Activity
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| Severe microcephaly v9.37 | COPB2 | Ida Ertmanska Publications for gene: COPB2 were set to 29036432 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v9.36 | COPB2 | Ida Ertmanska Phenotypes for gene: COPB2 were changed from Microcephaly, HP:0000252 to ?Microcephaly 19, primary, autosomal recessive, OMIM:617800; microcephaly 19, primary, autosomal recessive, MONDO:0054716 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v9.35 | COPB2 |
Ida Ertmanska changed review comment from: PMID: 37734708 Shiri et al., 2023 Report of a 8.5 yo female proband, born to consanguineous parents. Patient had global developmental delay, intellectual disability, microcephaly (head circumference 42cm, -8.1 SD), seizures, spasticity, strabismus, and failure to thrive symptoms. The proband did not manifest any skeletal problems. She harboured a homozygous NM_004766.3:c.760 C>T, p.Arg254Cys variant - same as in the first Native American family reported in PMID: 29036432. Seq method: WES + Sanger. Parents were heterozygous and unaffected. Of note, sibs in PMID: 29036432 (DiStasio et al., 2017) also had a CNV reported: 16.8 Mb region of absence of heterozygosity (AOH) on chromosome 3q22.1–3q24 (131,374,802–148,170,986; hg19). Osteogenesis imperfecta has been linked to chromosome 3p22-24.1 (PMID: 12110407). COPB2 is associated with AD Osteoporosis, childhood- or juvenile-onset, with developmental delay, OMIM:619884 and AR ?Microcephaly 19, primary, autosomal recessive, OMIM:617800 (OMIM accessed 9th Oct 2026).; to: PMID: 37734708 Shiri et al., 2023 Report of a 8.5 yo female proband, born to consanguineous parents. Patient had global developmental delay, intellectual disability, microcephaly (head circumference 42cm, -8.1 SD), seizures, spasticity, strabismus, and failure to thrive symptoms. The proband did not manifest any skeletal problems. She harboured a homozygous NM_004766.3:c.760 C>T, p.Arg254Cys variant - same as in the first Native American family reported in PMID: 29036432. Seq method: WES + Sanger. Parents were heterozygous and unaffected. Of note, sibs in PMID: 29036432 (DiStasio et al., 2017) also had a CNV reported: 16.8 Mb region of absence of heterozygosity (AOH) on chromosome 3q22.1–3q24 (131,374,802–148,170,986; hg19). COPB2 is associated with AD Osteoporosis, childhood- or juvenile-onset, with developmental delay, OMIM:619884 and AR ?Microcephaly 19, primary, autosomal recessive, OMIM:617800 (OMIM accessed 9th Oct 2026). |
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| Severe microcephaly v9.35 | COPB2 |
Ida Ertmanska changed review comment from: PMID: 37734708 Shiri et al., 2023 Report of a 8.5 yo female proband, born to consanguineous parents. Patient had global developmental delay, intellectual disability, microcephaly (head circumference 42cm, -8.1 SD), seizures, spasticity, strabismus, and failure to thrive symptoms. The proband did not manifest any skeletal problems. She harboured a homozygous NM_004766.3:c.760 C>T, p.Arg254Cys variant - same as in the first Native American family reported in PMID: 29036432. Seq method: WES + Sanger. Parents were heterozygous and unaffected. Of note, sibs in PMID: 29036432 (DiStasio et al., 2017) also had a CNV reported: 16.8 Mb region of absence of heterozygosity (AOH) on chromosome 3q22.1–3q24 (131,374,802–148,170,986; hg19). COPB2 is associated with AD Osteoporosis, childhood- or juvenile-onset, with developmental delay, OMIM:619884 and AR ?Microcephaly 19, primary, autosomal recessive, OMIM:617800 (OMIM accessed 9th Oct 2026).; to: PMID: 37734708 Shiri et al., 2023 Report of a 8.5 yo female proband, born to consanguineous parents. Patient had global developmental delay, intellectual disability, microcephaly (head circumference 42cm, -8.1 SD), seizures, spasticity, strabismus, and failure to thrive symptoms. The proband did not manifest any skeletal problems. She harboured a homozygous NM_004766.3:c.760 C>T, p.Arg254Cys variant - same as in the first Native American family reported in PMID: 29036432. Seq method: WES + Sanger. Parents were heterozygous and unaffected. Of note, sibs in PMID: 29036432 (DiStasio et al., 2017) also had a CNV reported: 16.8 Mb region of absence of heterozygosity (AOH) on chromosome 3q22.1–3q24 (131,374,802–148,170,986; hg19). Osteogenesis imperfecta has been linked to chromosome 3p22-24.1 (PMID: 12110407). COPB2 is associated with AD Osteoporosis, childhood- or juvenile-onset, with developmental delay, OMIM:619884 and AR ?Microcephaly 19, primary, autosomal recessive, OMIM:617800 (OMIM accessed 9th Oct 2026). |
