Activity
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| Monogenic short stature v2.11 | ANAPC1 | Ida Ertmanska edited their review of gene: ANAPC1: Changed phenotypes to: Rothmund Thomson syndrome type 1, OMIM:618625, Rothmund-Thomson syndrome type 1, MONDO:0016368 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic short stature v2.11 | ANAPC1 | Ida Ertmanska Publications for gene: ANAPC1 were set to 31303264 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic short stature v2.10 | ANAPC1 | Ida Ertmanska Phenotypes for gene: ANAPC1 were changed from Rothmund Thomson syndrome type 1, OMIM:618625 to Rothmund Thomson syndrome type 1, OMIM:618625; Rothmund-Thomson syndrome type 1, MONDO:0016368 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic short stature v2.9 | ANAPC1 | Ida Ertmanska reviewed gene: ANAPC1: Rating: ; Mode of pathogenicity: None; Publications: 38021400, 42210937; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic short stature v2.9 | ANAPC1 | Ida Ertmanska Deleted their review | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic short stature v2.9 | ANAPC1 | Ida Ertmanska Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic short stature v2.9 | ANAPC1 | Ida Ertmanska edited their review of gene: ANAPC1: Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic short stature v2.9 | ANAPC1 |
Ida Ertmanska changed review comment from: PMID: 42210937 Huang et al., 2026 Report of a milder case of a 29-year-old man who presented with lifelong sparse, fine scalp hair, bilateral malar erythema, soft fingernails, and dental anomalies (malocclusion with multiple caries). WES identified a heterozygous ANAPC1 (NM_022662.4:c.4907T>C, p.Val1636Ala) variant - 13 hets reported in gnomAD v4 (East Asian pop). PMID: 38021400 Martins et al., 2023 Literature review of Rothmund-Thomson syndrome cases. 11 individuals with biallelic ANAPC1 variants from 8 families are included. While short stature is noted in 7/11 patients, severity is not stated. Microcephaly is marked as 'not reported'. Ectodermal dysplasia findings: Poikiloderma (generalized) in 11/11 patients, Sparse hair/eyebrows and/or eyelashes noted in 10/11, and nail dysplasia was seen in 5/11 assessed probands. 10 individuals had juvenile cataracts.; to: PMID: 42210937 Huang et al., 2026 Report of a milder case of a 29-year-old man who presented with lifelong sparse, fine scalp hair, bilateral malar erythema, soft fingernails, and dental anomalies (malocclusion with multiple caries). WES identified a heterozygous ANAPC1 (NM_022662.4:c.4907T>C, p.Val1636Ala) variant - 13 hets reported in gnomAD v4 (East Asian pop). PMID: 38021400 Martins et al., 2023 Literature review of Rothmund-Thomson syndrome cases. 11 individuals with biallelic ANAPC1 variants from 8 families are included. While short stature is noted in 7/11 patients, severity is not stated. Microcephaly is marked as 'not reported'. Ectodermal dysplasia findings: Poikiloderma (generalized) in 11/11 patients, Sparse hair/eyebrows and/or eyelashes noted in 10/11, and nail dysplasia was seen in 5/11 assessed probands. 10 individuals had juvenile cataracts. Growth hormone deficiency was diagnosed in 5/10 probands. |
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| Monogenic short stature v2.9 | ANAPC1 | Ida Ertmanska edited their review of gene: ANAPC1: Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic short stature v2.9 | ANAPC1 | Ida Ertmanska edited their review of gene: ANAPC1: Changed rating: GREEN; Changed publications to: 31303264, 35664819, 38021400, 42210937 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic short stature v2.9 | ANAPC1 |
Ida Ertmanska changed review comment from: PMID: 42210937 Huang et al., 2026 Report of a milder case of a 29-year-old man who presented with lifelong sparse, fine scalp hair, bilateral malar erythema, soft fingernails, and dental anomalies (malocclusion with multiple caries). WES identified ANAPC1 (NM_022662.4:c.4907T>C, p.Val1636Ala) variant. PMID: 38021400 Martins et al., 2023 Literature review of Rothmund-Thomson syndrome cases. 11 individuals with biallelic ANAPC1 variants from 8 families are included. While short stature is noted in 7/11 patients, severity is not stated. Microcephaly is marked as 'not reported'. Ectodermal dysplasia findings: Poikiloderma (generalized) in 11/11 patients, Sparse hair/eyebrows and/or eyelashes noted in 10/11, and nail dysplasia was seen in 5/11 assessed probands. 10 individuals had juvenile cataracts.; to: PMID: 42210937 Huang et al., 2026 Report of a milder case of a 29-year-old man who presented with lifelong sparse, fine scalp hair, bilateral malar erythema, soft fingernails, and dental anomalies (malocclusion with multiple caries). WES identified a heterozygous ANAPC1 (NM_022662.4:c.4907T>C, p.Val1636Ala) variant - 13 hets reported in gnomAD v4 (East Asian pop). PMID: 38021400 Martins et al., 2023 Literature review of Rothmund-Thomson syndrome cases. 11 individuals with biallelic ANAPC1 variants from 8 families are included. While short stature is noted in 7/11 patients, severity is not stated. Microcephaly is marked as 'not reported'. Ectodermal dysplasia findings: Poikiloderma (generalized) in 11/11 patients, Sparse hair/eyebrows and/or eyelashes noted in 10/11, and nail dysplasia was seen in 5/11 assessed probands. 10 individuals had juvenile cataracts. |
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| Monogenic short stature v2.9 | ANAPC1 | Ida Ertmanska reviewed gene: ANAPC1: Rating: RED; Mode of pathogenicity: None; Publications: 38021400, 42210937; Phenotypes: Rothmund-Thomson syndrome, type 1, OMIM:618625, Rothmund-Thomson syndrome type 1, MONDO:0016368; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic short stature v0.3 | ANAPC1 | Arina Puzriakova Entity copied from Growth failure in early childhood v3.76 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic short stature v0.3 | ANAPC1 |
Arina Puzriakova gene: ANAPC1 was added gene: ANAPC1 was added to Monogenic short stature. Sources: Expert Review Green,Literature Mode of inheritance for gene: ANAPC1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ANAPC1 were set to 31303264 Phenotypes for gene: ANAPC1 were set to Rothmund Thomson syndrome type 1, OMIM:618625 |
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