| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Brain Calcification v1.39 | COL4A1 | Zornitza Stark Publications for gene: COL4A1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Brain Calcification v1.38 | COL4A2 |
Yetong Chen changed review comment from: There is no sufficient evidence supporting a causal role of the COL4A2 gene in brain calcification. PMID 33247988 reports a patient with focal lesions with increased echogenicity in the right basal ganglia, which was suspected to result from either haemorrhage or calcification. However, the patient carries full duplications and deletions of COL4A1 and COL4A2, so it is likely that the brain calcification is not caused by COL4A2. PMID 33577044 summarises that 4 patients with COL4A2 developed brain calcification, including 1 case from PMID 21357838, 2 cases from PMID 30315939 and 1 from the present paper. This paper does not mention brain calcification found in the 2 reported cases. (Interestingly, there is a calculation mistake for the total number of patients with COL4A2 who had brain calcification. The sum should be 4 instead of 5.) None of the patients reported by PMID 21357838 carried COL4A2 variants nor developed brain calcification. Although PMID 30315939 reports 2 patients with COL4A2 variants, they did not show any sign of calcification. Sources: Expert list; to: There is no sufficient evidence supporting a causal role of the COL4A2 gene in brain calcification. PMID 33247988 reports a patient with focal lesions with increased echogenicity in the right basal ganglia, which was suspected to result from either haemorrhage or calcification. However, the patient carries full duplications and deletions of COL4A1 and COL4A2, so it is likely that the brain calcification is not caused by COL4A2. PMID 33577044 summarises that 4 patients with COL4A2 developed brain calcification, including 1 case from PMID 21357838, 2 cases from PMID 30315939 and 1 from the present paper. This paper does not mention brain calcification found in the 2 reported cases. (There is a calculation mistake for the total number of patients with COL4A2 who had brain calcification. The sum should be 4 instead of 5.) None of the patients reported by PMID 21357838 carried COL4A2 variants nor developed brain calcification. Although PMID 30315939 reports 2 patients with COL4A2 variants, they did not show any sign of calcification. Sources: Expert list |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Brain Calcification v1.38 | COL4A2 |
Yetong Chen gene: COL4A2 was added gene: COL4A2 was added to Brain Calcification. Sources: Expert list Mode of inheritance for gene: COL4A2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: COL4A2 were set to 33577044; 33247988 Phenotypes for gene: COL4A2 were set to Brain small vessel disease 2, MIM# 614483 Review for gene: COL4A2 was set to RED Added comment: There is no sufficient evidence supporting a causal role of the COL4A2 gene in brain calcification. PMID 33247988 reports a patient with focal lesions with increased echogenicity in the right basal ganglia, which was suspected to result from either haemorrhage or calcification. However, the patient carries full duplications and deletions of COL4A1 and COL4A2, so it is likely that the brain calcification is not caused by COL4A2. PMID 33577044 summarises that 4 patients with COL4A2 developed brain calcification, including 1 case from PMID 21357838, 2 cases from PMID 30315939 and 1 from the present paper. This paper does not mention brain calcification found in the 2 reported cases. (Interestingly, there is a calculation mistake for the total number of patients with COL4A2 who had brain calcification. The sum should be 4 instead of 5.) None of the patients reported by PMID 21357838 carried COL4A2 variants nor developed brain calcification. Although PMID 30315939 reports 2 patients with COL4A2 variants, they did not show any sign of calcification. Sources: Expert list |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Brain Calcification v1.38 | COL4A1 | Yetong Chen Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Brain Calcification v1.38 | COL4A1 |
Yetong Chen edited their review of gene: COL4A1: Added comment: In total, 20 patients with COL4A1 variants who developed brain calcification were reported. PMID 22134833 reports 5 patients with different COL4A1 variants who developed brain calcification. PMID 24372060 mentions a patient who has been reported by PMID 22134833 (case 3). PMID 25719457 reports 2 unrelated patients with different COL4A1 variants who developed brain calcification. PMID 23225343 reports 7 patients with different COL4A1 variants who developed brain calcification. PMID 22932948 reports 3 patients with COL4A1 variants who developed brain calcification, and mentions 5 patients who have been reported by PMID 22134833.; Changed publications: 24372060, 22134833, 25719457, 23225343, 22932948 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Brain Calcification v1.38 | COL4A1 | Yetong Chen reviewed gene: COL4A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24372060, 22134833; Phenotypes: Brain small vessel disease with or without ocular anomalies, MIM#175780; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Brain Calcification v0.90 | COL4A1 | Zornitza Stark Marked gene: COL4A1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Brain Calcification v0.90 | COL4A1 | Zornitza Stark Gene: col4a1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Brain Calcification v0.90 | COL4A1 | Zornitza Stark Phenotypes for gene: COL4A1 were changed from to Brain small vessel disease with or without ocular anomalies, MIM# 175780 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Brain Calcification v0.89 | COL4A1 | Zornitza Stark Mode of inheritance for gene: COL4A1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Brain Calcification v0.88 | COL4A1 | Zornitza Stark reviewed gene: COL4A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Brain small vessel disease with or without ocular anomalies, MIM# 175780; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Brain Calcification v0.0 | COL4A1 |
Zornitza Stark gene: COL4A1 was added gene: COL4A1 was added to Brain calcification_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: COL4A1 was set to Unknown |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||