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Mendeliome v0.2783 CUL3 Zornitza Stark Publications for gene: CUL3 were set to
Mendeliome v0.2782 CUL3 Zornitza Stark Mode of inheritance for gene: CUL3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2781 CUL3 Zornitza Stark reviewed gene: CUL3: Rating: GREEN; Mode of pathogenicity: None; Publications: 22495309, 22914163, 25363760, 27824329, 32341456; Phenotypes: Pseudohypoaldosteronism, type IIE 614496, Intellectual disability, Autism, Seizures; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2781 EGR2 Zornitza Stark Gene: egr2 has been classified as Green List (High Evidence).
Mendeliome v0.2781 EGR2 Zornitza Stark Phenotypes for gene: EGR2 were changed from to Charcot-Marie-Tooth disease, type 1D 607678 AD; Dejerine-Sottas disease 145900 AD, AR; Hypomyelinating neuropathy, congenital, 1 605253 AD, AR
Mendeliome v0.2780 EGR2 Zornitza Stark Publications for gene: EGR2 were set to
Mendeliome v0.2779 EGR2 Zornitza Stark Mode of pathogenicity for gene: EGR2 was changed from to Other
Mendeliome v0.2778 EGR2 Zornitza Stark Mode of inheritance for gene: EGR2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.2777 EGR2 Zornitza Stark reviewed gene: EGR2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 11523566, 31852952; Phenotypes: Charcot-Marie-Tooth disease, type 1D 607678 AD, Dejerine-Sottas disease 145900 AD, AR, Hypomyelinating neuropathy, congenital, 1 605253 AD, AR; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.2777 GAS2L2 Zornitza Stark Gene: gas2l2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2777 GAS2L2 Zornitza Stark Phenotypes for gene: GAS2L2 were changed from to Ciliary dyskinesia, primary, 41 (MIM # 618449)
Mendeliome v0.2776 GAS2L2 Zornitza Stark Publications for gene: GAS2L2 were set to
Mendeliome v0.2775 GAS2L2 Zornitza Stark Mode of inheritance for gene: GAS2L2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2774 GAS2L2 Zornitza Stark Classified gene: GAS2L2 as Amber List (moderate evidence)
Mendeliome v0.2774 GAS2L2 Zornitza Stark Gene: gas2l2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2773 GAS2L2 Zornitza Stark reviewed gene: GAS2L2: Rating: AMBER; Mode of pathogenicity: None; Publications: 30665704; Phenotypes: Ciliary dyskinesia, primary, 41 (MIM # 618449); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2773 KLB Zornitza Stark Gene: klb has been classified as Green List (High Evidence).
Mendeliome v0.2773 KLB Zornitza Stark Phenotypes for gene: KLB were changed from to Hypogonadotropic hypogonadism
Mendeliome v0.2772 KLB Zornitza Stark Classified gene: KLB as Green List (high evidence)
Mendeliome v0.2772 KLB Zornitza Stark Gene: klb has been classified as Green List (High Evidence).
Mendeliome v0.2771 KLB Zornitza Stark gene: KLB was added
gene: KLB was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: KLB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KLB were set to 28754744
Review for gene: KLB was set to GREEN
Added comment: Seven heterozygous loss‐of‐function KLB mutations in 13 individuals reported. In mice, lack of Klb led to delayed puberty, altered estrous cyclicity, and subfertility due to a hypothalamic defect associated with inability of GnRH neurons to release GnRH in response to FGF21.
Functional analysis showed decreased activity in response to FGF21 and FGF8.
KLB is an obligate coreceptor for FGF21 alongside FGFR1.
Sources: Literature
Mendeliome v0.2770 NDNF Zornitza Stark Gene: ndnf has been classified as Green List (High Evidence).
Mendeliome v0.2770 NDNF Zornitza Stark Classified gene: NDNF as Green List (high evidence)
Mendeliome v0.2770 NDNF Zornitza Stark Gene: ndnf has been classified as Green List (High Evidence).
Mendeliome v0.2769 NDNF Zornitza Stark gene: NDNF was added
gene: NDNF was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: NDNF was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NDNF were set to 31883645
Phenotypes for gene: NDNF were set to Congenital hypogonadotropic hypogonadism (CHH)
Review for gene: NDNF was set to GREEN
Added comment: Three heterozygous protein-truncating variants and one heterozygous missense variant identified in a cohort of 240 unrelated IHH patients. The authors also provided supporting evidence from animal models.
Sources: Literature
Mendeliome v0.2768 UGDH Zornitza Stark Gene: ugdh has been classified as Green List (High Evidence).
Mendeliome v0.2768 UGDH Zornitza Stark Classified gene: UGDH as Green List (high evidence)
Mendeliome v0.2768 UGDH Zornitza Stark Gene: ugdh has been classified as Green List (High Evidence).
Mendeliome v0.2767 UGDH Zornitza Stark gene: UGDH was added
gene: UGDH was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: UGDH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: UGDH were set to 32001716
Phenotypes for gene: UGDH were set to Epileptic encephalopathy, early infantile, 84 - MIM #618792
Review for gene: UGDH was set to GREEN
Added comment: 36 individuals with biallelic UGDH pathogenic variants reported. The phenotype corresponded overall to a developmental epileptic encephalopathy with hypotonia, feeding difficulties, severe global DD, moderate or commonly severe ID in all. Hypotonia and motor disorder (incl. spasticity, dystonia, ataxia, chorea, etc) often occurred prior to the onset of seizures. A single individual did not present seizures and 2 sibs had only seizures in the setting of fever. There were no individuals with biallelic pLoF variants identified. Parental/sib studies were all compatible with AR inheritance mode.

