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  3. PDCD6IP
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Fetal anomalies

Gene: PDCD6IP

Amber List (moderate evidence)
PDCD6IP (programmed cell death 6 interacting protein)
EnsemblGeneIds (GRCh38): ENSG00000170248
EnsemblGeneIds (GRCh37): ENSG00000170248
OMIM: 608074, Gene2Phenotype
PDCD6IP is in 4 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Microcephaly 29, primary, autosomal recessive, MIM# 620047

Created: 23 Sep 2022, 1:20 a.m.
Last Modified: 23 Sep 2022, 1:20 a.m.
Panel version: 1.69

Belinda Chong (Victorian Clinical Genetics Services)

I don't know

Primary microcephaly was noticed at birth and their occipital-frontal circumference (OFC) was ≤−2 standard deviations (SD), may be relevant for this panel however, currently not enough information.

One consanguineous family with 2 affected sibs with primary microcephaly (-4SD), intellectual disability and short stature (-5/6SD), and homozygous frameshift variant in PDCD6IP. The homozygous variant was confirmed in both affected sibs, while the four healthy siblings and parents were heterozygous. The clinical features observed in the patients were similar to the phenotypes observed in mouse and zebrafish models of PDCD6IP mutations in previous studies.
Sources: Literature
Created: 2 Mar 2022, 4:26 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Primary microcephaly

Publications

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

Created: 2 Mar 2022, 4:26 a.m.

Panel version: 0.4532

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Microcephaly 29, primary, autosomal recessive, MIM# 620047
OMIM
608074
Clinvar variants
Variants in PDCD6IP
Penetrance
None
Publications
Panels with this gene

History Filter Activity

23 Sep 2022, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: PDCD6IP were changed from Primary microcephaly to Microcephaly 29, primary, autosomal recessive, MIM# 620047

2 Mar 2022, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: pdcd6ip has been classified as Amber List (Moderate Evidence).

2 Mar 2022, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: pdcd6ip has been classified as Amber List (Moderate Evidence).

2 Mar 2022, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Belinda Chong (Victorian Clinical Genetics Services)

gene: PDCD6IP was added gene: PDCD6IP was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: PDCD6IP was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PDCD6IP were set to 32286682 Phenotypes for gene: PDCD6IP were set to Primary microcephaly Review for gene: PDCD6IP was set to AMBER gene: PDCD6IP was marked as current diagnostic