PanelApp

Activity

Filter

Cancel
Date Panel Item Activity
30 actions
Mendeliome v1.4533 RAD51AP2 Zornitza Stark Marked gene: RAD51AP2 as ready
Mendeliome v1.4533 RAD51AP2 Zornitza Stark Gene: rad51ap2 has been classified as Amber List (Moderate Evidence).
Mendeliome v1.4533 RAD51AP2 Zornitza Stark Classified gene: RAD51AP2 as Amber List (moderate evidence)
Mendeliome v1.4533 RAD51AP2 Zornitza Stark Gene: rad51ap2 has been classified as Amber List (Moderate Evidence).
Mendeliome v1.4532 RAD51AP2 Zornitza Stark gene: RAD51AP2 was added
gene: RAD51AP2 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: RAD51AP2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RAD51AP2 were set to 41644825; 36153927
Phenotypes for gene: RAD51AP2 were set to Infertility disorder, MONDO:0005047, RAD51AP2-related
Review for gene: RAD51AP2 was set to AMBER
Added comment: PMID 41644825 reports one male patient from a Turkish consanguineous family and PMID 36153927 reports two brothers from an unrelated family; together three individuals from two unrelated families carry biallelic loss‑of‑function RAD51AP2 variants and present with non‑obstructive azoospermia and meiotic arrest. Both studies demonstrate autosomal recessive inheritance, and a mouse Rad51ap2 knockout recapitulates the infertility phenotype, providing functional support for causality.
Sources: Literature
Mendeliome v1.2988 MAEA Zornitza Stark gene: MAEA was added
gene: MAEA was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: MAEA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MAEA were set to 40880485
Phenotypes for gene: MAEA were set to Neurodevelopmental disorder, MONDO:0700092, MAEA-related
Review for gene: MAEA was set to AMBER
Added comment: At least 4 individuals with de novo missense variants in this gene reported as part of large DDD papers. PMID 40880485 presents extensive data showing that loss of MAEA impairs RAD51 recruitment at stalled replication forks, leading to increased sensitivity to replication stress-inducing agents and excessive degradation of nascent DNA strands. Amber rating as scant detail on the affected individuals.
Sources: Literature
Mendeliome v0.12688 RAD51C Zornitza Stark Marked gene: RAD51C as ready
Mendeliome v0.12688 RAD51C Zornitza Stark Gene: rad51c has been classified as Green List (High Evidence).
Mendeliome v0.12688 RAD51C Zornitza Stark Phenotypes for gene: RAD51C were changed from to Fanconi anaemia, complementation group O (MIM#613390)
Mendeliome v0.12687 RAD51C Zornitza Stark Publications for gene: RAD51C were set to
Mendeliome v0.12685 RAD51C Zornitza Stark Mode of inheritance for gene: RAD51C was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12676 RAD51C Crystle Lee reviewed gene: RAD51C: Rating: GREEN; Mode of pathogenicity: None; Publications: 29278735, 20400963, 22167183; Phenotypes: Fanconi anemia, complementation group O (MIM#613390); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7297 RAD51 Zornitza Stark edited their review of gene: RAD51: Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.7297 RAD51 Zornitza Stark Marked gene: RAD51 as ready
Mendeliome v0.7297 RAD51 Zornitza Stark Gene: rad51 has been classified as Green List (High Evidence).
Mendeliome v0.7297 RAD51 Zornitza Stark Phenotypes for gene: RAD51 were changed from to Fanconi anaemia, complementation group R, MIM# 617244
Mendeliome v0.7296 RAD51 Zornitza Stark Publications for gene: RAD51 were set to
Mendeliome v0.7295 RAD51 Zornitza Stark Mode of inheritance for gene: RAD51 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.7294 RAD51 Zornitza Stark reviewed gene: RAD51: Rating: GREEN; Mode of pathogenicity: None; Publications: 26253028, 26681308, 30907510; Phenotypes: Fanconi anaemia, complementation group R, MIM# 617244; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5178 RAD51D Zornitza Stark Marked gene: RAD51D as ready
Mendeliome v0.5178 RAD51D Zornitza Stark Gene: rad51d has been classified as Red List (Low Evidence).
Mendeliome v0.5178 RAD51D Zornitza Stark Phenotypes for gene: RAD51D were changed from to {Breast-ovarian cancer, familial, susceptibility to, 4} 614291
Mendeliome v0.5177 RAD51D Zornitza Stark Publications for gene: RAD51D were set to
Mendeliome v0.5176 RAD51D Zornitza Stark Mode of inheritance for gene: RAD51D was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.5175 RAD51D Zornitza Stark Classified gene: RAD51D as Red List (low evidence)
Mendeliome v0.5175 RAD51D Zornitza Stark Gene: rad51d has been classified as Red List (Low Evidence).
Mendeliome v0.5171 RAD51D Elena Savva reviewed gene: RAD51D: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 28646019, 31937788, 26057125; Phenotypes: {Breast-ovarian cancer, familial, susceptibility to, 4} 614291; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mendeliome v0.0 RAD51D Zornitza Stark gene: RAD51D was added
gene: RAD51D was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: RAD51D was set to Unknown
Mendeliome v0.0 RAD51C Zornitza Stark gene: RAD51C was added
gene: RAD51C was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: RAD51C was set to Unknown
Mendeliome v0.0 RAD51 Zornitza Stark gene: RAD51 was added
gene: RAD51 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: RAD51 was set to Unknown