| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Skeletal dysplasia v0.0 | ISCA-37394-Loss |
Zornitza Stark Region: ISCA-37394-Loss was added Region: ISCA-37394-Loss was added to Skeletal dysplasia. Sources: NHS GMS,ClinGen,Expert Review Green Mode of inheritance for Region: ISCA-37394-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for Region: ISCA-37394-Loss were set to 25402011; 23188045 Phenotypes for Region: ISCA-37394-Loss were set to 2q37 deletion syndrome is a condition that can affect many parts of the body. This condition is characterized by weak muscle tone (hypotonia) in infancy, mild to severe intellectual disability and developmental delay, behavioral problems, characteristic facial features, and other physical abnormalities. PMID 23188045 brachydactyly-mental retardation syndrome, Albright hereditary osteodystrophy-like syndrome, developmental delay and behavioural abnormalities in combination; 600430 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v0.0 | HDAC4 |
Zornitza Stark gene: HDAC4 was added gene: HDAC4 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,UKGTN,Expert Review Amber Mode of inheritance for gene: HDAC4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: HDAC4 were set to 15521982; 25402011; 19365831; 20691407 Phenotypes for gene: HDAC4 were set to Albright hereditary osteodystrophy-like syndrome; Albright hereditary osteodystrophy type 3, Albright hereditary osteodystrophy-like syndrome, Brachydactyly-intellectual disability, Del(2)(q37) 600430; Albright hereditary osteodystrophy type 3; Brachydactyly-intellectual disability; Del(2)(q37) 600430 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v0.0 | LBR |
Zornitza Stark gene: LBR was added gene: LBR was added to Skeletal dysplasia. Sources: Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green,UKGTN,Illumina TruGenome Clinical Sequencing Services Mode of inheritance for gene: LBR was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LBR were set to Pelger-Huet anomaly with mild skeletal anomalies 618019; Greenberg skeletal dysplasia 215140; Pelger-Huet anomaly 169400 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v0.0 | GNAS |
Zornitza Stark gene: GNAS was added gene: GNAS was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,NHS GMS,Expert Review Green Mode of inheritance for gene: GNAS was set to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed) Phenotypes for gene: GNAS were set to Pseudohypoparathyroidism Ia 103580; ACTH-independent macronodular adrenal hyperplasia 219080 IC; Pseudohypoparathyroidism Ib 603233; Pseudopseudohypoparathyroidism 612463; McCune-Albright syndrome, somatic, mosaic 174800; Pseudohypoparathyroidism Ic 612462; Osseous heteroplasia, progressive 166350 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||