Primary ciliary disorders
Gene: MCIDAS

MCIDAS (multiciliate differentiation and DNA synthesis associated cell cycle protein)
EnsemblGeneIds (GRCh38): ENSG00000234602
EnsemblGeneIds (GRCh37): ENSG00000234602
OMIM: 614086, Gene2Phenotype
MCIDAS is in 4 panels

2 reviews

Hannah Mitchison (UCL and GOSH)

Green List (high evidence)

UK mutations reported. RGMC Reduced Generation of Multiple Motile Cilia
Created: 31 Dec 2016, 10:44 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Too new - not yet linked to the PCD mutations publication

Publications

PMID:25048963

Variants in this GENE are reported as part of current diagnostic practice

Caroline Wright (Genomics England Curator)

Comment on list classification: REF 25048963: Sequence analyses revealed biallelic mutations in three additional families with a total of eight individuals.
Created: 10 May 2016, 9:43 a.m.

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green

Phenotypes

Ciliary dyskinesia, primary, 42, OMIM:618695,MONDO:0032872

OMIM

614086

Clinvar variants

Variants in MCIDAS

Penetrance

Complete

Publications

PMID:25048963
24771309

Panels with this gene

History Filter Activity

6 Jan 2021, Gel status: 3

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: MCIDAS were changed from Too new - not yet linked to the PCD mutations publication to Ciliary dyskinesia, primary, 42, OMIM:618695,MONDO:0032872

10 May 2016, Gel status: 4