Severe microcephaly
Gene: CEP135
As discussed with the GMS Neurology Specialist Test Group webex call 11th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this gene GreenCreated: 29 Jul 2019, 4:18 p.m. | Last Modified: 29 Jul 2019, 4:18 p.m.
Panel Version: 1.62
Comment on list classification: Mutations in two families reported. Listed on GeneReviewCreated: 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 genesCreated: 11 Jan 2017, 2:13 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Microcephaly 8, primary, autosomal recessive 614673
Publications
Source NHS GMS was added to CEP135.
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.
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
This gene has been classified as Amber List (Moderate Evidence).
CEP135 was added to Primary Microcephaly - Microcephalic Dwarfism Spectrumpanel. Source: UKGTN
CEP135 was added to Primary Microcephaly - Microcephalic Dwarfism Spectrumpanel. Source: Other Model of inheritance for gene CEP135 was set to BIALLELIC, autosomal or pseudoautosomal
CEP135 was added to Primary Microcephaly - Microcephalic Dwarfism Spectrumpanel. Source: Literature
CEP135 was added to Primary Microcephaly - Microcephalic Dwarfism Spectrumpanel. Sources: Expert list
CEP135 was created by rfoulger