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Severe microcephaly v9.18 PDCD6IP Ida Ertmanska Publications for gene: PDCD6IP were set to 32286682; 40897677
Severe microcephaly v9.17 PDCD6IP Ida Ertmanska edited their review of gene: PDCD6IP: Changed phenotypes to: ?Microcephaly 29, primary, autosomal recessive, OMIM:620047, microcephaly 29, primary, autosomal recessive, MONDO:0031060
Severe microcephaly v9.17 PDCD6IP Ida Ertmanska edited their review of gene: PDCD6IP: Changed publications to: 28322231, 32286682, 40897677
Severe microcephaly v9.17 PDCD6IP Ida Ertmanska changed review comment from: Comment on list classification: There are now 2 unrelated probands with severe microcephaly (1 progressive post-natally). A supportive animal model recaptiulating microcephaly is also available. Hence, this gene can now be promoted to Green.; to: Comment on list classification: There are now 2 unrelated probands with severe microcephaly (1 progressive post-natally). A supportive mouse model recapitulating microcephaly is also available (PMID: 28322231, old gene name Alix). Hence, this gene can now be promoted to Green.
Severe microcephaly v9.17 PDCD6IP Ida Ertmanska commented on gene: PDCD6IP: Comment on list classification: There are now 2 unrelated probands with severe microcephaly (1 progressive post-natally). A supportive animal model recaptiulating microcephaly is also available. Hence, this gene can now be promoted to Green.
Severe microcephaly v9.17 PDCD6IP Ida Ertmanska Added comment: Comment on phenotypes: OMIM phenotype updated 13th Aug 2026.
Severe microcephaly v9.17 PDCD6IP Ida Ertmanska Phenotypes for gene: PDCD6IP were changed from Primary microcephaly to ?Microcephaly 29, primary, autosomal recessive, OMIM:620047; microcephaly 29, primary, autosomal recessive, MONDO:0031060
Severe microcephaly v9.16 PDCD6IP Ida Ertmanska Publications for gene: PDCD6IP were set to 32286682
Severe microcephaly v9.15 PDCD6IP Ida Ertmanska Tag watchlist was removed from gene: PDCD6IP.
Tag Q3_26_promote_green tag was added to gene: PDCD6IP.
Severe microcephaly v9.15 PDCD6IP Ida Ertmanska changed review comment from: PMID: 40897677 D'Alessio et al., 2025
Report of a male individual with mild intellectual disability and microcephaly carrying a homozygous nonsense variant in PDCD6IP: NM_013374.6 c.964C>T p.(Arg322*). Heterozygous family members unaffected. Additional features of strabismus and thrombocytopenia was also noted. Proband OFC listed as 52.7cm (−2.5 SD) in table 1. At birth, his OFC was 34 cm (−0.78 SD), but at age 25 yrs, his OFC was 51.6 cm (−3.1 SD).; to: PMID: 40897677 D'Alessio et al., 2025
Report of a male individual with mild intellectual disability and acquired microcephaly carrying a homozygous nonsense variant in PDCD6IP: NM_013374.6 c.964C>T p.(Arg322*). Heterozygous family members unaffected. Additional features of strabismus and thrombocytopenia was also noted. No seizures present. Proband OFC listed as 52.7cm (−2.5 SD) in table 1. At birth, his OFC was 34 cm (−0.78 SD), but at age 25 yrs, his OFC was 51.6 cm (−3.1 SD).
Severe microcephaly v9.15 PDCD6IP Ida Ertmanska reviewed gene: PDCD6IP: Rating: GREEN; Mode of pathogenicity: None; Publications: 40897677; Phenotypes: ?Microcephaly 29, primary, autosomal recessive, OMIM:620047; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Severe microcephaly v2.202 PDCD6IP Arina Puzriakova Tag watchlist tag was added to gene: PDCD6IP.
Severe microcephaly v2.202 PDCD6IP Arina Puzriakova Classified gene: PDCD6IP as Amber List (moderate evidence)
Severe microcephaly v2.202 PDCD6IP Arina Puzriakova Added comment: Comment on list classification: Phenotype is relevant to this panel with a supportive animal model that recapitulates features such as microcephaly. However, additional cases required to validate pathogenicity prior to inclusion as diagnostic-grade. Therefore Rating Amber, awaiting further publications.
Severe microcephaly v2.202 PDCD6IP Arina Puzriakova Gene: pdcd6ip has been classified as Amber List (Moderate Evidence).
Severe microcephaly v2.20 PDCD6IP Zornitza Stark gene: PDCD6IP was added
gene: PDCD6IP was added to Severe microcephaly. Sources: Expert list
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
Added comment: 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. Borderline Red/Amber rating in view of the supportive animal model data.
Sources: Expert list