Inherited bleeding disorders

Gene: DIAPH1

Green List (high evidence)

DIAPH1 (diaphanous related formin 1)
EnsemblGeneIds (GRCh38): ENSG00000131504
EnsemblGeneIds (GRCh37): ENSG00000131504
OMIM: 602121, Gene2Phenotype
DIAPH1 is in 9 panels

2 reviews

Louise Daugherty (Genomics England Curator)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Macrothrombocytopenia and sensorineural hearing loss

Publications

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

Only gives a BPD if having a Gain of function variant PMID:26912466
Created: 19 Dec 2016, 11:18 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Macrothrombocytopenia and sensorineural hearing loss

Publications

Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • BRIDGE Study Tier 1 Gene
Phenotypes
  • Macrothrombocytopenia and sensorineural hearing loss
OMIM
602121
Clinvar variants
Variants in DIAPH1
Penetrance
Complete
Panels with this gene

History Filter Activity

19 Dec 2016, Gel status: 4

panel promoted to version 1

Louise Daugherty (Genomics England Curator)

Revised 19 December 2016

19 Dec 2016, Gel status: 4

Set Mode of Inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for DIAPH1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

19 Dec 2016, Gel status: 4

Set Mode of Inheritance, Added New Source

Louise Daugherty (Genomics England Curator)

DIAPH1 was added to Inherited bleeding disorderspanel. Source: Expert Review Green Model of inheritance for gene DIAPH1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

9 Sep 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

DIAPH1 was created by ellenmcdonagh

9 Sep 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

DIAPH1 was added to Inherited bleeding disorderspanel. Sources: BRIDGE Study Tier 1 Gene