UGDH encodes the enzyme UDP-glucose dehydrogenase which converts UDP-glucose to UDP-glucuronate, the latter being a critical component of the glycosaminoglycans, hyaluronan, chondroitin sulfate, and heparan sulfate. Patient fibroblast and biochemical assays suggested a LoF effect of variants leading to impairment of UGDH stability, oligomerization or enzymatic activity (decreased UGDH-catalyzed reduction of NAD+ to NADH / hyaluronic acid production which requires UDP-glucuronate).

Attempts to model the disorder using an already developped zebrafish model (for a hypomorphic LoF allele) were unsuccessful as fish did not exhibit seizures spontaneously or upon induction with PTZ. Modelling of the disorder in vitro using patient-derived cerebral organoids demonstrated smaller organoids due to reduced number of proliferating neural progenitors
Sources: Literature
Mendeliome v0.2766 TRIM33 Zornitza Stark Marked gene: TRIM33 as ready
Mendeliome v0.2766 TRIM33 Zornitza Stark Gene: trim33 has been classified as Red List (Low Evidence).
Mendeliome v0.2766 TRIM33 Zornitza Stark Classified gene: TRIM33 as Red List (low evidence)
Mendeliome v0.2766 TRIM33 Zornitza Stark Gene: trim33 has been classified as Red List (Low Evidence).
Mendeliome v0.2765 TRIM33 Zornitza Stark reviewed gene: TRIM33: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.2765 YIF1B Zornitza Stark Gene: yif1b has been classified as Green List (High Evidence).
Mendeliome v0.2765 YIF1B Zornitza Stark Classified gene: YIF1B as Green List (high evidence)
Mendeliome v0.2765 YIF1B Zornitza Stark Gene: yif1b has been classified as Green List (High Evidence).
Mendeliome v0.2764 YIF1B Zornitza Stark gene: YIF1B was added
gene: YIF1B was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: YIF1B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: YIF1B were set to 32006098; 26077767
Phenotypes for gene: YIF1B were set to Central hypotonia; Failure to thrive; Microcephaly; Global developmental delay; Intellectual disability; Seizures; Spasticity; Abnormality of movement
Review for gene: YIF1B was set to GREEN
Added comment: 6 individuals (from 5 families) with biallelic YIF1B truncating variants reported. Presenting features: hypotonia, failure to thrive, microcephaly (5/6), severe global DD and ID as well as features suggestive of a motor disorder (dystonia/spasticity/dyskinesia). Seizures were reported in 2 unrelated individuals (2/6). MRI abnormalities were observed in some with thin CC being a feature in 3. Affected individuals were found to be homozygous for truncating variants (4/5 families being consanguineous). The following 3 variants were identified (NM_001039672.2) : c.186dupT or p.Ala64fs / c.360_361insACAT or p.Gly121fs / c.598G>T or p.Glu200*. Yif1B KO mice demonstrate a disorganized Golgi architecture in pyramidal hippocampal neurons (Alterio et al 2015 - PMID: 26077767). Functional/network analysis of genes co-regulated with YIF1B based on available RNAseq data, suggest enrichement in in genes important for nervous system development and function.
Sources: Literature
Mendeliome v0.2763 TNRC6B Zornitza Stark Phenotypes for gene: TNRC6B were changed from to Global developmental delay; Intellectual disability; Autistic behavior
Mendeliome v0.2762 TNRC6B Zornitza Stark Publications for gene: TNRC6B were set to
Mendeliome v0.2761 TNRC6B Zornitza Stark Mode of inheritance for gene: TNRC6B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2760 TNRC6B Zornitza Stark Classified gene: TNRC6B as Green List (high evidence)
Mendeliome v0.2760 TNRC6B Zornitza Stark Gene: tnrc6b has been classified as Green List (High Evidence).
Mendeliome v0.2759 TNRC6B Zornitza Stark edited their review of gene: TNRC6B: Added comment: 17 unrelated individuals with heterozygous TNRC6B variants reported. Features included hypotonia (10/17), DD/ID (17/17 - ID was not universal: average IQ of 12 individuals was 73 (range : 50-113) with 4 having below 70), ADHD (11/17), ASD or autistic traits (8/17 and 5/17). Some/few presented with abnormal OFC (micro- / macrocephaly in 3/17 and 2/17), abnormal vision or hearing, variable other congenital anomalies, echocardiographic, GI or renal abnormalities, etc. Epilepsy was reported in 1/17. There was no recognisable gestalt.Detected variants included 14 pLoF, 1 missense SNV and 2 intragenic deletions. Variants had occurred as de novo events in 10/13 subjects for whom testing of both parents was possible. 3/13 subjects had inherited the variant from a parent with milder phenotype. Based on the type of variants identified, the pLI score of 1 in gnomAD and the HI index of 5.61%, the authors suggest haploinsufficiency as the most likely mechanism. Individuals with de novo TNRC6B variants have also been reported in larger cohorts (e.g. DDD study - PMID: 28135719, Iossifov et al - PMID: 25363768, Lelieveld et al - PMID: 27479843, Jónsson et al - PMID: 28959963). A previous study provided details on 2 sibs harboring a translocation which disrupted both TNRC6B and TCF20 (also associated with ID)(Babbs et al - PMID: 25228304).; Changed rating: GREEN; Changed publications: 32152250, 28135719, 25363768, 27479843, 28959963, 25228304; Changed phenotypes: Global developmental delay, Intellectual disability, Autistic behavior; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2759 CDC42BPB Zornitza Stark Gene: cdc42bpb has been classified as Green List (High Evidence).
