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Gene: COG6

Green List (high evidence)

CDG2L is an autosomal recessive multisystem disorder apparent from birth or early infancy. It is characterized by poor growth, gastrointestinal and liver abnormalities, delayed psychomotor development, hypotonia, recurrent infections, hematologic abnormalities, increased bleeding tendency, and hyperhidrosis or hyperkeratosis. More variable features include nonspecific dysmorphic facial features and cardiac septal defects. The disorder often results in death in infancy or the first years of life.

HGNC approved symbol/name: COG6
Is the phenotype(s) severe and onset <18yo? Yes
Known technical challenges? No
Gene reported in 3 independent families: Yes (>5)

Note: Shaheen syndrome (MIM#615328) is an allelic disorder, with overlapping clinical features, but normal transferrin isoforms recorded creating confusion about whether it represents a distinct entity (ZS)

Created: 28 Nov 2024, 4:36 a.m. | Last Modified: 28 Nov 2024, 4:36 a.m.

Panel Version: 1.633

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Congenital disorder of glycosylation, type IIl (MIM# 614576)

Publications

• 20605848
• 23430903
• 26260076
• 32905044
• 32683677
• 31420886