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Intellectual disability syndromic and non-syndromic

Gene: HNRNPH1

Green List (high evidence)

HNRNPH1 (heterogeneous nuclear ribonucleoprotein H1)
EnsemblGeneIds (GRCh38): ENSG00000169045
EnsemblGeneIds (GRCh37): ENSG00000169045
OMIM: 601035, Gene2Phenotype
HNRNPH1 is in 2 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects, MIM# 620083

Chirag Patel (Genetic Health Queensland)

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. No comments in paper if all de novo.
Sources: Literature
Created: 1 Jul 2020, 6:18 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 Green
  • Literature
Phenotypes
  • Neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects, MIM# 620083
OMIM
601035
Clinvar variants
Variants in HNRNPH1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

23 Oct 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

1 Jul 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: hnrnph1 has been classified as Green List (High Evidence).

1 Jul 2020, Gel status: 3

Entity classified by Genomics England curator

Chirag Patel (Genetic Health Queensland)

Gene: hnrnph1 has been classified as Green List (High Evidence).

1 Jul 2020, Gel status: 1

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

Chirag Patel (Genetic Health Queensland)

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