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Date	Panel	Item	Activity
Filter activities 24 actions
27 Nov 2025	Mendeliome v1.3694	NOS1	Chirag Patel Marked gene: NOS1 as ready
27 Nov 2025	Mendeliome v1.3694	NOS1	Chirag Patel Gene: nos1 has been classified as Green List (High Evidence).
27 Nov 2025	Mendeliome v1.3694	NOS1	Chirag Patel Classified gene: NOS1 as Green List (high evidence)
27 Nov 2025	Mendeliome v1.3694	NOS1	Chirag Patel Gene: nos1 has been classified as Green List (High Evidence).
27 Nov 2025	Mendeliome v1.3693		Chirag Patel Copied gene NOS1 from panel Pituitary hormone deficiency
27 Nov 2025	Mendeliome v1.3693	NOS1	Chirag Patel gene: NOS1 was added gene: NOS1 was added to Mendeliome. Sources: Expert Review Red,Literature Mode of inheritance for gene: NOS1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: NOS1 were set to 36197968 Phenotypes for gene: NOS1 were set to Hypogonadotropic hypogonadism, MONDO:0018555
08 Nov 2021	Mendeliome v0.9625	ANOS1	Zornitza Stark Marked gene: ANOS1 as ready
08 Nov 2021	Mendeliome v0.9625	ANOS1	Zornitza Stark Gene: anos1 has been classified as Green List (High Evidence).
08 Nov 2021	Mendeliome v0.9625	ANOS1	Zornitza Stark Phenotypes for gene: ANOS1 were changed from to Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1), MIM# 308700
08 Nov 2021	Mendeliome v0.9624	ANOS1	Zornitza Stark Publications for gene: ANOS1 were set to
08 Nov 2021	Mendeliome v0.9623	ANOS1	Zornitza Stark Mode of inheritance for gene: ANOS1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
08 Nov 2021	Mendeliome v0.9622	ANOS1	Zornitza Stark reviewed gene: ANOS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 1594017, 8504298, 8989261; Phenotypes: Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1), MIM# 308700; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
31 Jan 2021	Mendeliome v0.6152	NOS1AP	Zornitza Stark Phenotypes for gene: NOS1AP were changed from to Nephrotic syndrome, type 22, MIM# 619155
31 Jan 2021	Mendeliome v0.6151	NOS1AP	Zornitza Stark Mode of inheritance for gene: NOS1AP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
31 Jan 2021	Mendeliome v0.6150	NOS1AP	Zornitza Stark Classified gene: NOS1AP as Green List (high evidence)
31 Jan 2021	Mendeliome v0.6150	NOS1AP	Zornitza Stark Gene: nos1ap has been classified as Green List (High Evidence).
31 Jan 2021	Mendeliome v0.6149	NOS1AP	Zornitza Stark edited their review of gene: NOS1AP: Added comment: Nephrotic syndrome type 22 (NPHS22) is an autosomal recessive renal disease characterized by onset of progressive kidney dysfunction in infancy. Affected individuals usually present with edema associated with hypoproteinemia, proteinuria, and microscopic hematuria. Renal biopsy shows effacement of the podocyte foot processes, glomerulosclerosis, and thickening of the glomerular basement membrane. The disease is steroid-resistant and progressive, resulting in end-stage renal disease usually necessitating kidney transplant. Two unrelated families and animal model. No PMID yet: https://advances.sciencemag.org/content/7/1/eabe1386; Changed rating: GREEN; Changed phenotypes: Nephrotic syndrome, type 22, MIM# 619155; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
31 Mar 2020	Mendeliome v0.1870	NOS1AP	Zornitza Stark Marked gene: NOS1AP as ready
31 Mar 2020	Mendeliome v0.1870	NOS1AP	Zornitza Stark Gene: nos1ap has been classified as Red List (Low Evidence).
31 Mar 2020	Mendeliome v0.1870	NOS1AP	Zornitza Stark Classified gene: NOS1AP as Red List (low evidence)
31 Mar 2020	Mendeliome v0.1870	NOS1AP	Zornitza Stark Gene: nos1ap has been classified as Red List (Low Evidence).
30 Mar 2020	Mendeliome v0.1842	NOS1AP	Crystle Lee reviewed gene: NOS1AP: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
17 Nov 2019	Mendeliome v0.0	NOS1AP	Zornitza Stark gene: NOS1AP was added gene: NOS1AP was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: NOS1AP was set to Unknown
17 Nov 2019	Mendeliome v0.0	ANOS1	Zornitza Stark gene: ANOS1 was added gene: ANOS1 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: ANOS1 was set to Unknown