COPB1

coatomer protein complex subunit beta 1
OMIM: 600959, Gene2Phenotype

4 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 4 panels
Amber COPB1 in Bilateral congenital or childhood onset cataracts Level 2: Ophthalmology Version 8.1 Latest signed off version: v8.0 (6 May 2026)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Baralle-Macken syndrome, OMIM:619255 Severe intellectual disability Cataracts Variable microcephaly
Amber COPB1 in Severe microcephaly Level 2: Neurology Version 9.3 Latest signed off version: v9.0 (6 May 2026)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Baralle-Macken syndrome, OMIM:619255 Severe intellectual disability Cataracts Variable microcephaly
Red COPB1 in DDG2P Version 7.1 Latest signed off version: v7.0 (6 May 2026) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red DD-Gene2Phenotype Phenotypes COPB1-related severe intellectual disability syndrome with cataracts and variable microcephaly
Amber COPB1 in Intellectual disability Level 2: Developmental disorders Version 10.17 Latest signed off version: v10.0 (6 May 2026) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Baralle-Macken syndrome, OMIM:619255 Severe intellectual disability Cataracts Variable microcephaly Tags watchlist