| Panel | Mode of inheritance | Details |
|---|---|---|
11 panels | ||
Component of the following Super Panels:
Signed-off version 9.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Retinopathy-sensory neuropathy syndrome, OMIM:609033, posterior column ataxia-retinitis pigmentosa syndrome, MONDO:0012177 |
R-numbers: R61 Signed-off version 9.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Neurodevelopmental disorder with microcephaly, absent speech, and hypotonia, OMIM:621060, neurodevelopmental disorder with microcephaly, absent speech, and hypotonia, MONDO:0976126 |
Green in DDG2PComponent of the following Super Panels:
Signed-off version 7.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes ATAXIA, POSTERIOR COLUMN, WITH RETINITIS PIGMENTOSA 609033 |
Green in Early onset or syndromic epilepsyComponent of the following Super Panels:
R-numbers: R59 Signed-off version 9.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Neurodevelopmental disorder with microcephaly, absent speech, and hypotonia, OMIM:621060, neurodevelopmental disorder with microcephaly, absent speech, and hypotonia, MONDO:0976126 |
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 7.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Neurodevelopmental disorder with microcephaly, absent speech, and hypotonia, OMIM:621060, neurodevelopmental disorder with microcephaly, absent speech, and hypotonia, MONDO:0976126 |
Component of the following Super Panels:
Signed-off version 9.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Retinopathy-sensory neuropathy syndrome, OMIM:609033, posterior column ataxia-retinitis pigmentosa syndrome, MONDO:0012177 |
R-numbers: R78 Signed-off version 8.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Ataxia, posterior column, with retinitis pigmentosa, OMIM:609033, posterior column ataxia-retinitis pigmentosa syndrome, MONDO:0012177 |
Green in Intellectual disabilityComponent of the following Super Panels:
R-numbers: R29 Signed-off version 10.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Neurodevelopmental disorder with microcephaly, absent speech, and hypotonia, OMIM:621060, neurodevelopmental disorder with microcephaly, absent speech, and hypotonia, MONDO:0976126 |
Green in Limb disordersComponent of the following Super Panels:
Signed-off version 8.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Neurodevelopmental disorder with microcephaly, absent speech, and hypotonia, OMIM:621060, neurodevelopmental disorder with microcephaly, absent speech, and hypotonia, MONDO:0976126 |
Green in Retinal disordersR-numbers: R32 Signed-off version 9.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Retinopathy-sensory neuropathy syndrome, OMIM:609033, posterior column ataxia-retinitis pigmentosa syndrome, MONDO:0012177 |
Green in Severe microcephalyR-numbers: R88 Signed-off version 9.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Neurodevelopmental disorder with microcephaly, absent speech, and hypotonia, OMIM:621060, neurodevelopmental disorder with microcephaly, absent speech, and hypotonia, MONDO:0976126 |