Mendeliome v0.2759 CDC42BPB Zornitza Stark Classified gene: CDC42BPB as Green List (high evidence)
Mendeliome v0.2759 CDC42BPB Zornitza Stark Gene: cdc42bpb has been classified as Green List (High Evidence).
Mendeliome v0.2758 CDC42BPB Zornitza Stark gene: CDC42BPB was added
gene: CDC42BPB was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: CDC42BPB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CDC42BPB were set to 32031333
Phenotypes for gene: CDC42BPB were set to Central hypotonia; Global developmental delay; Intellectual disability; Seizures; Autistic behavior; Behavioral abnormality
Review for gene: CDC42BPB was set to GREEN
Added comment: 14 individuals with missense and loss-of-function CDC42BPB variants reported. Features included hypotonia (8/11), DD (12/13 - the 14th was a fetus), ID (7/13), ASD (8/12), clinical seizures (in 3 - a 4th had abnormal EEG without seizures), behavioral abnormalities. Variable non-specific dysmorphic features were reported in some (sparse hair being the most frequent - 4/8). Additional features were observed in few (=<4) incl. cryptorchidism, ophthalmological issues, constipation, kidney abnormalities, micropenis, etc. Most variants occurred as de novo events (11/14) while inheritance was not available for few (3/14).
Sources: Literature
Mendeliome v0.2757 DNAJB13 Zornitza Stark Gene: dnajb13 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2757 DNAJB13 Zornitza Stark Phenotypes for gene: DNAJB13 were changed from to Ciliary dyskinesia, primary, 34, MIM# 617091
Mendeliome v0.2756 DNAJB13 Zornitza Stark Publications for gene: DNAJB13 were set to
Mendeliome v0.2755 DNAJB13 Zornitza Stark Mode of inheritance for gene: DNAJB13 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2754 DNAJB13 Zornitza Stark Classified gene: DNAJB13 as Amber List (moderate evidence)
Mendeliome v0.2754 DNAJB13 Zornitza Stark Gene: dnajb13 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2753 DNAJB13 Zornitza Stark reviewed gene: DNAJB13: Rating: AMBER; Mode of pathogenicity: None; Publications: 27486783; Phenotypes: Ciliary dyskinesia, primary, 34, MIM# 617091; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2753 CFC1 Zornitza Stark Gene: cfc1 has been classified as Green List (High Evidence).
Mendeliome v0.2753 CFC1 Zornitza Stark Phenotypes for gene: CFC1 were changed from to Heterotaxy, visceral, 2, autosomal 605376
Mendeliome v0.2752 CFC1 Zornitza Stark Publications for gene: CFC1 were set to
Mendeliome v0.2751 CFC1 Zornitza Stark Mode of inheritance for gene: CFC1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2750 CFC1 Zornitza Stark reviewed gene: CFC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31633655, 18162845, 25423076, 11062482; Phenotypes: Heterotaxy, visceral, 2, autosomal 605376; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2750 CFAP53 Zornitza Stark Gene: cfap53 has been classified as Green List (High Evidence).
Mendeliome v0.2750 CFAP53 Zornitza Stark Phenotypes for gene: CFAP53 were changed from to Heterotaxy, visceral, 6, autosomal recessive 614779
Mendeliome v0.2749 CFAP53 Zornitza Stark Publications for gene: CFAP53 were set to
Mendeliome v0.2748 CFAP53 Zornitza Stark Mode of inheritance for gene: CFAP53 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2747 CFAP53 Zornitza Stark reviewed gene: CFAP53: Rating: GREEN; Mode of pathogenicity: None; Publications: 28621423, 22577226, 26531781; Phenotypes: Heterotaxy, visceral, 6, autosomal recessive 614779; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2747 TTC25 Zornitza Stark Marked gene: TTC25 as ready
Mendeliome v0.2747 TTC25 Zornitza Stark Gene: ttc25 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2747 TTC25 Zornitza Stark Phenotypes for gene: TTC25 were changed from to Ciliary dyskinesia, primary, 35 (MIM#617092)
Mendeliome v0.2746 TTC25 Zornitza Stark Publications for gene: TTC25 were set to
Mendeliome v0.2745 TTC25 Zornitza Stark Mode of inheritance for gene: TTC25 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2744 TTC25 Zornitza Stark Classified gene: TTC25 as Amber List (moderate evidence)
Mendeliome v0.2744 TTC25 Zornitza Stark Gene: ttc25 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2743 TTC25 Zornitza Stark reviewed gene: TTC25: Rating: AMBER; Mode of pathogenicity: None; Publications: 27486780; Phenotypes: Ciliary dyskinesia, primary, 35 (MIM#617092); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2743 CFAP43 Zornitza Stark Added comment: Comment when marking as ready: Good evidence for bi-allelic disease, much less so for mono-allelic.
Mendeliome v0.2743 CFAP43 Zornitza Stark Gene: cfap43 has been classified as Green List (High Evidence).
Mendeliome v0.2743 CFAP43 Zornitza Stark Classified gene: CFAP43 as Green List (high evidence)
Mendeliome v0.2743 CFAP43 Zornitza Stark Gene: cfap43 has been classified as Green List (High Evidence).
