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  3. CCDC88A
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Primary lymphoedema

Gene: CCDC88A

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

3 reviews

Rebecca Foulger (Genomics England curator)

Comment on list classification: Kept rating as Red: Rated as 'possible' link to PEHO-like syndrome in DD-G2P. Still only 1 family reported so far (PMID:26917597)
Created: 15 Aug 2017, 10:48 a.m.
Comment on phenotypes: Updated phenotype from MIM:260565 to MIM:617507 to match new gene/phenotype information in OMIM. Note that PEHO syndrome 260565 is now attributed to ZNHIT3 gene.
Created: 15 Aug 2017, 10:46 a.m.
Created: 15 Aug 2017, 10:46 a.m.

Panel version: 1.8

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM, not in G2P / DD. Only one variant reported to date (November 2016)
Created: 1 Nov 2016, 5:03 p.m.
Created: 1 Nov 2016, 5:03 p.m.

Panel version: 0.13

Pia Ostergaard (St George's)

Red List (low evidence)

Not in the lymphoedema clinic
Created: 1 Nov 2016, 3:51 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
PEHO syndrome 260565

Created: 1 Nov 2016, 3:51 p.m.

Panel version: 0.9

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • ?PEHO syndrome-like, 617507
OMIM
609736
Clinvar variants
Variants in CCDC88A
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

15 Aug 2017, Gel status: 1

Gene classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

This gene has been classified as Red List (Low Evidence).

15 Aug 2017, Gel status: 1

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for CCDC88A were set to ?PEHO syndrome-like, 617507

2 Nov 2016, Gel status: 1

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

A combined panel for lymphatic disorders - Meiges disease - Milroy disease - Lymphoedema distichiasis Promoted to V1 02/11/2016

1 Nov 2016, Gel status: 1

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

30 Sep 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

CCDC88A was created by sleigh

30 Sep 2016, Gel status: 0

Added New Source

Sarah Leigh (Genomics England Curator)

CCDC88A was added to Lymphatic Disorderspanel. Sources: Literature