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Severe Paediatric Disorders

Gene: SEMA3E

Amber List (moderate evidence)

SEMA3E (semaphorin 3E)
EnsemblGeneIds (GRCh38): ENSG00000170381
EnsemblGeneIds (GRCh37): ENSG00000170381
OMIM: 608166, Gene2Phenotype
SEMA3E is in 7 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: SEMA3E; Recommended initial gene rating: I don't know; Phenotypes: ?Leukoencephalopathy with dystonia and motor neuropathy, 613724 (3); Mode of inheritance: Autosomal recessive
Created: 20 Feb 2020, 5:28 p.m. | Last Modified: 20 Feb 2020, 5:28 p.m.
Panel Version: 0.12

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Next Generation Children Project
  • Expert Review Amber
  • Expert list
Phenotypes
  • ?Leukoencephalopathy with dystonia and motor neuropathy, 613724
OMIM
608166
Clinvar variants
Variants in SEMA3E
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Feb 2020, Gel status: 2

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene SEMA3E were updated from to 30847515

20 Feb 2020, Gel status: 2

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes ?Leukoencephalopathy with dystonia and motor neuropathy, 613724 for gene: SEMA3E

20 Feb 2020, Gel status: 2

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes ?Leukoencephalopathy with dystonia and motor neuropathy, 613724 for gene: SEMA3E

20 Feb 2020, Gel status: 2

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes ?Leukoencephalopathy with dystonia and motor neuropathy, 613724 for gene: SEMA3E

19 Feb 2020, Gel status: 2

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes ?Leukoencephalopathy with dystonia and motor neuropathy, 613724 for gene: SEMA3E

19 Feb 2020, Gel status: 2

Set mode of inheritance, Set Phenotypes

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene SEMA3E was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes ?Leukoencephalopathy with dystonia and motor neuropathy, 613724 for gene: SEMA3E

14 Feb 2020, Gel status: 2

Added New Source

Louise Daugherty (Genomics England Curator)

Source Next Generation Children Project was added to SEMA3E.

14 Feb 2020, Gel status: 2

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Amber was added to SEMA3E. Rating Changed from Red List (low evidence) to Amber List (moderate evidence)

14 Feb 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: SEMA3E was added gene: SEMA3E was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: SEMA3E was set to