Genomics England
GMS Panels
Panels
Genes and Entities

NHS

NHS actin remodeling regulator
OMIM: 300457
PanelMode of inheritanceDetails
5 panels
Green
in Bilateral congenital or childhood onset cataracts
R-numbers: R31
Signed-off version 4.14
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Nance-Horan syndrome, 302350, Nance-Horan syndrome MIMID, Cataract congenital X-linked, cataract congenital X-linked, Nance-Horan syndrome, Nance-Horan syndrome, 302350, X-linked cataracts
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.3
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
NANCE-HORAN SYNDROME 302350, CATARACT CONGENITAL X-LINKED 302200
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 4.0
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
CATARACT CONGENITAL X-LINKED, NANCE-HORAN SYNDROME
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 6.13
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Nance-Horan syndrome, 302350Cataract 40, X-linked, 302200, NANCE-HORAN SYNDROME (NHS)
Green
in Structural eye disease
R-numbers: R36
Signed-off version 3.79
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Nance-Horan syndrome, 302350, Cataract 40, X-linked, 302200