LAMA1

laminin subunit alpha 1
OMIM: 150320
PanelMode of inheritanceDetails
5 panels
R-numbers: R39
Signed-off version 2.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Poretti-Boltshauser syndrome, OMIM:615960
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
CEREBELLAR DYSPLASIA WITH CYSTS WITH OR WITHOUT RETINAL DYSTROPHY 615960, AUTOSOMAL RECESSIVE MENTAL RETARDATION
R-numbers: R21, R412
Signed-off version 2.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
CEREBELLAR DYSPLASIA WITH CYSTS WITH OR WITHOUT RETINAL DYSTROPHY, AUTOSOMAL RECESSIVE MENTAL RETARDATION
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 4.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Poretti-Boltshauser syndrome OMIM:615960, ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome MONDO:0014419
R-numbers: R32
Signed-off version 3.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Poretti-Boltshauser syndrome, OMIM:615960