Genomics England
GMS Panels
Panels
Genes and Entities

BMP4

bone morphogenetic protein 4
OMIM: 112262
PanelMode of inheritanceDetails
6 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 5.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
MICROPHTHALMIA, SYNDROMIC 6 607932, OROFACIAL CLEFT 11 600625
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 5.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
MICROPHTHALMIA, SYNDROMIC 6, OROFACIAL CLEFT 11
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
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Microphthalmia, syndromic 6 607932, Global developmental delay
Green
in Limb disorders
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 6.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Polydactyly, Microphthalmia, syndromic 6 607932
Green
in Stickler syndrome
R-numbers: R45
Signed-off version 4.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Stickler syndrome, MONDO:0019354
Green
in Structural eye disease
R-numbers: R36
Signed-off version 4.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Orofacial cleft 11, 600625, Microphthalmia, syndromic 6, 607932, BMP4-Related Syndromic Microphthalmia