Mendeliome v0.2742 CFAP43 Elena Savva gene: CFAP43 was added
gene: CFAP43 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: CFAP43 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: CFAP43 were set to PMID: 31884020; 28552195; 31004071; 29449551
Phenotypes for gene: CFAP43 were set to Hydrocephalus, normal pressure, 1 236690; Spermatogenic failure 19 617592
Added comment: aka WDR96

PMID: 31884020 - animal models (mouse, frog) demonstrate the protein localizes in ciliary axoneme and is involved in MOTILE cilia movement. LOF CFAP43 caused mucus acucmulation in airways, impaired spermatogenesis and hydrocephalus.

PMID: 28552195 - 3x chet (bilallelic PTCs or chet PTC/missense) with abnormal sperm motility. Null mouse models were also infertile.

PMID: 31004071 - one family with a heterozygous nonsense and AD inheritance of late onset hydrocephaly (checked in Mutalyzer, variant is NMD predicted). Abnormal cilia observed from mucosa sample. Null mice also show abnormal sperm and dilation of brain ventricles.

PMID: 29449551 - reports an additional 10 patients with either homozygous PTCs or chet PTC/missense who were infertile with flagella defects

Summary: single report of AD hydrocephaly
Sources: Literature
Mendeliome v0.2742 MYLK2 Zornitza Stark Gene: mylk2 has been classified as Red List (Low Evidence).
Mendeliome v0.2742 MYLK2 Zornitza Stark Phenotypes for gene: MYLK2 were changed from to Cardiomyopathy, hypertrophic, 1, digenic, 192600
Mendeliome v0.2741 MYLK2 Zornitza Stark Publications for gene: MYLK2 were set to
Mendeliome v0.2740 MYLK2 Zornitza Stark Mode of inheritance for gene: MYLK2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2739 MYLK2 Zornitza Stark Classified gene: MYLK2 as Red List (low evidence)
Mendeliome v0.2739 MYLK2 Zornitza Stark Gene: mylk2 has been classified as Red List (Low Evidence).
Mendeliome v0.2738 MYLK2 Zornitza Stark reviewed gene: MYLK2: Rating: RED; Mode of pathogenicity: None; Publications: 11733062, 24082139, 25825456, 20301725; Phenotypes: Cardiomyopathy, hypertrophic, 1, digenic, 192600; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2738 CDX2 Zornitza Stark Gene: cdx2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2738 CDX2 Zornitza Stark Phenotypes for gene: CDX2 were changed from to Persistent cloaca
Mendeliome v0.2737 CDX2 Zornitza Stark Publications for gene: CDX2 were set to
Mendeliome v0.2736 CDX2 Zornitza Stark Mode of inheritance for gene: CDX2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2735 CDX2 Zornitza Stark Classified gene: CDX2 as Amber List (moderate evidence)
Mendeliome v0.2735 CDX2 Zornitza Stark Gene: cdx2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2734 CDX2 Zornitza Stark reviewed gene: CDX2: Rating: AMBER; Mode of pathogenicity: None; Publications: 29177441; Phenotypes: Persistent cloaca; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2734 TAPT1 Zornitza Stark Marked gene: TAPT1 as ready
Mendeliome v0.2734 TAPT1 Zornitza Stark Gene: tapt1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2734 TAPT1 Zornitza Stark Phenotypes for gene: TAPT1 were changed from to Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type (MIM#616897)
Mendeliome v0.2733 TAPT1 Zornitza Stark Publications for gene: TAPT1 were set to
Mendeliome v0.2732 TAPT1 Zornitza Stark Mode of inheritance for gene: TAPT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2731 TAPT1 Zornitza Stark Classified gene: TAPT1 as Amber List (moderate evidence)
Mendeliome v0.2731 TAPT1 Zornitza Stark Gene: tapt1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2730 TAPT1 Zornitza Stark reviewed gene: TAPT1: Rating: AMBER; Mode of pathogenicity: None; Publications: 26365339; Phenotypes: Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type (MIM#616897); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2730 CCDC28B Zornitza Stark Classified gene: CCDC28B as Amber List (moderate evidence)
Mendeliome v0.2730 CCDC28B Zornitza Stark Gene: ccdc28b has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2729 CCDC28B Zornitza Stark edited their review of gene: CCDC28B: Added comment: PMID: 32139166 - Single family with Joubert syndrome. Patient was homozygous for a missense, with polydactyly, severe ID, and the molar tooth sign observed in MRI. Sibling fetus MRI showed vermis hypoplasia, and was also homozygous for the variant. Parents confirmed unaffected carriers. Knockdown of CCDC28B in human TERT retinal pigment epithelial cells reduced both the number and length of cilia 430C-T variant is postulated to be a modifier of BBS.; Changed rating: AMBER; Changed publications: 32139166; Changed phenotypes: {Bardet-Biedl syndrome 1, modifier of}, MIM#209900, Joubert syndrome
Mendeliome v0.2729 C21orf59 Zornitza Stark Added comment: Comment when marking as ready: p.Tyr245* recurrent in the Ashkenazi Jewish population
Mendeliome v0.2729 C21orf59 Zornitza Stark Gene: c21orf59 has been classified as Green List (High Evidence).
Mendeliome v0.2729 C21orf59 Zornitza Stark Tag founder tag was added to gene: C21orf59.
