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Microcephaly

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

Comment when marking as ready: Single family and animal models, upgrade to Amber.
Created: 1 Jul 2020, 9:41 a.m. | Last Modified: 1 Jul 2020, 9:41 a.m.
Panel Version: 0.135

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Created: 1 Jul 2020, 9:41 a.m.
Last Modified: 1 Jul 2020, 9:41 a.m.
Panel version: 1.152

Chirag Patel (Genetic Health Queensland)

Red List (low evidence)

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: 1 Jul 2020, 6:02 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Primary microcephaly

Publications

Created: 1 Jul 2020, 6:02 a.m.

Panel version: 0.132

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
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

1 Jul 2020, 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).

1 Jul 2020, 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).

1 Jul 2020, Gel status: 1

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

Chirag Patel (Genetic Health Queensland)

gene: PDCD6IP was added gene: PDCD6IP was added to Microcephaly. Sources: Literature Mode of inheritance for gene: PDCD6IP was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PDCD6IP were set to PMID: 32286682 Phenotypes for gene: PDCD6IP were set to Primary microcephaly Review for gene: PDCD6IP was set to RED