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Intellectual disability syndromic and non-syndromic

Gene: OPHN1

Green List (high evidence)

OPHN1 (oligophrenin 1)
EnsemblGeneIds (GRCh38): ENSG00000079482
EnsemblGeneIds (GRCh37): ENSG00000079482
OMIM: 300127, Gene2Phenotype
OPHN1 is in 11 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

OPHN1 variants cause ID, cerebellar hypoplasia and distinctive facial appearance, macrocephaly is a feature. At least 8 families reported.
Created: 16 May 2022, 9:01 a.m. | Last Modified: 16 May 2022, 9:01 a.m.
Panel Version: 0.4780

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance, MIM#300486

Publications

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Genetic Health Queensland
Phenotypes
  • Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance, MIM#300486
OMIM
300127
Clinvar variants
Variants in OPHN1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

16 May 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ophn1 has been classified as Green List (High Evidence).

16 May 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: OPHN1 were changed from to Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance, MIM#300486

16 May 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: OPHN1 were set to

16 May 2022, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: OPHN1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: OPHN1 was added gene: OPHN1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: OPHN1 was set to Unknown