Mendeliome v0.2729 C11orf70 Zornitza Stark Gene: c11orf70 has been classified as Green List (High Evidence).
Mendeliome v0.2729 C11orf70 Zornitza Stark Tag new gene name tag was added to gene: C11orf70.
Mendeliome v0.2729 C11orf70 Zornitza Stark Phenotypes for gene: C11orf70 were changed from to Ciliary dyskinesia, primary, 38, MIM# 618063
Mendeliome v0.2728 C11orf70 Zornitza Stark Publications for gene: C11orf70 were set to
Mendeliome v0.2727 C11orf70 Zornitza Stark Mode of inheritance for gene: C11orf70 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2726 C11orf70 Zornitza Stark reviewed gene: C11orf70: Rating: GREEN; Mode of pathogenicity: None; Publications: 29727693, 29727692; Phenotypes: Ciliary dyskinesia, primary, 38, MIM# 618063; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2726 ARMC9 Zornitza Stark Gene: armc9 has been classified as Green List (High Evidence).
Mendeliome v0.2726 ARMC9 Zornitza Stark Phenotypes for gene: ARMC9 were changed from to Joubert syndrome 30, MIM#617622
Mendeliome v0.2725 ARMC9 Zornitza Stark Publications for gene: ARMC9 were set to
Mendeliome v0.2724 ARMC9 Zornitza Stark Mode of inheritance for gene: ARMC9 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2723 ARMC9 Zornitza Stark Deleted their comment
Mendeliome v0.2723 ARMC9 Zornitza Stark edited their review of gene: ARMC9: Added comment: ARMC9 localizes to the ciliary basal body and daughter centriole and is predicted to function in ciliogenesis PMID: 28625504 - 8 families with Joubert syndrome, all variant types detected. Functional studies show protein localizes at the basal body and upregulates during ciliogenesis. Zebrafish with frameshift mutation recapitulated the human phenotype including a curved body, coloboma, retinal dystrophy and less cilia.; Changed rating: GREEN; Changed publications: 28625504
Mendeliome v0.2723 ARMC8 Zornitza Stark Gene: armc8 has been classified as Red List (Low Evidence).
Mendeliome v0.2723 ARMC8 Zornitza Stark Classified gene: ARMC8 as Red List (low evidence)
Mendeliome v0.2723 ARMC8 Zornitza Stark Gene: armc8 has been classified as Red List (Low Evidence).
Mendeliome v0.2722 ARMC8 Zornitza Stark reviewed gene: ARMC8: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.2722 ARMC4 Zornitza Stark Gene: armc4 has been classified as Green List (High Evidence).
Mendeliome v0.2722 ARMC4 Zornitza Stark Phenotypes for gene: ARMC4 were changed from to Ciliary dyskinesia, primary, 23, MIM# 615451
Mendeliome v0.2721 ARMC4 Zornitza Stark Publications for gene: ARMC4 were set to
Mendeliome v0.2720 ARMC4 Zornitza Stark Mode of inheritance for gene: ARMC4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2719 ARMC4 Zornitza Stark reviewed gene: ARMC4: Rating: GREEN; Mode of pathogenicity: None; Publications: 31765523, 23849778; Phenotypes: Ciliary dyskinesia, primary, 23, MIM# 615451; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2719 ACVR2B Zornitza Stark Gene: acvr2b has been classified as Red List (Low Evidence).
Mendeliome v0.2719 ACVR2B Zornitza Stark Phenotypes for gene: ACVR2B were changed from to Heterotaxy, visceral, 4, autosomal 613751
Mendeliome v0.2718 ACVR2B Zornitza Stark Publications for gene: ACVR2B were set to
Mendeliome v0.2717 ACVR2B Zornitza Stark Mode of inheritance for gene: ACVR2B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2716 ACVR2B Zornitza Stark Classified gene: ACVR2B as Red List (low evidence)
Mendeliome v0.2716 ACVR2B Zornitza Stark Gene: acvr2b has been classified as Red List (Low Evidence).
Mendeliome v0.2715 ACVR2B Zornitza Stark reviewed gene: ACVR2B: Rating: RED; Mode of pathogenicity: None; Publications: 9916847, 30622330, 21864452; Phenotypes: Heterotaxy, visceral, 4, autosomal 613751; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2715 ARMC8 Elena Savva reviewed gene: ARMC8: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.2715 ACVR2B Elena Savva reviewed gene: ACVR2B: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 9916847, 30622330, 21864452; Phenotypes: Heterotaxy, visceral, 4, autosomal 613751; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mendeliome v0.2715 NID1 Zornitza Stark Gene: nid1 has been classified as Green List (High Evidence).
Mendeliome v0.2715 NID1 Zornitza Stark Phenotypes for gene: NID1 were changed from to Dandy-Walker malformation and occipital cephalocele; Hydrocephalus with or without seizures
Mendeliome v0.2714 NID1 Zornitza Stark Publications for gene: NID1 were set to
Mendeliome v0.2713 NID1 Zornitza Stark Mode of inheritance for gene: NID1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2712 NID1 Zornitza Stark reviewed gene: NID1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23674478, 25558065, 12480912, 30773799; Phenotypes: Dandy-Walker malformation and occipital cephalocele, Hydrocephalus with or without seizures; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2712 ZIC4 Crystle Lee reviewed gene: ZIC4: Rating: RED; Mode of pathogenicity: None; Publications: 21204220, 15338008; Phenotypes: ; Mode of inheritance: Unknown
Mendeliome v0.2712 DARS Zornitza Stark Gene: dars has been classified as Green List (High Evidence).
