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DDG2P

Gene: CCDC88A

Green List (high evidence)
CCDC88A (coiled-coil domain containing 88A)
EnsemblGeneIds (GRCh38): ENSG00000115355
EnsemblGeneIds (GRCh37): ENSG00000115355
OMIM: 609736, Gene2Phenotype
CCDC88A is in 5 panels

2 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The DDG2P confidence category for the disease CCDC88A-related PEHO-like syndrome with neuronal migration disorder, seizures and microcephaly, OMIM:617507 is moderate. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product;decreased gene product level (PMID: 37798908;30392057;26917597).
Created: 26 Sep 2024, 8:30 p.m. | Last Modified: 26 Sep 2024, 8:30 p.m.
Panel Version: 4.10
The DDG2P confidence category for the disease PEHO-like syndrome, OMIM:617507 is limited. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product (PMID:26917597).
Created: 4 Oct 2023, 5:08 p.m. | Last Modified: 4 Oct 2023, 5:08 p.m.
Panel Version: 3.12

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
PEHO-like syndrome, OMIM:617507; CCDC88A-related PEHO-like syndrome with neuronal migration disorder, seizures and microcephaly, OMIM:617507

Publications

Created: 4 Oct 2023, 5:08 p.m.
Last Modified: 4 Oct 2023, 5:08 p.m.
Panel version: 4.10

Rebecca Foulger (Genomics England curator)

I don't know

Original DDG2P rating: possible. No MOP listed in DD-G2P download. No MOI listed in DD-G2P download.
Created: 19 Nov 2018, 11:29 a.m.
Created: 19 Nov 2018, 11:29 a.m.

Panel version: 0.2

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • DD-Gene2Phenotype
Phenotypes
  • PEHO-like syndrome
OMIM
609736
Clinvar variants
Variants in CCDC88A
Penetrance
None
Publications
Panels with this gene

History Filter Activity

26 Sep 2024, Gel status: 3

Added New Source, Status Update

Achchuthan Shanmugasundram (Genomics England Curator)

Source Expert Review Green was added to CCDC88A. Rating Changed from Red List (low evidence) to Green List (high evidence)

4 Oct 2023, Gel status: 1

Set mode of inheritance

Achchuthan Shanmugasundram (Genomics England Curator)

Mode of inheritance for gene CCDC88A was changed from to BIALLELIC, autosomal or pseudoautosomal

29 Jan 2019, Gel status: 1

Panel promoted to version 1.0

Rebecca Foulger (Genomics England curator)

Rebecca Foulger: Original DDG2P rating: possibl

19 Nov 2018, Gel status: 1

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

Rebecca Foulger (Genomics England curator)

gene: CCDC88A was added gene: CCDC88A was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: CCDC88A was set to Publications for gene: CCDC88A were set to 26917597 Phenotypes for gene: CCDC88A were set to PEHO-like syndrome