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  3. PRICKLE1
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Callosome

Gene: PRICKLE1

Red List (low evidence)
PRICKLE1 (prickle planar cell polarity protein 1)
EnsemblGeneIds (GRCh38): ENSG00000139174
EnsemblGeneIds (GRCh37): ENSG00000139174
OMIM: 608500, Gene2Phenotype
PRICKLE1 is in 11 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

ACC reported in one fetus that also had PMG.
Created: 27 Dec 2023, 4:35 a.m. | Last Modified: 27 Dec 2023, 4:35 a.m.
Panel Version: 0.510

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Neurodevelopmental disorder, MONDO:0700092, PRICKLE1-related

Publications

Created: 27 Dec 2023, 4:35 a.m.
Last Modified: 27 Dec 2023, 4:35 a.m.
Panel version: 0.510

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Neurodevelopmental disorder, MONDO:0700092, PRICKLE1-related
OMIM
608500
Clinvar variants
Variants in PRICKLE1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

27 Dec 2023, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: prickle1 has been classified as Red List (Low Evidence).

27 Dec 2023, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: PRICKLE1 were changed from to Neurodevelopmental disorder, MONDO:0700092, PRICKLE1-related

27 Dec 2023, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: PRICKLE1 were set to

27 Dec 2023, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: PRICKLE1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

27 Dec 2023, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: prickle1 has been classified as Red List (Low Evidence).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PRICKLE1 was added gene: PRICKLE1 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: PRICKLE1 was set to Unknown