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Intellectual disability v8.97 GEMIN4 Sarah Leigh Tag Q3_24_promote_green was removed from gene: GEMIN4.
Intellectual disability v8.97 GEMIN4 Sarah Leigh reviewed gene: GEMIN4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability v8.97 GEMIN4 Sarah Leigh Source NHS GMS was added to GEMIN4.
Source Expert Review Green was added to GEMIN4.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v6.68 GEMIN4 Achchuthan Shanmugasundram Classified gene: GEMIN4 as Amber List (moderate evidence)
Intellectual disability v6.68 GEMIN4 Achchuthan Shanmugasundram Added comment: Comment on list classification: There are 12 unrelated families and three different GEMIN4 variants reported in the literature. Hence, this gene can be promoted to green rating in the next GMS update.
Intellectual disability v6.68 GEMIN4 Achchuthan Shanmugasundram Gene: gemin4 has been classified as Amber List (Moderate Evidence).
Intellectual disability v6.67 GEMIN4 Achchuthan Shanmugasundram Phenotypes for gene: GEMIN4 were changed from Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities, 617913 to Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities, OMIM:617913
Intellectual disability v6.66 GEMIN4 Achchuthan Shanmugasundram Publications for gene: GEMIN4 were set to 25558065; 27878435
Intellectual disability v6.65 GEMIN4 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: GEMIN4.
Intellectual disability v6.65 GEMIN4 Achchuthan Shanmugasundram changed review comment from: PMID:35861185 provided a retrospective review of 16 patients from 11 unrelated Saudi consanguineous families with GEMIN4 variants., of which five patients were previously reported. Only two missense homozygous pathogenic variants (p.Pro105Leu and p.Trp818Arg) were reported in these patients, which suggests founder effect. All patients shared global developmental delay with variable ophthalmological, renal, and skeletal manifestations.

PMID:35052432 reported the identification of a novel homozygous variant (p.His147Arg) in two siblings from a consanguineous Saudi family. Both of them presented with global developmental delay, seizures, microcephaly and cataract.; to: PMID:35861185 provided a retrospective review of 16 patients from 11 unrelated Saudi consanguineous families with GEMIN4 variants., of which five patients were previously reported. Only two missense homozygous pathogenic variants (p.Pro105Leu and p.Trp818Arg) were reported in these patients, which suggests founder effect. All patients shared global developmental delay with variable ophthalmological, renal, and skeletal manifestations.

PMID:35052432 reported the identification of a novel homozygous variant (p.His147Arg) in two siblings from a consanguineous Saudi family. Both of them presented with global developmental delay, seizures, microcephaly and cataract.

This gene has been associated with relevant phenotypes in OMIM (MIM #617913) and Gene2Phenotype (with 'strong' rating on the DD panel).
Intellectual disability v6.65 GEMIN4 Achchuthan Shanmugasundram reviewed gene: GEMIN4: Rating: GREEN; Mode of pathogenicity: None; Publications: 35052432, 35861185; Phenotypes: Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities, OMIM:617913; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability v2.1017 GEMIN4 Ivone Leong Classified gene: GEMIN4 as Amber List (moderate evidence)
Intellectual disability v2.1017 GEMIN4 Ivone Leong Added comment: Comment on list classification: Promoted from red to amber based on new evidence. PMID: 27878435 reported on different variant found in a patient with cataracts, global developmental delay and ataxia.
Intellectual disability v2.1017 GEMIN4 Ivone Leong Gene: gemin4 has been classified as Amber List (Moderate Evidence).
Intellectual disability v2.1016 GEMIN4 Ivone Leong Publications for gene: GEMIN4 were set to 25558065
Intellectual disability v2.893 GEMIN4 Ivone Leong Tag founder-effect tag was added to gene: GEMIN4.
Intellectual disability v2.887 GEMIN4 Ivone Leong commented on gene: GEMIN4
Intellectual disability v2.886 GEMIN4 Ivone Leong Phenotypes for gene: GEMIN4 were changed from Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities to Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities, 617913
Intellectual disability v2.468 GEMIN4 Louise Daugherty Source Victorian Clinical Genetics Services was added to GEMIN4.
Intellectual disability GEMIN4 Zornitza Stark Added gene to panel