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| Severe microcephaly v9.35 | COPB2 |
Ida Ertmanska changed review comment from: PMID: 37734708 Shiri et al., 2023 Report of a 8.5 yo female proband, born to consanguineous parents. Patient had global developmental delay, intellectual disability, microcephaly (head circumference 42cm, -8.1 SD), seizures, spasticity, strabismus, and failure to thrive symptoms. The proband did not manifest any skeletal problems. She harboured a homozygous NM_004766.3:c.760 C>T, p.Arg254Cys variant - same as in the first Native American family reported in PMID: 29036432. Seq method: WES + Sanger. Parents were heterozygous and unaffected. Of note, sibs in PMID: 29036432 (DiStasio et al., 2017) also had a CNV reported: 16.8 Mb region of absence of heterozygosity (AOH) on chromosome 3q22.1–3q24 (131,374,802–148,170,986; hg19).; to: PMID: 37734708 Shiri et al., 2023 Report of a 8.5 yo female proband, born to consanguineous parents. Patient had global developmental delay, intellectual disability, microcephaly (head circumference 42cm, -8.1 SD), seizures, spasticity, strabismus, and failure to thrive symptoms. The proband did not manifest any skeletal problems. She harboured a homozygous NM_004766.3:c.760 C>T, p.Arg254Cys variant - same as in the first Native American family reported in PMID: 29036432. Seq method: WES + Sanger. Parents were heterozygous and unaffected. Of note, sibs in PMID: 29036432 (DiStasio et al., 2017) also had a CNV reported: 16.8 Mb region of absence of heterozygosity (AOH) on chromosome 3q22.1–3q24 (131,374,802–148,170,986; hg19). COPB2 is associated with AD Osteoporosis, childhood- or juvenile-onset, with developmental delay, OMIM:619884 and AR ?Microcephaly 19, primary, autosomal recessive, OMIM:617800 (OMIM accessed 9th Oct 2026). |
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| Severe microcephaly v9.35 | COPB2 | Ida Ertmanska changed review comment from: Comment on list classification: There are now two unrelated probands reported with biallelic COPB2 variants and severe microcephaly. Hence, the gene can be rated Amber.; to: Comment on list classification: There are now two unrelated probands reported with the same homozygous missense COPB2 variant and severe microcephaly. Hence, the gene can be rated Amber. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v9.35 | COPB2 | Ida Ertmanska changed review comment from: Comment on list classification: There are now two unrelated probands reported with biallelic COPB2 variants and severe microcephaly. Hence, the gene can now be rated Amber.; to: Comment on list classification: There are now two unrelated probands reported with biallelic COPB2 variants and severe microcephaly. Hence, the gene can be rated Amber. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v9.35 | COPB2 | Ida Ertmanska Classified gene: COPB2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v9.35 | COPB2 | Ida Ertmanska Added comment: Comment on list classification: There are now two unrelated probands reported with biallelic COPB2 variants and severe microcephaly. Hence, the gene can now be rated Amber. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v9.35 | COPB2 | Ida Ertmanska Gene: copb2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v9.34 | COPB2 | Ida Ertmanska reviewed gene: COPB2: Rating: AMBER; Mode of pathogenicity: None; Publications: 29036432, 37734708; Phenotypes: ?Microcephaly 19, primary, autosomal recessive, OMIM:617800, microcephaly 19, primary, autosomal recessive, MONDO:0054716; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v2.229 | COPB2 |
Eleanor Williams gene: COPB2 was added gene: COPB2 was added to Severe microcephaly. Sources: Literature Mode of inheritance for gene: COPB2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COPB2 were set to 29036432 Phenotypes for gene: COPB2 were set to Microcephaly, HP:0000252 Review for gene: COPB2 was set to RED Added comment: PMID: 29036432 - DiStasio et al 2017 - report of severe microcephaly (developing to be below -4.0 SD) and severe intellectual disability in the two siblings with a COPB2 homozygous variant. The siblings were later investigated for low bone mass in PMID: 34450031 - Marom et al 2021 (in which heterozygous variants in COPB2 in 4 other families with probands with osteoporosis and developmental delay were identified, but no microcephaly reported). Sources: Literature |
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