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  3. OPHN1
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Cerebellar hypoplasia

Gene: OPHN1

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

2 reviews

Alice Gardham (Genomics England)

Comment when marking as ready: Identified in at least 8 different families. Confirmed DD on G2P. Eligibility statement for recruitment. On UKGTN cerebral malformation and cerebellar ataxia panels
Created: 3 Nov 2016, 10:38 a.m.
Created: 3 Nov 2016, 10:16 a.m.

Panel version: 0.49

Ellen McDonagh (Genomics England Curator)

Mode of inheritance sourced from OMIM: X-linked recessive. Phenotype sourced from OMIM.
Created: 8 Jan 2016, 10:08 a.m.
Created: 8 Jan 2016, 10:08 a.m.

Panel version: 0.7

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • Other
  • Eligibility statement prior genetic testing
Phenotypes
  • Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance
  • XLMR with Cerebellar Hypoplasia and Distinctive Facial Appearance
  • Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance, 300486
OMIM
300127
Clinvar variants
Variants in OPHN1
Penetrance
Complete
Panels with this gene

History Filter Activity

22 Feb 2017, Gel status: 4

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

22/02/2017: Panel revised after internal clinical review and further curation.

3 Nov 2016, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

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

3 Nov 2016, Gel status: 2

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Amber List (Moderate Evidence).

11 May 2016, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

OPHN1 was added to Cerebellar hypoplasiapanel. Source: Radboud University Medical Center, Nijmegen

11 May 2016, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

OPHN1 was added to Cerebellar hypoplasiapanel. Source: Emory Genetics Laboratory

8 Jan 2016, Gel status: 0

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for gene OPHN1 were set to Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance

8 Jan 2016, Gel status: 0

Upload gene information

Ellen McDonagh (Genomics England Curator)

OPHN1 was added to Cerebellar hypoplasiapanel. Sources: Other

8 Jan 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

OPHN1 was created by ellenmcdonagh

8 Jan 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

OPHN1 was added to Cerebellar hypoplasiapanel. Sources: Eligibility statement prior genetic testing