene-checked tag was added to gene: HNRNPH1.
Tag for-review was removed from gene: HNRNPH1.
Source Expert Review Green was added to HNRNPH1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Tag for-review tag was added to gene: HNRNPH1.
Gene: hnrnph1 has been classified as Amber List (Moderate Evidence).
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