Panel | Mode of inheritance | Details |
---|---|---|
9 panels | ||
Green in ArthrogryposisR-numbers: R83 Signed-off version 7.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Cockayne syndrome, type B 133540 |
R-numbers: R31 Signed-off version 5.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Cockayne syndrome type B, UV-sensitivesyndrome 1, Cerebrooculofacioskeletalsyndrome 1 |
Green in DDG2PComponent of the following Super Panels:
Signed-off version 4.6 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes DE SANCTIS-CACCHIONE SYNDROME 278800, UV-SENSITIVE SYNDROME 609413, CEREBRO-OCULO-FACIO-SKELETAL SYNDROME TYPE 1 214150, COCKAYNE SYNDROME TYPE B 133540 |
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 4.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes UV-SENSITIVE SYNDROME, CEREBRO-OCULO-FACIO-SKELETAL SYNDROME TYPE 1, COCKAYNE SYNDROME TYPE B, DE SANCTIS-CACCHIONE SYNDROME |
Green in Intellectual disabilityComponent of the following Super Panels:
R-numbers: R29 Signed-off version 7.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes De Sanctis-Cacchione syndrome, OMIM:278800 |
Green in Retinal disordersR-numbers: R32 Signed-off version 6.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Cockayne syndrome, type B, OMIM:133540 |
Green in Severe microcephalyR-numbers: R88 Signed-off version 6.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Cockayne syndrome, type B, 133540 (Microcephaly) |
Component of the following Super Panels:
Signed-off version 5.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes De Sanctis-Cacchione syndrome, PMID: 26204423, Cockayne syndrome, UV-sensitive syndrome, Cockayne syndrome phenotype and UV-sensitive syndrome, Cockayne syndrome B, UV-sensitive syndrome 1, Intercranial Calcifications, Cockayne syndrome, type B, General Leukodystrophy & Mitochondrial Leukoencephalopathy |
R-numbers: R227 Signed-off version 3.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Cockayne syndrome, type B, Cockayne syndrome phenotype and UV-sensitive syndrome, PMID: 26204423, Cockayne syndrome B, De Sanctis-Cacchione syndrome, UV-sensitive syndrome 1 |