Cerebral vascular malformations

Gene: CCER2

I don't know

Comment on list classification: As reviewed by Alexandra Njegic, PMID:27717682 reported the identification of CCER2 variants in two pedigrees with Moyamoya disease. One of the monozygotic twins from family 2 with the missense variant was unaffected suggesting reduced penetrance.

Although CCER2 variants were identified in three of 135 MMD probands additionally sequenced, two of them had RNF213 p.Arg4810Lys founder variant, and one had Graves disease.

In silicon functional analysis predicts that these variants promote aggregation or oligomerization of their protein product.

This gene has not yet been associated with relevant phenotypes either in OMIM or in Gene2Phenotype.

This gene should be rated amber with current evidence.

Created: 9 May 2025, 6:11 p.m. | Last Modified: 9 May 2025, 6:11 p.m.

Panel Version: 4.4

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Moyamoya Disease, MONDO:0016820

Publications

• 27717682

I don't know

27717682: 2 pedigrees (without RNF213 variants), authors identified a delins and a missense variant (one twin unaffected with same missense variant, suggests reduced penetrance). Additional 135 MMD probands sequenced, identified 1 recurrent and an additional 2 in-frame indels (2 probands had RNF213 p.R4810K, and the other had Graves disease). In silico modelling predicts aggregation or oligomerization of CCER2 protein product; insufficient evidence to suggest LOF or GOF.
Sources: Literature

Created: 15 Apr 2025, 10:44 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Moyamoya Disease

Publications

• 27717682

Mode of pathogenicity
Other