| Panel | Mode of inheritance | Details |
|---|---|---|
7 panels | ||
Green in CleftingComponent of the following Super Panels:
Signed-off version 6.3 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes OROFACIODIGITAL SYNDROME XIV, OFD14 |
Green in DDG2PComponent of the following Super Panels:
Signed-off version 5.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes OROFACIODIGITAL SYNDROME XIV 615948 |
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 5.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Orofaciodigital syndrome XIV, OMIM:615948, Orofaciodigital syndrome type 14, MONDO:0014413 |
Green in Intellectual disabilityComponent of the following Super Panels:
R-numbers: R29 Signed-off version 8.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Orofaciodigital syndrome XIV, 615948, Joubert-related disorder |
Green in Neurological ciliopathiesComponent of the following Super Panels:
Signed-off version 5.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes short-rib polydactyly syndromes (SRPS, MIM208500), MIM 613091, 263520), Jeune asphyxiating thoracic dystrophy (JATD, ?Orofaciodigital syndrome XIV, 615948, Orofaciodigital syndromes (OFDS, MIM 311200) |
Green in Skeletal ciliopathiesComponent of the following Super Panels:
Signed-off version 5.1 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes short-rib polydactyly syndromes (SRPS, MIM208500), MIM 613091, 263520), Jeune asphyxiating thoracic dystrophy (JATD, ?Orofaciodigital syndrome XIV, 615948, Orofaciodigital syndromes (OFDS, MIM 311200) |
Green in Skeletal dysplasiaComponent of the following Super Panels:
R-numbers: R104 Signed-off version 7.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Orofaciodigital syndrome XIV 615948 |