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| IUGR and IGF abnormalities v1.29 | AMMECR1 | Ivone Leong Classified gene: AMMECR1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| IUGR and IGF abnormalities v1.29 | AMMECR1 | Ivone Leong Added comment: Comment on list classification: New gene added by reviewer. This gene is associated with a phenotype in OMIM but not in Gene2Phenotype. This gene has been given a green status based on reviewer provided evidence, which supports a gene-disease association. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| IUGR and IGF abnormalities v1.29 | AMMECR1 | Ivone Leong Gene: ammecr1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| IUGR and IGF abnormalities v1.28 | AMMECR1 | Ivone Leong Phenotypes for gene: AMMECR1 were changed from Short stature; Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis to Short stature; Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis, 300990 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| IUGR and IGF abnormalities v1.27 | AMMECR1 | Ivone Leong Publications for gene: AMMECR1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| IUGR and IGF abnormalities v1.26 | AMMECR1 |
Julia Baptista changed review comment from: Basel-Vanagaite et al reported a boy with short stature (−3SD), low weight(−4SD), normal OFC (+1SD) and dysmorphic features (PMID: 28089922). Maternal half-brothers reported by Andreoletti et al. (2017) also had short stature (below the 0.4th centile) and midface hypoplasia. Short stature was also reported by Moyses-Oliveira et al in patients with loss-of-function AMMECR1 alleles due to nonsense variants, gene deletion and a translocation.; to: Basel-Vanagaite et al reported a boy with short stature (−3SD), low weight(−4SD), normal OFC (+1SD) and dysmorphic features (PMID: 28089922). Maternal half-brothers reported by Andreoletti et al. (2017) also had short stature (below the 0.4th centile) and midface hypoplasia. Short stature was also reported by Moyses-Oliveira et al in patients with loss-of-function AMMECR1 alleles due to nonsense variants, gene deletion and a translocation. (PMID: 29193635) |
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| IUGR and IGF abnormalities v1.26 | AMMECR1 |
Julia Baptista edited their review of gene: AMMECR1: Added comment: Basel-Vanagaite et al reported a boy with short stature (−3SD), low weight(−4SD), normal OFC (+1SD) and dysmorphic features (PMID: 28089922). Maternal half-brothers reported by Andreoletti et al. (2017) also had short stature (below the 0.4th centile) and midface hypoplasia. Short stature was also reported by Moyses-Oliveira et al in patients with loss-of-function AMMECR1 alleles due to nonsense variants, gene deletion and a translocation.; Changed publications: PMID: 29193635, 28089922, 27811305; Changed phenotypes: Short stature, midface hypoplasia, hearing impairment, elliptocytosis, nephrocalcinosis |
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| IUGR and IGF abnormalities v1.26 | AMMECR1 |
Julia Baptista gene: AMMECR1 was added gene: AMMECR1 was added to IUGR and IGF abnormalities. Sources: Literature Mode of inheritance for gene: AMMECR1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: AMMECR1 were set to Short stature; Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis Review for gene: AMMECR1 was set to GREEN Added comment: Sources: Literature |
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