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Intellectual disability syndromic and non-syndromic

Gene: DIAPH1

Green List (high evidence)

DIAPH1 (diaphanous related formin 1)
EnsemblGeneIds (GRCh38): ENSG00000131504
EnsemblGeneIds (GRCh37): ENSG00000131504
OMIM: 602121, Gene2Phenotype
DIAPH1 is in 14 panels

3 reviews

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

At least 9 families with homozygous LoF variants with ID as a prominent feature of the condition
Created: 24 Sep 2024, 10:42 a.m. | Last Modified: 24 Sep 2024, 10:42 a.m.
Panel Version: 0.6222

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
progressive microcephaly-seizures-cortical blindness-developmental delay syndrome MONDO:0014714

Publications

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Three unrelated families reported.
Created: 13 Sep 2024, 6:56 a.m. | Last Modified: 13 Sep 2024, 6:56 a.m.
Panel Version: 0.6219

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
progressive microcephaly-seizures-cortical blindness-developmental delay syndrome MONDO:0014714

Ken Lee Wan (Monash Health)

I don't know

Seizures, cortical blindness, and microcephaly syndrome (SCBMS) is an autosomal recessive neurodevelopmental disorder characterized by microcephaly, early-onset seizures, severely delayed psychomotor development and cortical blindness. Affected individuals also tend to show poor overall growth with short stature (MIM: 616632).

Biallelic loss-of-function DIAPH1 variants have been reported in 3 Middle Eastern consanguineous families with a unique syndrome of early onset seizures, progressive microcephaly, intellectual disability and severe visual impairment (PMIDs: 24781755; 26463574). Western blot analysis showed lack of the mDia1 protein for affected individuals (PMID: 24781755).
Created: 13 Sep 2024, 1:20 a.m. | Last Modified: 13 Sep 2024, 6:07 a.m.
Panel Version: 0.6215

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
progressive microcephaly-seizures-cortical blindness-developmental delay syndrome MONDO:0014714

Publications

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genetic Health Queensland
Phenotypes
  • progressive microcephaly-seizures-cortical blindness-developmental delay syndrome MONDO:0014714
OMIM
602121
Clinvar variants
Variants in DIAPH1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

24 Sep 2024, Gel status: 3

Set publications

Bryony Thompson (Royal Melbourne Hospital)

Publications for gene: DIAPH1 were set to 24781755; 26463574

13 Sep 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: diaph1 has been classified as Green List (High Evidence).

13 Sep 2024, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: DIAPH1 were changed from to progressive microcephaly-seizures-cortical blindness-developmental delay syndrome MONDO:0014714

13 Sep 2024, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: DIAPH1 were set to 24781755; 26463574

13 Sep 2024, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: DIAPH1 were set to

13 Sep 2024, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: DIAPH1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: DIAPH1 was added gene: DIAPH1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: DIAPH1 was set to Unknown