Activity
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| Skeletal dysplasia v0.0 | ISCA-37418-Loss |
Zornitza Stark Region: ISCA-37418-Loss was added Region: ISCA-37418-Loss was added to Skeletal dysplasia. Sources: NHS GMS,ClinGen,Expert Review Green Mode of inheritance for Region: ISCA-37418-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for Region: ISCA-37418-Loss were set to Potocki-Lupski syndrome; Smith-Magenis syndrome; moderate intellectual disability, delayed speech and language skills, distinctive facial features, sleep disturbances, and behavioral problems; 182290; Structural cardiovascular anomalies (dilated aortic root, bicommissural aortic valve, atrial/ventricular and septal defects) and sleep disturbance; hypotonia, failure to thrive, mental retardation, pervasive developmental disorders, congenital anomalies; Dental abnormalities; hypotonia, poor feeding, failure to thrive, developmental delay particularly cognitive and language deficity, mild-moderate intellectual deficit, and neuropsychiatric disorders |
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| Skeletal dysplasia v0.0 | FBLIM1 |
Zornitza Stark gene: FBLIM1 was added gene: FBLIM1 was added to Skeletal dysplasia. Sources: NHS GMS Mode of inheritance for gene: FBLIM1 was set to Publications for gene: FBLIM1 were set to 29912021 Phenotypes for gene: FBLIM1 were set to Majeed syndrome (Chronic recurrent multifocal osteomyelitis with congenital dyserythropoietic anemia) 609628 |
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| Skeletal dysplasia v0.0 | RASGRP2 |
Zornitza Stark gene: RASGRP2 was added gene: RASGRP2 was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: RASGRP2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RASGRP2 were set to 18709451; 24958846 Phenotypes for gene: RASGRP2 were set to Bleeding disorder, platelet-type, 18 615888, also with osteopetrosis like bone abnormalities and neurodevelopmental defects; Bleeding disorder, platelet-type, 18 615888 |
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| Skeletal dysplasia v0.0 | LPIN2 |
Zornitza Stark gene: LPIN2 was added gene: LPIN2 was added to Skeletal dysplasia. Sources: Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green,Illumina TruGenome Clinical Sequencing Services Mode of inheritance for gene: LPIN2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LPIN2 were set to 29912021 Phenotypes for gene: LPIN2 were set to Majeed syndrome (Chronic recurrent multifocal osteomyelitis with congenital dyserythropoietic anemia) 609628 |
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| Skeletal dysplasia v0.0 | FLNA |
Zornitza Stark gene: FLNA was added gene: FLNA was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: FLNA was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Phenotypes for gene: FLNA were set to Frontometaphyseal dysplasia 305620; Otopalatodigital syndrome, type II -304120; Osteodysplasty Melnick Needles 309350 XLD; Melnick Needles syndrome 309350; Otopalatodigital syndrome, type II 304120 XLD; Frontometaphyseal dysplasia 305620 XLR; Terminal osseous dysplasia 300244; Otopalatodigital syndrome, type I -311300 |
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| Skeletal dysplasia v0.0 | EED |
Zornitza Stark gene: EED was added gene: EED was added to Skeletal dysplasia. Sources: NHS GMS,Literature,Expert Review Green Mode of inheritance for gene: EED was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: EED were set to 27868325; 25787343; 28229514; 27193220 Phenotypes for gene: EED were set to Cohen-Gibson syndrome 617561; Cohen-Gibson syndrome 617561 |
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