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Intellectual disability

Gene: HNRNPH1

Amber List (moderate evidence)

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

2 reviews

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

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

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
Phenotypes
  • HNRNPH1‐related syndromic intellectual disability
Tags
for-review
OMIM
601035
Clinvar variants
Variants in HNRNPH1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

7 Sep 2020, Gel status: 2

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag for-review tag was added to gene: HNRNPH1.

7 Sep 2020, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: hnrnph1 has been classified as Amber List (Moderate Evidence).

1 Jul 2020, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Australian Genomics)

gene: HNRNPH1 was added gene: HNRNPH1 was added to Intellectual disability. Sources: Literature Mode of inheritance for gene: HNRNPH1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: HNRNPH1 were set to 32335897; 29938792 Phenotypes for gene: HNRNPH1 were set to HNRNPH1‐related syndromic intellectual disability Review for gene: HNRNPH1 was set to GREEN