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Mendeliome

Gene: PCDH12

Green List (high evidence)

PCDH12 (protocadherin 12)
EnsemblGeneIds (GRCh38): ENSG00000113555
EnsemblGeneIds (GRCh37): ENSG00000113555
OMIM: 605622, Gene2Phenotype
PCDH12 is in 10 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Diencephalic-mesencephalic junction dysplasia syndrome-1 (DMJDS1) is an autosomal recessive neurodevelopmental disorder characterized by progressive microcephaly, severely delayed or even absent psychomotor development with profound intellectual disability, and spasticity or dystonia. Some patients may have seizures and/or visual impairment. Brain imaging shows a characteristic developmental malformation of the midbrain; subtle intracranial calcifications may also be present. At least 12 families reported.
Created: 16 May 2022, 8:53 a.m. | Last Modified: 16 May 2022, 8:53 a.m.
Panel Version: 0.14398

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Diencephalic-mesencephalic junction dysplasia syndrome 1, MIM# 251280

Publications

Bryony Thompson (Royal Melbourne Hospital)

Red List (low evidence)

A homozygous nonsense variant identified in a single sib pair of Indian origin born of a consanguineous parentage, with a phenotype including ataxia.
Created: 17 Apr 2020, 3:18 a.m. | Last Modified: 17 Apr 2020, 3:18 a.m.
Panel Version: 0.180

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
  • GeneReviews
  • Victorian Clinical Genetics Services
Phenotypes
  • Diencephalic-mesencephalic junction dysplasia syndrome 1, MIM# 251280
OMIM
605622
Clinvar variants
Variants in PCDH12
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: pcdh12 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: PCDH12 were changed from to Diencephalic-mesencephalic junction dysplasia syndrome 1, MIM# 251280

16 May 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: PCDH12 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: PCDH12 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PCDH12 was added gene: PCDH12 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: PCDH12 was set to Unknown