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Research panel - Severe Paediatric Disorders

Gene: CTSD

Green List (high evidence)
CTSD (cathepsin D)
EnsemblGeneIds (GRCh38): ENSG00000117984
EnsemblGeneIds (GRCh37): ENSG00000117984
OMIM: 116840, Gene2Phenotype
CTSD is in 12 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: CTSD; Recommended initial gene rating: Green List (high evidence); Phenotypes: Ceroid lipofuscinosis, neuronal, 10, 610127 (3); Mode of inheritance: Autosomal recessive
Created: 20 Feb 2020, 5:18 p.m. | Last Modified: 20 Feb 2020, 5:18 p.m.
Panel Version: 0.12
Created: 20 Feb 2020, 5:18 p.m.
Last Modified: 20 Feb 2020, 5:18 p.m.
Panel version: 0.12

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • Ceroid lipofuscinosis, neuronal, 10, 610127
OMIM
116840
Clinvar variants
Variants in CTSD
Penetrance
None
Publications
Panels with this gene

History Filter Activity

21 Feb 2020, Gel status: 3

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene CTSD was changed from to BIALLELIC, autosomal or pseudoautosomal

20 Feb 2020, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene CTSD were updated from to 30847515

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Ceroid lipofuscinosis, neuronal, 10, 610127 for gene: CTSD

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Ceroid lipofuscinosis, neuronal, 10, 610127 for gene: CTSD

19 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Ceroid lipofuscinosis, neuronal, 10, 610127 for gene: CTSD

19 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Ceroid lipofuscinosis, neuronal, 10, 610127 for gene: CTSD

14 Feb 2020, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source Next Generation Children Project was added to CTSD.

14 Feb 2020, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

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