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Intellectual disability

Gene: HNRNPC

Green List (high evidence)
HNRNPC (heterogeneous nuclear ribonucleoprotein C (C1/C2))
EnsemblGeneIds (GRCh38): ENSG00000092199
EnsemblGeneIds (GRCh37): ENSG00000092199
OMIM: 164020, Gene2Phenotype
HNRNPC is in 2 panels

2 reviews

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
Created: 12 Mar 2026, 1:33 p.m. | Last Modified: 12 Mar 2026, 1:33 p.m.
Panel Version: 9.299
Created: 12 Mar 2026, 1:33 p.m.
Last Modified: 12 Mar 2026, 1:33 p.m.
Panel version: 9.299

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

Comment on list classification: There is sufficient evidence available (14 unrelated cases) for the promotion of this gene to green rating in the next GMS update.
Created: 25 Mar 2025, 12:26 p.m. | Last Modified: 25 Mar 2025, 12:26 p.m.
Panel Version: 8.199
Comment on publications: PMID:40004505 was identified by the Genomics England Applied Machine Learning (ML) team in a Biocuration-ML project for identifying new gene-disease associations using Natural Language Processing (NLP) and Generative AI techniques.
Created: 25 Mar 2025, 12:25 p.m. | Last Modified: 25 Mar 2025, 12:25 p.m.
Panel Version: 8.198
PMID:37541189 reported a cohort of 13 individuals with heterozygous germline variants in HNRNPC gene, including a recurrent de novo in-frame deletion in five individuals (c.850_876del/ p.(Arg284_Asp292del) for HNRNPC-iso1 and c.889_915del/ p.(Arg297_Asp305del) for HNRNPC-iso2). They all presented with a neurodevelopmental disorder characterised by global developmental delay, intellectual disability, behavioural abnormalities, and subtle facial dysmorphic features in most individuals.

PMID:40004505 reported the identification of the missense variant, p.(Arg99Gln) in a patient showing a unique clinical presentation characterised by DD/ID, distinctive facial features, cochlear aplasia, and bilateral colobomatous microphthalmia. This variant was previously reported in an individual in PMID:37541189. The clinical phenotype of this individual fit that of the previously described individual with the same variant, and only partially overlaps with the clinical spectrum of the disease.

This gene has already been associated with relevant phenotypes in OMIM (MIM #620688), but not yet in Gene2Phenotype.
Sources: Literature
Created: 25 Mar 2025, 12:24 p.m. | Last Modified: 15 Aug 2025, 2:44 p.m.
Panel Version: 9.64

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Intellectual developmental disorder, autosomal dominant 74, OMIM:620688

Publications

Created: 25 Mar 2025, 12:24 p.m.
Last Modified: 15 Aug 2025, 2:44 p.m.
Panel version: 8.197

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
  • Literature
Phenotypes
  • Intellectual developmental disorder, autosomal dominant 74, OMIM:620688
OMIM
164020
Clinvar variants
Variants in HNRNPC
Penetrance
None
Publications
Panels with this gene

History Filter Activity

12 Mar 2026, Gel status: 3

Removed Tag

Arina Puzriakova (Genomics England Curator)

Tag Q1_25_ promote_green was removed from gene: HNRNPC.

12 Mar 2026, Gel status: 3

Added New Source, Added New Source, Status Update

Arina Puzriakova (Genomics England Curator)

Source NHS GMS was added to HNRNPC. Source Expert Review Green was added to HNRNPC. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

25 Mar 2025, Gel status: 2

Entity classified by Genomics England curator

Achchuthan Shanmugasundram (Genomics England Curator)

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

25 Mar 2025, Gel status: 1

Set publications

Achchuthan Shanmugasundram (Genomics England Curator)

Publications for gene: HNRNPC were set to 37541189; 40004505

25 Mar 2025, Gel status: 1

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: HNRNPC was added gene: HNRNPC was added to Intellectual disability. Sources: Literature Q1_25_ promote_green tags were added to gene: HNRNPC. Mode of inheritance for gene: HNRNPC was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: HNRNPC were set to 37541189; 40004505 Phenotypes for gene: HNRNPC were set to Intellectual developmental disorder, autosomal dominant 74, OMIM:620688 Review for gene: HNRNPC was set to GREEN