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| Skeletal dysplasia v0.362 | ADAMTSL2 | Zornitza Stark Phenotypes for gene: ADAMTSL2 were changed from Geleophysic dysplasia 1 MIM#231050 to Geleophysic dysplasia 1 MIM#231050; Lethal short-limb skeletal dysplasia Al-Gazali type (OMIM %601356) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v0.361 | ADAMTSL2 | Zornitza Stark Publications for gene: ADAMTSL2 were set to 33369194; 26879370; 21415077 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v0.360 | ADAMTSL2 | Zornitza Stark edited their review of gene: ADAMTSL2: Added comment: PMID 36896612: 12 individuals reported with the severe end of the spectrum of ADAMTSL2-related skeletal dysplasia. The affected individuals presented with moderate intrauterine growth restriction, relative macrocephaly, hypertrichosis, large anterior fontanelle, short neck, short and stiff limbs with small hands and feet, severe brachydactyly, and generalized bone sclerosis with mild platyspondyly.; Changed publications: 33369194, 26879370, 21415077, 36896612; Changed phenotypes: Geleophysic dysplasia 1, MIM# 231050, Dermatosparaxic Ehlers Danlos syndrome, Lethal short-limb skeletal dysplasia Al-Gazali type (OMIM %601356) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v0.355 | ADAMTSL2 | Zornitza Stark Marked gene: ADAMTSL2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v0.355 | ADAMTSL2 | Zornitza Stark Gene: adamtsl2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v0.355 | ADAMTSL2 | Zornitza Stark Phenotypes for gene: ADAMTSL2 were changed from Geleophysic dysplasia 1 MIM#231050 to Geleophysic dysplasia 1 MIM#231050 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v0.354 | ADAMTSL2 | Zornitza Stark Phenotypes for gene: ADAMTSL2 were changed from Geleophysic dysplasia 1 231050 to Geleophysic dysplasia 1 MIM#231050 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v0.353 | ADAMTSL2 | Zornitza Stark Publications for gene: ADAMTSL2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v0.0 | ADAMTSL2 |
Zornitza Stark gene: ADAMTSL2 was added gene: ADAMTSL2 was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: ADAMTSL2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ADAMTSL2 were set to Geleophysic dysplasia 1 231050 |
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