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Severe Paediatric Disorders

Gene: HNRNPH1

Green List (high evidence)

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

1 review

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: HNRNPH1; Recommended initial gene rating: Green List (high evidence); Phenotypes: Mental retardation, X-linked, syndromic, Bain type, 300986 (3); Mode of inheritance: Autosomal dominant
Created: 20 Feb 2020, 5:20 p.m. | Last Modified: 20 Feb 2020, 5:20 p.m.
Panel Version: 0.12

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • HNRNPH1-related neurodevelopmental disorder
OMIM
601035
Clinvar variants
Variants in HNRNPH1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

8 Sep 2020, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: HNRNPH1 were changed from Mental retardation, X-linked, syndromic, Bain type, 300986 to HNRNPH1-related neurodevelopmental disorder

21 Feb 2020, Gel status: 3

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene HNRNPH1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

20 Feb 2020, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene HNRNPH1 were updated from to 30847515

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Mental retardation, X-linked, syndromic, Bain type, 300986 for gene: HNRNPH1

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Mental retardation, X-linked, syndromic, Bain type, 300986 for gene: HNRNPH1

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Mental retardation, X-linked, syndromic, Bain type, 300986 for gene: HNRNPH1

19 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Mental retardation, X-linked, syndromic, Bain type, 300986 for gene: HNRNPH1

14 Feb 2020, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source Next Generation Children Project was added to HNRNPH1.

14 Feb 2020, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Green was added to HNRNPH1. Rating Changed from Red List (low evidence) to Green List (high evidence)

14 Feb 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: HNRNPH1 was added gene: HNRNPH1 was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: HNRNPH1 was set to