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  3. DIAPH1
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Intellectual disability

Gene: DIAPH1

Green List (high evidence)
DIAPH1 (diaphanous related formin 1)
EnsemblGeneIds (GRCh38): ENSG00000131504
EnsemblGeneIds (GRCh37): ENSG00000131504
OMIM: 602121, Gene2Phenotype
DIAPH1 is in 12 panels

1 review

Rebecca Foulger (Genomics England curator)

PMID:26463574 report 2 unrelated families with phenotypes including microcephaly and developmental delay in both probands, and homozygous mutations (1 frameshift, 1 missense) in DIAPH1.
Created: 2 Mar 2017, 4:55 p.m.
PMID:24781755 report a consanguineous Saudi Arabian pedigree with a novel syndromic form of MCP, involving small head size, ID, seizures, short stature, and blindness. They identified a nonsense homozygous DIAPH1 variant (c.2332C>T, Q778*) in the family. The presence of the heterozygous sequence variant in both parents was confirmed.
Created: 2 Mar 2017, 4:54 p.m.
Comment on list classification: Updated rating from Red to Green: 3 unrelated cases of homozygous DIAPH1 variants and microcephaly + intellectual disability/developmental delay.
Created: 2 Mar 2017, 4:54 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Seizures, cortical blindness, microcephaly syndrome, 616632; developmental delay; intellectual disability

Publications

Created: 2 Mar 2017, 4:55 p.m.

Panel version: 1.72

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
Phenotypes
  • Seizures, cortical blindness, microcephaly syndrome, 616632
  • developmental delay
  • intellectual disability
OMIM
602121
Clinvar variants
Variants in DIAPH1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

12 Mar 2018, Gel status: 3

Panel promoted to version 2.0

Ellen McDonagh (Genomics England Curator)

12.03.2018: Due to major updates completed (Phase 1, 2 and 3), this panel was promoted to Version 2 in order to reflect the major updates since November 2017 which have resulted in reviews for 836 genes added by Genomics England Curators and the Clinical Team, 130 new Green genes added to the interpretation pipeline (from 751 to 881 Green genes), and the gene total has increased from 1879 to 1927.

2 Mar 2017, Gel status: 4

Gene classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

This gene has been classified as Green List (High Evidence).

2 Mar 2017, Gel status: 0

Added New Source

Rebecca Foulger (Genomics England curator)

DIAPH1 was added to Intellectual disabilitypanel. Sources: Other

2 Mar 2017, Gel status: 0

Created

Rebecca Foulger (Genomics England curator)

DIAPH1 was created by rfoulger