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Intellectual disability

Gene: CEP104

Amber List (moderate evidence)

CEP104 (centrosomal protein 104)
EnsemblGeneIds (GRCh38): ENSG00000116198
EnsemblGeneIds (GRCh37): ENSG00000116198
OMIM: 616690, Gene2Phenotype
CEP104 is in 11 panels

4 reviews

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

Comment on list classification: There is sufficient evidence to support a Green rating on this panel, and so this gene will be flagged for review at the next GMS panel update (added 'for-review' tag)
Created: 14 Oct 2020, 11:27 a.m. | Last Modified: 14 Oct 2020, 11:27 a.m.
Panel Version: 3.439
Four unrelated cases reported (PMID:26477546 and 31625690). Moderate-severe ID recorded in two patients and was formally assessed in the remaining two due to young age. However, significant DD was noted in both and in line with the diagnosis of Joubert, it can be anticipated that their presentation is within the scope of this panel.
Created: 14 Oct 2020, 11:25 a.m. | Last Modified: 14 Oct 2020, 11:30 a.m.
Panel Version: 3.441
PMID: 31625690 - Fourth unrelated case of Joubert syndrome associated with biallelic variants in the CEP104 gene
Created: 14 Oct 2020, 11:05 a.m. | Last Modified: 14 Oct 2020, 11:05 a.m.
Panel Version: 3.438

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Joubert syndrome 25, 616781

Publications

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Three unrelated individuals reported, ID is part of the phenotype.
Created: 1 Feb 2020, 3:36 a.m. | Last Modified: 1 Feb 2020, 3:36 a.m.
Panel Version: 3.0

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Joubert syndrome 25, MIM# 616781

Publications

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

This is a pertinent gene from the NIHR BioResource - Rare Diseases Study (NIHRBR-RD) BRIDGE Study : SPEED (Specialist Pathology: Evaluating Exomes in Diagnostics) which covers epilepsies, movement and microcephaly disorders, this gene is on the SPEED_NEURO_20170705 gene list. Evidences used for SPEED NEURO gene list: in_ddg2p_2_4_2017;in_ddg2p_2_4_2017_conf . Main mutation mechanism : loss of function
Created: 27 Jul 2017, 5:18 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

Louise Daugherty (Genomics England Curator)

Comment on list classification: This gene is from an expert list and needs further assessment by the Genomics England curation team to access inclusion and pertinence to this panel.
Created: 28 Jul 2017, 9:44 a.m.

History Filter Activity

14 Oct 2020, Gel status: 2

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: CEP104 were changed from JOUBERT SYNDROME to Joubert syndrome 25, 616781

14 Oct 2020, Gel status: 2

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: CEP104 were set to

14 Oct 2020, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: cep104 has been classified as Amber List (Moderate Evidence).

14 Oct 2020, Gel status: 2

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag for-review tag was added to gene: CEP104.

12 Mar 2018, Gel status: 2

Panel promoted to version 2.0

Ellen McDonagh (Genomics England Curator)

12.03.2018: Due to major updates completed (Phase 1, 2 and 3), this panel was promoted to Version 2 in order to reflect the major updates since November 2017 which have resulted in reviews for 836 genes added by Genomics England Curators and the Clinical Team, 130 new Green genes added to the interpretation pipeline (from 751 to 881 Green genes), and the gene total has increased from 1879 to 1927.

28 Jul 2017, Gel status: 2

Gene classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

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

27 Jul 2017, Gel status: 0

Created

BRIDGE consortium (NIHRBR-RD)

CEP104 was created by BRIDGE

27 Jul 2017, Gel status: 0

Added New Source

BRIDGE consortium (NIHRBR-RD)

CEP104 was added to Intellectual disabilitypanel. Sources: BRIDGE study SPEED NEURO Tier1 Gene