DIAPH1

diaphanous related formin 1
OMIM: 602121
PanelMode of inheritanceDetails
5 panels
R-numbers: R90
Signed-off version 1.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
(NO OMIM NUMBER), 124900 Macrothrombocytopenia and hearing loss, Macrothrombocytopenia and hearing loss
R-numbers: R59
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Seizures, cortical blindness, microcephaly syndrome, MIM:616632
Green
in Hearing loss
R-numbers: R67
Signed-off version 2.5
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Nonsyndromic Hearing Loss, Mixed, Deafness, autosomal dominant 1, 124900, hearing loss
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 3.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Seizures, cortical blindness, microcephaly syndrome, 616632, developmental delay, intellectual disability
R-numbers: R88
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
microcephaly, blindness and early onset seizures, severe visual impairment, intellectual disability, and short stature, Seizures, cortical blindness, microcephaly syndrome, 616632