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  3. CEP120
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Thoracic dystrophies

Gene: CEP120

Green List (high evidence)
CEP120 (centrosomal protein 120)
EnsemblGeneIds (GRCh38): ENSG00000168944
EnsemblGeneIds (GRCh37): ENSG00000168944
OMIM: 613446, Gene2Phenotype
CEP120 is in 10 panels

3 reviews

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Two green reviews, and >3 families/cases reported. Is green on the Unexplained skeletal dysplasia Version 1.32 gene panel.
Created: 26 May 2017, 9:41 a.m.
Created: 26 May 2017, 9:40 a.m.

Panel version: 0.47

Melita Irving (Guy's and St Thomas' NHS Trust)

Green List (high evidence)

Phenotypes
JATD/JBTS/OFD

Created: 26 May 2017, 8:01 a.m.

Panel version: 0.35

Hannah Mitchison (UCL and GOSH)

Green List (high evidence)

Phenotypes
JATD/JBTS/OFD

Created: 25 May 2017, 9:24 a.m.

Panel version: 0.5

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Short-rib thoracic dysplasia 13 with or without polydactyly 616300
  • ORPHA:474 Jeune syndrome
  • ORPHA:475 Joubert syndrome
  • ORPHA:220493 Joubert syndrome with ocular defect
OMIM
613446
Clinvar variants
Variants in CEP120
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

31 May 2017, Gel status: 4

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

31/05/2017: Panel revised after expert input, clinical review, and further curation. Ready to promote to version 1.

26 May 2017, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for CEP120 were set to Short-rib thoracic dysplasia 13 with or without polydactyly 616300;ORPHA:474 Jeune syndrome;ORPHA:475 Joubert syndrome;ORPHA:220493 Joubert syndrome with ocular defect

26 May 2017, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

26 May 2017, Gel status: 4

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for CEP120 were set to 25361962; 27208211

26 May 2017, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

26 May 2017, Gel status: 0

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for CEP120 were set to Short-rib thoracic dysplasia 13 with or without polydactyly 616300

26 May 2017, Gel status: 0

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for CEP120 were set to 25361962

26 May 2017, Gel status: 0

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for CEP120 was changed to BIALLELIC, autosomal or pseudoautosomal

25 May 2017, Gel status: 0

Approved Gene

Ellen McDonagh (Genomics England Curator)

This proposed gene was validated and added to this panel

25 May 2017, Gel status: 0

Approved Gene

Ellen McDonagh (Genomics England Curator)

This proposed gene was validated and added to this panel

25 May 2017, Gel status: 0

Added New Source

Hannah Mitchison (UCL and GOSH)

CEP120 was added to Thoracic dystrophiespanel. Sources: Expert Review

25 May 2017, Gel status: 0

Created

Hannah Mitchison (UCL and GOSH)

CEP120 was created by hmitchis