Mendeliome v0.2712 DARS Zornitza Stark Phenotypes for gene: DARS were changed from to Hypomyelination with brainstem and spinal cord involvement and leg spasticity, MIM# 615281
Mendeliome v0.2711 DARS Zornitza Stark Publications for gene: DARS were set to
Mendeliome v0.2710 DARS Zornitza Stark Mode of inheritance for gene: DARS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2709 DARS Zornitza Stark Tag new gene name tag was added to gene: DARS.
Mendeliome v0.2709 DARS Zornitza Stark reviewed gene: DARS: Rating: GREEN; Mode of pathogenicity: None; Publications: 25527264, 23643384; Phenotypes: Hypomyelination with brainstem and spinal cord involvement and leg spasticity, MIM# 615281; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2709 CCDC65 Zornitza Stark Tag founder tag was added to gene: CCDC65.
Mendeliome v0.2709 CCDC65 Zornitza Stark Gene: ccdc65 has been classified as Green List (High Evidence).
Mendeliome v0.2709 CCDC65 Zornitza Stark Phenotypes for gene: CCDC65 were changed from to Ciliary dyskinesia, primary, 27, MIM# 615504
Mendeliome v0.2708 CCDC65 Zornitza Stark Publications for gene: CCDC65 were set to
Mendeliome v0.2707 CCDC65 Zornitza Stark Mode of inheritance for gene: CCDC65 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2706 CCDC65 Zornitza Stark reviewed gene: CCDC65: Rating: GREEN; Mode of pathogenicity: None; Publications: 23991085, 24094744; Phenotypes: Ciliary dyskinesia, primary, 27, MIM# 615504; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2706 C21orf59 Zornitza Stark Gene: c21orf59 has been classified as Green List (High Evidence).
Mendeliome v0.2706 C21orf59 Zornitza Stark Phenotypes for gene: C21orf59 were changed from to Ciliary dyskinesia, primary, 26, MIM# 615500
Mendeliome v0.2705 C21orf59 Zornitza Stark Publications for gene: C21orf59 were set to
Mendeliome v0.2704 C21orf59 Zornitza Stark Mode of inheritance for gene: C21orf59 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2703 C21orf59 Zornitza Stark Tag new gene name tag was added to gene: C21orf59.
Mendeliome v0.2703 C21orf59 Zornitza Stark reviewed gene: C21orf59: Rating: GREEN; Mode of pathogenicity: None; Publications: 24094744; Phenotypes: Ciliary dyskinesia, primary, 26, MIM# 615500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2703 WISP3 Zornitza Stark Gene: wisp3 has been classified as Green List (High Evidence).
Mendeliome v0.2703 WISP3 Zornitza Stark Phenotypes for gene: WISP3 were changed from to Arthropathy, progressive pseudorheumatoid, of childhood, MIM# 208230; Spondyloepiphyseal dysplasia tarda with progressive arthropathy, MIM# 208230
Mendeliome v0.2702 WISP3 Zornitza Stark Publications for gene: WISP3 were set to
Mendeliome v0.2701 WISP3 Zornitza Stark Mode of inheritance for gene: WISP3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2700 WISP3 Zornitza Stark Tag new gene name tag was added to gene: WISP3.
Mendeliome v0.2700 WISP3 Zornitza Stark reviewed gene: WISP3: Rating: GREEN; Mode of pathogenicity: None; Publications: 10471507; Phenotypes: Arthropathy, progressive pseudorheumatoid, of childhood, MIM# 208230, Spondyloepiphyseal dysplasia tarda with progressive arthropathy, MIM# 208230; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2700 ATP5E Zornitza Stark Marked gene: ATP5E as ready
Mendeliome v0.2700 ATP5E Zornitza Stark Gene: atp5e has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2700 ATP5E Zornitza Stark Phenotypes for gene: ATP5E were changed from to Mitochondrial complex V (ATP synthase) deficiency, nuclear type 3 MIM#614053
Mendeliome v0.2699 ATP5E Zornitza Stark Publications for gene: ATP5E were set to
Mendeliome v0.2698 ATP5E Zornitza Stark Mode of inheritance for gene: ATP5E was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2697 ATP5E Zornitza Stark Classified gene: ATP5E as Amber List (moderate evidence)
Mendeliome v0.2697 ATP5E Zornitza Stark Gene: atp5e has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2696 ATP5E Zornitza Stark Tag new gene name tag was added to gene: ATP5E.
Mendeliome v0.2696 ATP5E Zornitza Stark reviewed gene: ATP5E: Rating: AMBER; Mode of pathogenicity: None; Publications: 20566710, 27626380, 20026007; Phenotypes: Mitochondrial complex V (ATP synthase) deficiency, nuclear type 3 MIM#614053; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2696 ATP5D Zornitza Stark Marked gene: ATP5D as ready
Mendeliome v0.2696 ATP5D Zornitza Stark Gene: atp5d has been classified as Green List (High Evidence).
Mendeliome v0.2696 ATP5D Zornitza Stark Phenotypes for gene: ATP5D were changed from to Mitochondrial complex V (ATP synthase) deficiency, MIM# 618120
Mendeliome v0.2695 ATP5D Zornitza Stark Publications for gene: ATP5D were set to
Mendeliome v0.2694 ATP5D Zornitza Stark Mode of inheritance for gene: ATP5D was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2693 ATP5D Zornitza Stark Tag new gene name tag was added to gene: ATP5D.
