Genomics England
GMS Panels
Panels
Genes and Entities

SHANK3

SH3 and multiple ankyrin repeat domains 3
OMIM: 606230
PanelMode of inheritanceDetails
4 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
PHELAN-MCDERMID SYNDROME 606232
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 5.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Phelan-McDermid syndrome, OMIM:606232, Phelan-McDermid syndrome, MONDO:0011652
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, NOT imprinted
Phenotypes
Phelan-McDermid syndrome, 606232{Schizophrenia 15}, 613950, PHELAN-MCDERMID SYNDROME
Green
in Primary lymphoedema
R-numbers: R136
Signed-off version 3.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Phelan-McDermid syndrome 606232