Childhood onset dystonia, chorea or related movement disorder

Gene: HNRNPH1

Removed 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

Green List (high evidence)

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: Literature

Created: 7 Sep 2020, 1:44 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
HNRNPH1-related neurodevelopmental disorder

Publications

• 29938792
• 32335897