Severe microcephaly

Gene: CEP135

Green List (high evidence)

CEP135 (centrosomal protein 135)
EnsemblGeneIds (GRCh38): ENSG00000174799
EnsemblGeneIds (GRCh37): ENSG00000174799
OMIM: 611423, Gene2Phenotype
CEP135 is in 5 panels

1 review

Alice Gardham (Genomics England)

I don't know

Comment on list classification: Mutations in two families reported. Listed on GeneReview
Created: 11 Jan 2017, 2:19 p.m.
Mutations only identified in two sets of siblings from two different families. Probable DD in G2P. Good cell studies -this gene is involved in the centrosome; as are the other AR microcephaly genes
Created: 11 Jan 2017, 2:13 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Microcephaly 8, primary, autosomal recessive 614673

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Other
  • Literature
  • Expert list
Phenotypes
  • MCPH
  • primary microcephaly
  • Autosomal recessive primary microcephaly (MCPH)
  • ?Microcephaly 8, primary, autosomal recessive, 614673
  • Primary Microcephaly and Disturbed Centrosomal Function, 614673
OMIM
611423
Clinvar variants
Variants in CEP135
Penetrance
Complete
Panels with this gene

History Filter Activity

2 Mar 2017, Gel status: 4

panel promoted to version 1

Rebecca Foulger (Genomics England curator)

2nd March 2017: Panel review was assessed and panel was revised according to expert review and additional curation. This panel began with an expert gene list from Professor Andrew Jackson (University of Edinburgh) for primary microcephaly (MCPH) and microcephalic primordial dwarfism (MPD). Other disorders are included where microcephaly is a primary feature. Disorders where microcephaly is not the primary presenting feature are not included (e.g. congenital disorders of glycosylation, Proud syndrome, Norrie disease). The panel does not include disorders with a cortical malformation (e.g. lissencephaly) since the Malformations of cortical development' panel would be applied to these patients.

11 Jan 2017, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

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

11 Jan 2017, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

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

11 Jan 2017, Gel status: 2

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Amber List (Moderate Evidence).

13 Dec 2016, Gel status: 1

Added New Source

Rebecca Foulger (Genomics England curator)

CEP135 was added to Primary Microcephaly - Microcephalic Dwarfism Spectrumpanel. Source: UKGTN

13 Dec 2016, Gel status: 0

Set Mode of Inheritance, Added New Source

Rebecca Foulger (Genomics England curator)

CEP135 was added to Primary Microcephaly - Microcephalic Dwarfism Spectrumpanel. Source: Other Model of inheritance for gene CEP135 was set to BIALLELIC, autosomal or pseudoautosomal

13 Dec 2016, Gel status: 0

Added New Source

Rebecca Foulger (Genomics England curator)

CEP135 was added to Primary Microcephaly - Microcephalic Dwarfism Spectrumpanel. Source: Literature

13 Dec 2016, Gel status: 0

Added New Source

Rebecca Foulger (Genomics England curator)

CEP135 was added to Primary Microcephaly - Microcephalic Dwarfism Spectrumpanel. Sources: Expert list

13 Dec 2016, Gel status: 0

Created

Rebecca Foulger (Genomics England curator)

CEP135 was created by rfoulger