Growth failure in early childhood
Region: ISCA-37406-Loss16p13.3 region (includes CREBBP) Loss
Comment on phenotypes: Previous phenotypes: PMID: 10573006 death in infancy, accessory spleens, hypoplastic left heart, abnormal pulmonary lobulation, renal agenesis (patient 1), severe neonatal seizures (patient 2). PMID 16783566: failure to thrive, life-threatening malformations, and/or critical infections, and all died in infancy (5 weeks, 7 months, and 9 months, respectivelyFrom Genetics Home Reference: short stature, moderate to severe intellectual disability, distinctive facial features, and broad thumbs and first toes;610543Created: 26 Mar 2024, 5:28 p.m. | Last Modified: 26 Mar 2024, 5:28 p.m.
Panel Version: 3.87
The required percent of overlap for this region has been changed from 80% to 60% following NHS Genomic Medicine Service approval.Created: 16 Mar 2022, 12:27 p.m. | Last Modified: 16 Mar 2022, 12:27 p.m.
Panel Version: 1.101
Following discussion with members of the Endocrine Specialist Group at the Webex call on 23.05.19, demoted this CNV from Green to Red because Clinical Indication R147 will be delivered by panel/exome.Created: 30 May 2019, 10:01 a.m.
Phenotypes for Region: ISCA-37406-Loss were changed from PMID: 10573006 death in infancy, accessory spleens, hypoplastic left heart, abnormal pulmonary lobulation, renal agenesis (patient 1), severe neonatal seizures (patient 2). PMID 16783566: failure to thrive, life-threatening malformations, and/or critical infections, and all died in infancy (5 weeks, 7 months, and 9 months, respectivelyFrom Genetics Home Reference: short stature, moderate to severe intellectual disability, distinctive facial features, and broad thumbs and first toes; 610543 to Chromosome 16p13.3 deletion syndrome, OMIM:610543
Required Overlap Percentage for ISCA-37406-Loss was changed from 80 to 60.
Region: isca-37406-loss has been classified as Red List (Low Evidence).
Region: ISCA-37406-Loss was added Region: ISCA-37406-Loss was added to Growth failure in early childhood. Sources: ClinGen,Expert Review Green Mode of inheritance for Region: ISCA-37406-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for Region: ISCA-37406-Loss were set to 16783566; 10573006 Phenotypes for Region: ISCA-37406-Loss were set to PMID: 10573006 death in infancy, accessory spleens, hypoplastic left heart, abnormal pulmonary lobulation, renal agenesis (patient 1), severe neonatal seizures (patient 2). PMID 16783566: failure to thrive, life-threatening malformations, and/or critical infections, and all died in infancy (5 weeks, 7 months, and 9 months, respectivelyFrom Genetics Home Reference: short stature, moderate to severe intellectual disability, distinctive facial features, and broad thumbs and first toes; 610543