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Intellectual disability syndromic and non-syndromic

Gene: COPB2

Green List (high evidence)

COPB2 (coatomer protein complex subunit beta 2)
EnsemblGeneIds (GRCh38): ENSG00000184432
EnsemblGeneIds (GRCh37): ENSG00000184432
OMIM: 606990, Gene2Phenotype
COPB2 is in 6 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

All reported individuals have developmental delay of varying degrees, appears more severe with bi-allelic variants.
Created: 13 Sep 2021, 7:44 a.m. | Last Modified: 13 Sep 2021, 7:44 a.m.
Panel Version: 0.4115

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Osteoporosis, childhood- or juvenile-onset, with developmental delay, MIM# 619884

Belinda Chong (Victorian Clinical Genetics Services)

I don't know

Loss-of-function variants in COPB2 (MIM: 606990), a component of the COPI coatomer complex, in six individuals from five unrelated families presenting with a clinical spectrum of osteoporosis or os- teopenia, with or without fractures, and developmental delay of variable severity. A hypomorphic, homozygous missense variant in COPB2 was previously reported in two siblings with microcephaly, spasticity, and develop- mental delay (MIM: 617800) in whom we also here identified low bone mass. Data demonstrate that pathogenic variants in COPB2 lead to early onset osteoporosis and variable developmental delay and that COPB2 and the COPI complex are essential regulators of skeletal homeostasis

3 frameshift (2 de novo, 1 not maternal), 1 x splice (de novo), 2 missense (homozygous).
Sources: Literature
Created: 6 Sep 2021, 5:46 a.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Osteoporosis and developmental delay

Publications

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Osteoporosis, childhood- or juvenile-onset, with developmental delay, MIM# 619884
OMIM
606990
Clinvar variants
Variants in COPB2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

25 May 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: COPB2 were changed from Osteoporosis and developmental delay to Osteoporosis, childhood- or juvenile-onset, with developmental delay, MIM# 619884

13 Sep 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: copb2 has been classified as Green List (High Evidence).

6 Sep 2021, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: copb2 has been classified as Amber List (Moderate Evidence).

6 Sep 2021, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: copb2 has been classified as Amber List (Moderate Evidence).

6 Sep 2021, Gel status: 0

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

Belinda Chong (Victorian Clinical Genetics Services)

gene: COPB2 was added gene: COPB2 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature Mode of inheritance for gene: COPB2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: COPB2 were set to PMID: 34450031 Phenotypes for gene: COPB2 were set to Osteoporosis and developmental delay Review for gene: COPB2 was set to AMBER