Mendeliome v0.2693 ATP5D Zornitza Stark reviewed gene: ATP5D: Rating: GREEN; Mode of pathogenicity: None; Publications: 29478781; Phenotypes: Mitochondrial complex V (ATP synthase) deficiency, MIM# 618120; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2693 ATP5A1 Zornitza Stark Marked gene: ATP5A1 as ready
Mendeliome v0.2693 ATP5A1 Zornitza Stark Added comment: Comment when marking as ready: HGNC approved name: ATP5F1A
Mendeliome v0.2693 ATP5A1 Zornitza Stark Gene: atp5a1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2693 ATP5A1 Zornitza Stark Phenotypes for gene: ATP5A1 were changed from to Combined oxidative phosphorylation deficiency 22 616045; Mitochondrial complex V (ATP synthase) deficiency nuclear type 4, 615228
Mendeliome v0.2692 ATP5A1 Zornitza Stark Tag new gene name tag was added to gene: ATP5A1.
Mendeliome v0.2692 ATP5A1 Zornitza Stark Publications for gene: ATP5A1 were set to
Mendeliome v0.2691 ATP5A1 Zornitza Stark Mode of inheritance for gene: ATP5A1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2690 ATP5A1 Zornitza Stark Classified gene: ATP5A1 as Amber List (moderate evidence)
Mendeliome v0.2690 ATP5A1 Zornitza Stark Gene: atp5a1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2689 ATP5A1 Zornitza Stark reviewed gene: ATP5A1: Rating: AMBER; Mode of pathogenicity: None; Publications: 23599390; Phenotypes: Combined oxidative phosphorylation deficiency 22 616045, Mitochondrial complex V (ATP synthase) deficiency nuclear type 4, 615228; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2689 GLDC Zornitza Stark Gene: gldc has been classified as Green List (High Evidence).
Mendeliome v0.2689 GLDC Zornitza Stark Phenotypes for gene: GLDC were changed from to Glycine encephalopathy (MIM#605899)
Mendeliome v0.2688 GLDC Zornitza Stark Publications for gene: GLDC were set to
Mendeliome v0.2687 GLDC Zornitza Stark Mode of inheritance for gene: GLDC was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2686 GLDC Crystle Lee reviewed gene: GLDC: Rating: GREEN; Mode of pathogenicity: None; Publications: 27362913; Phenotypes: Glycine encephalopathy (MIM#605899); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2686 CD4 Zornitza Stark reviewed gene: CD4: Rating: AMBER; Mode of pathogenicity: None; Publications: 31781092; Phenotypes: Absence of CD4+ T cells, exuberant, relapsing, treatment-refractory warts; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2686 TNK2 Zornitza Stark Mode of inheritance for gene: TNK2 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.2685 TNK2 Zornitza Stark Marked gene: TNK2 as ready
Mendeliome v0.2685 TNK2 Zornitza Stark Gene: tnk2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2685 TNK2 Zornitza Stark Phenotypes for gene: TNK2 were changed from to late onset infantile epilepsy; Mayer-Rokitansky-Küster-Hauser syndrome
Mendeliome v0.2684 TNK2 Zornitza Stark Publications for gene: TNK2 were set to
Mendeliome v0.2683 TNK2 Zornitza Stark Mode of inheritance for gene: TNK2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2682 TNK2 Zornitza Stark Classified gene: TNK2 as Amber List (moderate evidence)
Mendeliome v0.2682 TNK2 Zornitza Stark Gene: tnk2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2681 MAN2B2 Zornitza Stark Gene: man2b2 has been classified as Red List (Low Evidence).
Mendeliome v0.2681 MAN2B2 Zornitza Stark gene: MAN2B2 was added
gene: MAN2B2 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: MAN2B2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MAN2B2 were set to 31775018
Phenotypes for gene: MAN2B2 were set to Congenital disorder of glycosylation; immunodeficiency
Review for gene: MAN2B2 was set to RED
Added comment: Single individual reported.
Sources: Literature
Mendeliome v0.2680 TNK2 Elena Savva reviewed gene: TNK2: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID 27977884, 23686771, 31517310; Phenotypes: late onset infantile epilepsy, Mayer-Rokitansky-Küster-Hauser syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2680 RIPK1 Zornitza Stark Gene: ripk1 has been classified as Green List (High Evidence).
Mendeliome v0.2680 RIPK1 Zornitza Stark Phenotypes for gene: RIPK1 were changed from to Immunodeficiency 57, MIM#618108
Mendeliome v0.2679 RIPK1 Zornitza Stark Publications for gene: RIPK1 were set to
Mendeliome v0.2678 RIPK1 Zornitza Stark Mode of inheritance for gene: RIPK1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.2677 RIPK1 Zornitza Stark reviewed gene: RIPK1: Rating: GREEN; Mode of pathogenicity: None; Publications: 30026316, 30591564, 31213653, 31827280; Phenotypes: Immunodeficiency 57, MIM#618108; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.2677 PIK3CG Zornitza Stark Gene: pik3cg has been classified as Green List (High Evidence).
Mendeliome v0.2677 PIK3CG Zornitza Stark Classified gene: PIK3CG as Green List (high evidence)
Mendeliome v0.2677 PIK3CG Zornitza Stark Gene: pik3cg has been classified as Green List (High Evidence).
