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 7.6 Latest signed off version: v7.0 (30 Apr 2025)	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 8.31 Latest signed off version: v8.0 (30 Apr 2025)	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 6.424 Latest signed off version: v6.0 (30 Apr 2025) 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 9.285 Latest signed off version: v9.0 (30 Apr 2025) 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