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Research panel - Severe Paediatric Disorders

Gene: SETD1B

Green List (high evidence)
SETD1B (SET domain containing 1B)
EnsemblGeneIds (GRCh38): ENSG00000139718
EnsemblGeneIds (GRCh37): ENSG00000139718
OMIM: 611055, Gene2Phenotype
SETD1B 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: SETD1B; Recommended initial gene rating: Green List (high evidence); Phenotypes: Epilepsy, developmental delay, intellectual disability, autistic behavior and craniofacial dysmorphic features; Mode of inheritance: Autosomal dominant
Created: 20 Feb 2020, 5:25 p.m. | Last Modified: 20 Feb 2020, 5:25 p.m.
Panel Version: 0.12
Created: 20 Feb 2020, 5:25 p.m.
Last Modified: 20 Feb 2020, 5:25 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
  • Intellectual developmental disorder with seizures and language delay, OMIM:619000
  • Intellectual developmental disorder with seizures and language delay, MONDO:0033559
OMIM
611055
Clinvar variants
Variants in SETD1B
Penetrance
None
Publications
Panels with this gene

History Filter Activity

2 Mar 2021, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: SETD1B were changed from Epilepsy, developmental delay, intellectual disability, autistic behavior and craniofacial dysmorphic features to Intellectual developmental disorder with seizures and language delay, OMIM:619000; Intellectual developmental disorder with seizures and language delay, MONDO:0033559

20 Feb 2020, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene SETD1B were updated from to 30847515

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Epilepsy, developmental delay, intellectual disability, autistic behavior and craniofacial dysmorphic features for gene: SETD1B

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Epilepsy, developmental delay, intellectual disability, autistic behavior and craniofacial dysmorphic features for gene: SETD1B

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Epilepsy, developmental delay, intellectual disability, autistic behavior and craniofacial dysmorphic features for gene: SETD1B

19 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Epilepsy, developmental delay, intellectual disability, autistic behavior and craniofacial dysmorphic features for gene: SETD1B

19 Feb 2020, Gel status: 3

Set mode of inheritance, Set Phenotypes

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene SETD1B was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Epilepsy, developmental delay, intellectual disability, autistic behavior and craniofacial dysmorphic features for gene: SETD1B

14 Feb 2020, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source Next Generation Children Project was added to SETD1B.

14 Feb 2020, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Green was added to SETD1B. 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: SETD1B was added gene: SETD1B was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: SETD1B was set to