Intellectual disability
Gene: HNRNPH1

HNRNPH1 (heterogeneous nuclear ribonucleoprotein H1)
EnsemblGeneIds (GRCh38): ENSG00000169045
EnsemblGeneIds (GRCh37): ENSG00000169045
OMIM: 601035, Gene2Phenotype
HNRNPH1 is in 3 panels

4 reviews

Eleanor Williams (Genomics England Curator)

Removed the gene-checked tag as this gene now has a relevant phenotype associated with it in OMIM.
Created: 21 Nov 2022, 4:39 p.m. | Last Modified: 21 Nov 2022, 4:39 p.m.

Panel Version: 3.1767

Created: 21 Nov 2022, 4:39 p.m.
Last Modified: 21 Nov 2022, 4:39 p.m.
Panel version: 3.1767

Sarah Leigh (Genomics England Curator)

The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Created: 9 Mar 2022, 3:40 p.m. | Last Modified: 9 Mar 2022, 3:40 p.m.

Panel Version: 3.1510

Created: 9 Mar 2022, 3:40 p.m.
Last Modified: 9 Mar 2022, 3:40 p.m.
Panel version: 3.1510

Arina Puzriakova (Genomics England Curator)

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 7 unrelated cases with moderate-severe GDD/ID.
Created: 7 Sep 2020, 1:14 p.m. | Last Modified: 7 Sep 2020, 1:15 p.m.

Panel Version: 3.286

Created: 7 Sep 2020, 1:14 p.m.
Last Modified: 7 Sep 2020, 1:15 p.m.
Panel version: 3.286

Zornitza Stark (Australian Genomics)

Green List (high evidence)

1st patient reported in 2018 with intellectual disability and dysmorphic features and HNRNPH1 heterozygous missense variant. 2020 paper reports additional 7 cases with ID, short stature, microcephaly, distinctive dysmorphic facial features, and congenital anomalies (cranial, brain, genitourinary, palate, ophthalmologic). They all had HNRNPH1 heterozygous pathogenic variants (missense, frameshift, in‐frame deletion, entire gene duplication) and were identified using clinical networks and GeneMatcher.
Sources: Literature
Created: 1 Jul 2020, 9:52 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
HNRNPH1‐related syndromic intellectual disability

Publications

Created: 1 Jul 2020, 9:52 a.m.

Panel version: 3.126

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green

Phenotypes

HNRNPH1‐related syndromic intellectual disability
Neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects, OMIM:620083

OMIM

601035

Clinvar variants

Variants in HNRNPH1

Penetrance

None

Publications

Panels with this gene

History Filter Activity

21 Nov 2022, Gel status: 3

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Phenotypes for gene: HNRNPH1 were changed from HNRNPH1‐related syndromic intellectual disability to HNRNPH1‐related syndromic intellectual disability; Neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects, OMIM:620083

21 Nov 2022, Gel status: 3

Removed Tag

Eleanor Williams (Genomics England Curator)

Tag gene-checked was removed from gene: HNRNPH1.

4 May 2022, Gel status: 3