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Newborns main panel

Gene: MCIDAS

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

1 review

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is loss-of-function (LOF).
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.
Panel Version: 0.137
https://search.clinicalgenome.org/kb/genes/HGNC:40050
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.
Panel Version: 0.134
Created: 1 Jun 2023, 12:22 p.m.
Last Modified: 1 Jun 2023, 12:22 p.m.
Panel version: 0.137

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • ciliary dyskinesia, primary, 42
OMIM
614086
Clinvar variants
Variants in MCIDAS
Penetrance
None
Panels with this gene

History Filter Activity

14 Sep 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes ciliary dyskinesia, primary, 42 for gene: MCIDAS

5 Jul 2023, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to MCIDAS. Added phenotypes ciliary dyskinesia, primary, 42 for gene: MCIDAS Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

31 May 2023, Gel status: 2

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to MCIDAS. Added phenotypes ciliary dyskinesia, primary, 42 for gene: MCIDAS Rating Changed from No List (delete) to Amber List (moderate evidence)

5 May 2023, Gel status: 0

Added New Source, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Removed was added to MCIDAS. Rating Changed from Amber List (moderate evidence) to No List (delete)

27 Mar 2023, Gel status: 2

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Mafalda Gomes (Genomics England Curator)

gene: MCIDAS was added gene: MCIDAS was added to Newborns main panel. Sources: Expert Review Amber Mode of inheritance for gene: MCIDAS was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MCIDAS were set to ciliary dyskinesia, primary, 42