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Mendeliome

Gene: CCDC66

Red List (low evidence)

CCDC66 (coiled-coil domain containing 66)
EnsemblGeneIds (GRCh38): ENSG00000180376
EnsemblGeneIds (GRCh37): ENSG00000180376
CCDC66 is in 1 panel

2 reviews

Ain Roesley (Victorian Clinical Genetics Services)

Comment when marking as ready: de novo NMD in another family
5 other de novo missense (D94E absent in nomad, T121A 25 hets, R499C 31 hets, R553Q 59 hets, K803E 40 hets)

noted that there's lots of NMD variants in gnomad v4
Created: 2 Nov 2023, 2:02 a.m. | Last Modified: 2 Nov 2023, 2:02 a.m.
Panel Version: 1.1348

Anna Ritchie (Victorian Clinical Genetics Services)

Red List (low evidence)

Nonsense variant (c.172C>T, p.Q58X) segregating in family with 5 affected members with high myopia (HM). Additionally, one family member with the variant displayed no symptoms, hinting at possible incomplete penetrance. Six other rare variants were identified in 200 sporadic high myopia patients that could potentially be linked to HM. A deficiency in CCDC66 might disrupt cell proliferation by influencing the mitotic process during retinal growth, leading to HM.
Sources: Literature
Created: 2 Nov 2023, 1:46 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
Phenotypes
  • myopia MONDO:0001384, CCDC66-related
Clinvar variants
Variants in CCDC66
Penetrance
None
Publications
Panels with this gene

History Filter Activity

2 Nov 2023, Gel status: 1

Set Phenotypes

Ain Roesley (Victorian Clinical Genetics Services)

Phenotypes for gene: CCDC66 were changed from to myopia MONDO:0001384, CCDC66-related

2 Nov 2023, Gel status: 1

Entity classified by Genomics England curator

Ain Roesley (Victorian Clinical Genetics Services)

Gene: ccdc66 has been classified as Red List (Low Evidence).

2 Nov 2023, Gel status: 0

Entity classified by Genomics England curator

Ain Roesley (Victorian Clinical Genetics Services)

Gene: ccdc66 has been removed from the panel.

2 Nov 2023, Gel status: 0

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

Anna Ritchie (Victorian Clinical Genetics Services)

gene: CCDC66 was added gene: CCDC66 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: CCDC66 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CCDC66 were set to PMID: 37852749 Review for gene: CCDC66 was set to RED