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  3. COPB1
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Cataract

Gene: COPB1

Amber List (moderate evidence)
COPB1 (coatomer protein complex subunit beta 1)
EnsemblGeneIds (GRCh38): ENSG00000129083
EnsemblGeneIds (GRCh37): ENSG00000129083
OMIM: 600959, Gene2Phenotype
COPB1 is in 5 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Two unrelated families, some supportive functional data.
Sources: Literature
Created: 15 Mar 2021, 2:48 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Baralle-Macken syndrome, MIM# 619255; Severe intellectual disability; variable microcephaly; cataracts

Publications

Created: 15 Mar 2021, 2:48 a.m.

Panel version: 0.268

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Baralle-Macken syndrome, MIM# 619255
  • Severe intellectual disability
  • variable microcephaly
  • cataracts
OMIM
600959
Clinvar variants
Variants in COPB1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

7 Apr 2021, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: COPB1 were changed from Severe intellectual disability; variable microcephaly; cataracts to Baralle-Macken syndrome, MIM# 619255; Severe intellectual disability; variable microcephaly; cataracts

15 Mar 2021, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: copb1 has been classified as Amber List (Moderate Evidence).

15 Mar 2021, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: copb1 has been classified as Amber List (Moderate Evidence).

15 Mar 2021, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: COPB1 was added gene: COPB1 was added to Cataract. Sources: Literature Mode of inheritance for gene: COPB1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COPB1 were set to 33632302 Phenotypes for gene: COPB1 were set to Severe intellectual disability; variable microcephaly; cataracts Review for gene: COPB1 was set to AMBER