Genomics England
GMS Panels
Panels
Genes and Entities

LRP2

LDL receptor related protein 2
OMIM: 600073
PanelMode of inheritanceDetails
5 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.15
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
DONNAI-BARROW SYNDROME, OMIM:222448, INTELLECTUAL DISABILITY, OMIM:616579
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 4.195
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
DONNAI-BARROW SYNDROME
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 7.51
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Donnai-Barrow syndrome, 222448, INTELLECTUAL DISABILITY
Green
in Retinal disorders
R-numbers: R32
Signed-off version 6.16
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Donnai-Barrow syndrome 222448
Green
in Structural eye disease
R-numbers: R36
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Donnai-Barrow syndrome, 222448