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| Skeletal dysplasia v8.26 | H2AFY | Ida Ertmanska changed review comment from: Comment on list classification: There are at least 5 unrelated families reported in literature with individuals affected by Liebenberg syndrome (brachydactyly-elbow wrist dysplasia syndrome), harbouring heterozygous CNVs which affect the H2AFY promoter region. Both deletions and translocations have been reported. In addition, PMID: 30711920 Kragesteen et al., 2021 describe a mouse model supporting Pitx1 upregulation through H2afy promoter loss as the likely mechanism of disease. However, these structural variants would not be detected in the current NGS analysis pipeline and this gene should remain Amber for Skeletal dysplasia.; to: Comment on list classification: There are at least 5 unrelated families reported in literature with individuals affected by Liebenberg syndrome (brachydactyly-elbow wrist dysplasia syndrome), harbouring heterozygous CNVs which affect the H2AFY promoter region. Both deletions and translocations have been reported. In addition, PMID: 30711920 Kragesteen et al., 2021 describe a mouse model supporting Pitx1 upregulation through H2afy promoter loss as the likely mechanism of disease. However, these structural variants would not be detected in the current NGS analysis pipeline and H2AFY should remain Amber for Skeletal dysplasia. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v8.26 | H2AFY | Ida Ertmanska commented on gene: H2AFY: Comment on list classification: There are at least 5 unrelated families reported in literature with individuals affected by Liebenberg syndrome (brachydactyly-elbow wrist dysplasia syndrome), harbouring heterozygous CNVs which affect the H2AFY promoter region. Both deletions and translocations have been reported. In addition, PMID: 30711920 Kragesteen et al., 2021 describe a mouse model supporting Pitx1 upregulation through H2afy promoter loss as the likely mechanism of disease. However, these structural variants would not be detected in the current NGS analysis pipeline and this gene should remain Amber for Skeletal dysplasia. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v8.21 | H2AFY |
Julie Evans gene: H2AFY was added gene: H2AFY was added to Skeletal dysplasia. Sources: Literature Mode of inheritance for gene: H2AFY was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: H2AFY were set to PMID: 30711920, PMID: 23587911 Phenotypes for gene: H2AFY were set to Liebenberg syndrome Penetrance for gene: H2AFY were set to Complete Review for gene: H2AFY was set to GREEN Added comment: H2AFY promoter deletion causes PITX1 endoactivation and Liebenberg syndrome Sources: Literature |
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| Skeletal dysplasia v1.153 | PITX1 |
Eleanor Williams Added phenotypes Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly 119800; Liebenberg syndrome 186550 for gene: PITX1 Publications for gene PITX1 were changed from 23587911; 23022097 to 30459804; 23022097; 23587911 |
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| Skeletal dysplasia v1.147 | PITX1 | Tracy Lester reviewed gene: PITX1: Rating: GREEN; Mode of pathogenicity: ; Publications: 23587911, 23022097, 30459804; Phenotypes: Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly 119800, Liebenberg syndrome 186550; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.146 | PITX1 | Eleanor Williams reviewed gene: PITX1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.145 | PITX1 |
Eleanor Williams Source NHS GMS was added to PITX1. Rating Changed from Green List (high evidence) to Green List (high evidence) |
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