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Mendeliome v1.2693 SLFN14 Sangavi Sivagnanasundram reviewed gene: SLFN14: Rating: GREEN; Mode of pathogenicity: None; Publications: https://search.clinicalgenome.org/CCID:006205; Phenotypes: platelet-type bleeding disorder 20 MONDO:0014830; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v1.2688 ELFN1 Krithika Murali Classified gene: ELFN1 as Green List (high evidence)
Mendeliome v1.2688 ELFN1 Krithika Murali Gene: elfn1 has been classified as Green List (High Evidence).
Mendeliome v1.2687 ELFN1 Krithika Murali Marked gene: ELFN1 as ready
Mendeliome v1.2687 ELFN1 Krithika Murali Gene: elfn1 has been classified as Red List (Low Evidence).
Mendeliome v1.2687 ELFN1 Krithika Murali gene: ELFN1 was added
gene: ELFN1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: ELFN1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ELFN1 were set to PMID: 40576023
Phenotypes for gene: ELFN1 were set to Neurodevelopmental disorder, MONDO:0700092, ELFN1-related
Review for gene: ELFN1 was set to GREEN
Added comment: PMID: 40576023 report 8 individuals from 5 unrelated families and 6 previously reported patients from 2 families. Most patients had homozygous biallelic deletions / PTCs in ELFN1 (including one involving 5'UTR). One family had biallelic missense variants,

All patients had dev delay/ID. Other features included autism/ADHD/behavioural issues, hypotonia/muscle weakness, paediatric-onset ataxia/movement disorder and epilepsy.

Supportive functional modelling in mice and zebrafish. Some emerging evidence for haploinsufficiency.
Sources: Literature
Mendeliome v0.6854 FN1 Zornitza Stark Marked gene: FN1 as ready
Mendeliome v0.6854 FN1 Zornitza Stark Gene: fn1 has been classified as Green List (High Evidence).
Mendeliome v0.6854 FN1 Zornitza Stark Phenotypes for gene: FN1 were changed from to Glomerulopathy with fibronectin deposits 2 (MIM#601894); Spondylometaphyseal dysplasia, corner fracture type (MIM#184255)
Mendeliome v0.6853 FN1 Zornitza Stark Publications for gene: FN1 were set to
Mendeliome v0.6852 FN1 Zornitza Stark Mode of inheritance for gene: FN1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.6850 FN1 Ain Roesley reviewed gene: FN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 29100092; Phenotypes: Glomerulopathy with fibronectin deposits 2 (MIM#601894), Spondylometaphyseal dysplasia, corner fracture type (MIM#184255); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mendeliome v0.4723 PFN1 Zornitza Stark Marked gene: PFN1 as ready
Mendeliome v0.4723 PFN1 Zornitza Stark Gene: pfn1 has been classified as Green List (High Evidence).
Mendeliome v0.4723 PFN1 Zornitza Stark Publications for gene: PFN1 were set to
Mendeliome v0.4722 PFN1 Zornitza Stark Phenotypes for gene: PFN1 were changed from to Amyotrophic lateral sclerosis 18 (MIM# 614808); Paget’s disease of bone
Mendeliome v0.4721 PFN1 Zornitza Stark Mode of inheritance for gene: PFN1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.4720 PFN1 Zornitza Stark reviewed gene: PFN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31802421, 31611772, 31401564, 30203378, 28040732, 22801503; Phenotypes: Amyotrophic lateral sclerosis 18, MIM# 614808; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.4717 PFN1 Melanie Marty reviewed gene: PFN1: Rating: AMBER; Mode of pathogenicity: None; Publications: 32392277, 31991009, 31346562, 32589291, 22801503; Phenotypes: Paget’s disease of bone; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.4714 PFN1 Ain Roesley reviewed gene: PFN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23141414, 22801503, 25499087, 24309268, 22801503, 26908597; Phenotypes: Amyotrophic lateral sclerosis 18 (MIM# 614808); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.3795 SLFN14 Zornitza Stark Marked gene: SLFN14 as ready
Mendeliome v0.3795 SLFN14 Zornitza Stark Gene: slfn14 has been classified as Green List (High Evidence).
Mendeliome v0.3795 SLFN14 Zornitza Stark Classified gene: SLFN14 as Green List (high evidence)
Mendeliome v0.3795 SLFN14 Zornitza Stark Gene: slfn14 has been classified as Green List (High Evidence).
Mendeliome v0.3794 SLFN14 Zornitza Stark gene: SLFN14 was added
gene: SLFN14 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: SLFN14 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SLFN14 were set to 26280575; 26769223
Phenotypes for gene: SLFN14 were set to Bleeding disorder, platelet-type, 20, MIM# 616913
Review for gene: SLFN14 was set to GREEN
Added comment: At least four unrelated families reported.
Sources: Expert list
Mendeliome v0.2179 NME3 Zornitza Stark gene: NME3 was added
gene: NME3 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: NME3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NME3 were set to 30587587
Phenotypes for gene: NME3 were set to Hypotonia; Neurodegeneration; Abnormal mitochondrial dynamics
Review for gene: NME3 was set to RED
Added comment: Single individual reported. NME3 is a mitochondrial outer-membrane protein capable of interacting with MFN1/2, and its depletion causes dysfunction in mitochondrial dynamics
Sources: Expert list
Mendeliome v0.0 PFN1 Zornitza Stark gene: PFN1 was added
gene: PFN1 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PFN1 was set to Unknown
Mendeliome v0.0 FN1 Zornitza Stark gene: FN1 was added
gene: FN1 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: FN1 was set to Unknown