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  3. POP1
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Intellectual disability syndromic and non-syndromic

Gene: POP1

Red List (low evidence)
POP1 (POP1 homolog, ribonuclease P/MRP subunit)
EnsemblGeneIds (GRCh38): ENSG00000104356
EnsemblGeneIds (GRCh37): ENSG00000104356
OMIM: 602486, Gene2Phenotype
POP1 is in 7 panels

2 reviews

Belinda Chong (Victorian Clinical Genetics Services)

I don't know

Skeletal dysplasia, characterized by prenatal rhizomelic shortening of limbs and generalized joint hypermobility. Affected individuals usually have normal neurodevelopmental milestones.

PMID 38351533: Presents three cases from the same family with likely pathogenic homozygous POP1 variant and a completely novel phenotype: a girl with global developmental delay and autism, microcephaly, peculiar dysmorphic features and multiple congenital anomalies. Expression of the RMRP was reduced in the proband compared with control and slightly reduced in both heterozygous parents, carriers for this variant.
Created: 7 Mar 2024, 12:23 a.m. | Last Modified: 7 Mar 2024, 12:23 a.m.
Panel Version: 0.5711

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Anauxetic dysplasia 2, MIM#617396

Publications

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

Created: 7 Mar 2024, 12:23 a.m.
Last Modified: 7 Mar 2024, 12:23 a.m.
Panel version: 0.5711

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Primarily a skeletal dysplasia, mild LD described in some but overall I don't think this is the right panel.
Created: 8 Dec 2019, 11:41 p.m. | Last Modified: 8 Dec 2019, 11:41 p.m.
Panel Version: 0.984

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Anauxetic dysplasia 2, MIM#617396

Created: 8 Dec 2019, 11:41 p.m.
Last Modified: 8 Dec 2019, 11:41 p.m.
Panel version: 0.984

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Genetic Health Queensland
Phenotypes
  • Anauxetic dysplasia 2, MIM#617396
OMIM
602486
Clinvar variants
Variants in POP1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

7 Mar 2024, Gel status: 1

Set publications

Ain Roesley (Victorian Clinical Genetics Services)

Publications for gene: POP1 were set to

8 Dec 2019, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: pop1 has been classified as Red List (Low Evidence).

8 Dec 2019, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: POP1 were changed from to Anauxetic dysplasia 2, MIM#617396

8 Dec 2019, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: POP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

8 Dec 2019, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: pop1 has been classified as Red List (Low Evidence).

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: POP1 was added gene: POP1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: POP1 was set to Unknown