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Mendeliome v2.0 ING1 Gene migrated from ENSG00000153487 to ENSG00000153487 (gene set migration)
Mendeliome v2.0 STING1 Gene symbol changed from TMEM173 to STING1 during gene set migration (ENSG00000184584 -> ENSG00000184584)
Mendeliome v1.4944 RING1 Sangavi Sivagnanasundram Phenotypes for gene: RING1 were changed from microcephaly; intellectual disability to complex neurodevelopmental disorder, MONDO:0100038
Mendeliome v1.4943 RING1 Sangavi Sivagnanasundram Publications for gene: RING1 were set to 29386386
Mendeliome v1.4942 RING1 Sangavi Sivagnanasundram Classified gene: RING1 as Green List (high evidence)
Mendeliome v1.4942 RING1 Sangavi Sivagnanasundram Gene: ring1 has been classified as Green List (High Evidence).
Mendeliome v1.4941 RING1 Sangavi Sivagnanasundram reviewed gene: RING1: Rating: GREEN; Mode of pathogenicity: None; Publications: 41653922; Phenotypes: complex neurodevelopmental disorder, MONDO:0100038; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v1.3446 RING1 Lucy Spencer reviewed gene: RING1: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder (MONDO:0700092), RING1-related; Mode of inheritance: None
Mendeliome v1.2883 TMEM173 Zornitza Stark Added comment: Comment when marking as ready: HGNC approved name is STING1
Mendeliome v0.12863 SERPING1 Zornitza Stark Marked gene: SERPING1 as ready
Mendeliome v0.12863 SERPING1 Zornitza Stark Gene: serping1 has been classified as Green List (High Evidence).
Mendeliome v0.12863 SERPING1 Zornitza Stark Phenotypes for gene: SERPING1 were changed from to Angioedema, hereditary, 1 and 2, MIM#106100; Complement component 4, partial deficiency of, MIM#120790
Mendeliome v0.12862 SERPING1 Zornitza Stark Publications for gene: SERPING1 were set to
Mendeliome v0.12861 SERPING1 Zornitza Stark Mode of inheritance for gene: SERPING1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.12787 SERPING1 Samantha Ayres reviewed gene: SERPING1: Rating: GREEN; Mode of pathogenicity: None; Publications: 35386643, 31517426, 29753808; Phenotypes: Angioedema, hereditary, 1 and 2, MIM#106100, Complement component 4, partial deficiency of, MIM#120790; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.10411 ING1 Zornitza Stark Phenotypes for gene: ING1 were changed from to Squamous cell carcinoma, head and neck, somatic, MIM# 275355
Mendeliome v0.10410 ING1 Zornitza Stark edited their review of gene: ING1: Changed phenotypes: Squamous cell carcinoma, head and neck, somatic, MIM# 275355
Mendeliome v0.10410 ING1 Zornitza Stark reviewed gene: ING1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.10404 ING1 Seb Lunke Deleted their comment
Mendeliome v0.10404 ING1 Seb Lunke Marked gene: ING1 as ready
Mendeliome v0.10404 ING1 Seb Lunke Added comment: Comment when marking as ready: Cancer association only. Red for mendeliome.
Mendeliome v0.10404 ING1 Seb Lunke Gene: ing1 has been classified as Red List (Low Evidence).
Mendeliome v0.10404 ING1 Seb Lunke Classified gene: ING1 as Red List (low evidence)
Mendeliome v0.10404 ING1 Seb Lunke Added comment: Comment on list classification: Cancer association only
Mendeliome v0.10404 ING1 Seb Lunke Gene: ing1 has been classified as Red List (Low Evidence).
Mendeliome v0.8301 RING1 Zornitza Stark Marked gene: RING1 as ready
Mendeliome v0.8301 RING1 Zornitza Stark Gene: ring1 has been classified as Red List (Low Evidence).
Mendeliome v0.8301 RING1 Zornitza Stark Classified gene: RING1 as Red List (low evidence)
Mendeliome v0.8301 RING1 Zornitza Stark Gene: ring1 has been classified as Red List (Low Evidence).
Mendeliome v0.8292 RING1 Eleanor Williams gene: RING1 was added
gene: RING1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: RING1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: RING1 were set to 29386386
Phenotypes for gene: RING1 were set to microcephaly; intellectual disability
Review for gene: RING1 was set to RED
Added comment: Not associated with any phenotype in OMIM.

PMID: 29386386 - Pierce et al 2018 - report a 13 yo female with a de novo RING1 p.R95Q variant and syndromic neurodevelopmental disabilities. Early motor and language development were normal but were delayed after the first year of life. Cognitive testing showed a verbal IQ of 55 and a visual performance IQ of 63. Head circumference at birth was -4.9 SD, and -4.2 SD at age 13 which falls into the severe microcephaly category. C. elegans with either the missense mutation or complete knockout of spat-3 (the suggested RING1 ortholog) were defective in monoubiquitylation of histone H2A and had defects in neuronal migration and axon guidance.
Sources: Literature
Mendeliome v0.0 SERPING1 Zornitza Stark gene: SERPING1 was added
gene: SERPING1 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SERPING1 was set to Unknown
Mendeliome v0.0 ING1 Zornitza Stark gene: ING1 was added
gene: ING1 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ING1 was set to Unknown