Genomics England

LAMA1

laminin subunit alpha 1

Panel	Mode of inheritance	Details
Filter panels8 panels
Green in Albinism or congenital nystagmus R-numbers: R39 Signed-off version 3.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Poretti-Boltshauser syndrome, OMIM:615960
Green in Ataxia and cerebellar anomalies - narrow panel Component of the following Super Panels: - Hereditary ataxia and cerebellar anomalies - childhood onset Signed-off version 7.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Poretti-Boltshauser syndrome OMIM:615960, ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome MONDO:0014419
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 5.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes CEREBELLAR DYSPLASIA WITH CYSTS WITH OR WITHOUT RETINAL DYSTROPHY 615960, AUTOSOMAL RECESSIVE MENTAL RETARDATION
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 5.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes CEREBELLAR DYSPLASIA WITH CYSTS WITH OR WITHOUT RETINAL DYSTROPHY, AUTOSOMAL RECESSIVE MENTAL RETARDATION
Green in Intellectual disability Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders R-numbers: R29 Signed-off version 8.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Poretti-Boltshauser syndrome OMIM:615960, ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome MONDO:0014419
Green in Neurological ciliopathies Component of the following Super Panels: - Hereditary ataxia and cerebellar anomalies - childhood onset - Paediatric disorders - Rare multisystem ciliopathy Super panel Signed-off version 5.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Poretti-Boltshauser syndrome OMIM:615960, ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome MONDO:0014419
Green in Ophthalmological ciliopathies Component of the following Super Panels: - Paediatric disorders - Rare multisystem ciliopathy Super panel Signed-off version 4.5	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Poretti-Boltshauser syndrome OMIM:615960, ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome MONDO:0014419
Green in Retinal disorders R-numbers: R32 Signed-off version 7.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Poretti-Boltshauser syndrome, OMIM:615960