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| Paediatric disorders - additional genes v0.24 | ABL1 | Helen Brittain Classified gene: ABL1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric disorders - additional genes v0.24 | ABL1 | Helen Brittain Added comment: Comment on list classification: Green on 100K criteria - pending higher level sign off for GMS indication | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric disorders - additional genes v0.24 | ABL1 | Helen Brittain Gene: abl1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric disorders - additional genes v0.23 | ABL1 |
Helen Brittain gene: ABL1 was added gene: ABL1 was added to Paediatric disorders - additional genes. Sources: Literature missense tags were added to gene: ABL1. Mode of inheritance for gene: ABL1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ABL1 were set to 28288113 Phenotypes for gene: ABL1 were set to Congenital heart defects and skeletal malformations syndrome 617602 Penetrance for gene: ABL1 were set to unknown Mode of pathogenicity for gene: ABL1 was set to Other Review for gene: ABL1 was set to GREEN Added comment: "4 unrelated families who exhibited dysmorphic facial features, congenital heart disease, skeletal abnormalities, joint problems, failure to thrive, gastrointestinal problems, and male genital anomalies. In younger children, dysmorphic features included broad forehead, small nose, deep-set eyes, and small chin, whereas in older patients, the face appeared elongated, with a narrow maxilla, long and narrow nose, and pointed chin. Common skeletal abnormalities included pectus excavatum, scoliosis, finger contractures, and hindfoot deformity. Congenital heart defects included atrial and ventricular septal defects, and in older patients, aortic root dilation." Sufficient cases for a green rating. Note that two missense variants have been reported to date - unclear on mode of pathogenicity. Sources: Literature |
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