Mendeliome v0.2676 PIK3CG Zornitza Stark gene: PIK3CG was added
gene: PIK3CG was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: PIK3CG was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PIK3CG were set to 32001535; 31554793
Phenotypes for gene: PIK3CG were set to Immune dysregulation; HLH-like; childhood-onset antibody defects; cytopenias; T lymphocytic pneumonitis and colitis
Review for gene: PIK3CG was set to GREEN
Added comment: Two individuals with complex immunological phenotypes reported and a mouse model.
Sources: Literature
Mendeliome v0.2675 RC3H1 Zornitza Stark Gene: rc3h1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2675 RC3H1 Zornitza Stark Classified gene: RC3H1 as Amber List (moderate evidence)
Mendeliome v0.2675 RC3H1 Zornitza Stark Gene: rc3h1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2675 RC3H1 Zornitza Stark Classified gene: RC3H1 as Amber List (moderate evidence)
Mendeliome v0.2675 RC3H1 Zornitza Stark Gene: rc3h1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2674 RC3H1 Zornitza Stark changed review comment from: Single individual with bi-allelic LoF variant and relapsing HLH reported, some functional data.
Sources: Literature; to: Single individual with bi-allelic LoF variant and relapsing HLH reported, some functional data including mouse model.
Sources: Literature
Mendeliome v0.2674 RC3H1 Zornitza Stark edited their review of gene: RC3H1: Changed rating: AMBER; Changed publications: 31636267, 15917799
Mendeliome v0.2674 RC3H1 Zornitza Stark gene: RC3H1 was added
gene: RC3H1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: RC3H1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RC3H1 were set to 31636267
Phenotypes for gene: RC3H1 were set to Relapsing HLH
Review for gene: RC3H1 was set to RED
Added comment: Single individual with bi-allelic LoF variant and relapsing HLH reported, some functional data.
Sources: Literature
Mendeliome v0.2673 IFNG Zornitza Stark Gene: ifng has been classified as Red List (Low Evidence).
Mendeliome v0.2673 IFNG Zornitza Stark Phenotypes for gene: IFNG were changed from to Mendelian susceptibility to mycobacterial disease
Mendeliome v0.2672 IFNG Zornitza Stark Publications for gene: IFNG were set to
Mendeliome v0.2671 IFNG Zornitza Stark Mode of inheritance for gene: IFNG was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2670 IFNG Zornitza Stark Classified gene: IFNG as Red List (low evidence)
Mendeliome v0.2670 IFNG Zornitza Stark Gene: ifng has been classified as Red List (Low Evidence).
Mendeliome v0.2669 IFNG Zornitza Stark reviewed gene: IFNG: Rating: RED; Mode of pathogenicity: None; Publications: 32163377; Phenotypes: Mendelian susceptibility to mycobacterial disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2669 ITPKB Zornitza Stark gene: ITPKB was added
gene: ITPKB was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: ITPKB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ITPKB were set to 31987846
Phenotypes for gene: ITPKB were set to Severe combined immunodeficiency, absent T cells, present B cells and NK cells
Review for gene: ITPKB was set to RED
Added comment: Single individual with homozygous bi-allelic LoF variant reported.
Sources: Literature
Mendeliome v0.2668 PSMB10 Zornitza Stark Gene: psmb10 has been classified as Red List (Low Evidence).
Mendeliome v0.2668 PSMB10 Zornitza Stark gene: PSMB10 was added
gene: PSMB10 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: PSMB10 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PSMB10 were set to 31783057
Phenotypes for gene: PSMB10 were set to Autoinflammatory syndrome
Review for gene: PSMB10 was set to RED
Added comment: PSMB10 is part of the immunoproteasome, and other components cause auto inflammatory disorders. Single individual with homozygous missense variant reported.
Sources: Literature
Mendeliome v0.2667 ABHD12 Zornitza Stark Gene: abhd12 has been classified as Green List (High Evidence).
Mendeliome v0.2667 ABHD12 Zornitza Stark Phenotypes for gene: ABHD12 were changed from to Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract MIM#612674
Mendeliome v0.2666 ABHD12 Zornitza Stark Mode of inheritance for gene: ABHD12 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2665 ABCC6 Zornitza Stark Gene: abcc6 has been classified as Green List (High Evidence).
Mendeliome v0.2665 AAAS Zornitza Stark Gene: aaas has been classified as Green List (High Evidence).
Mendeliome v0.2665 AAAS Zornitza Stark Phenotypes for gene: AAAS were changed from to Achalasia-addisonianism-alacrimia syndrome, MIM#231550
Mendeliome v0.2664 AAAS Zornitza Stark Mode of inheritance for gene: AAAS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2663 NOS2 Zornitza Stark Gene: nos2 has been classified as Red List (Low Evidence).
Mendeliome v0.2663 NOS2 Zornitza Stark Phenotypes for gene: NOS2 were changed from to {Malaria, resistance to} 611162; Disseminated CMV disease
Mendeliome v0.2662 NOS2 Zornitza Stark Publications for gene: NOS2 were set to
Mendeliome v0.2661 NOS2 Zornitza Stark Classified gene: NOS2 as Red List (low evidence)
Mendeliome v0.2661 NOS2 Zornitza Stark Gene: nos2 has been classified as Red List (Low Evidence).
Mendeliome v0.2660 NOS2 Zornitza Stark edited their review of gene: NOS2: Changed rating: RED
Mendeliome v0.2660 NOS2 Zornitza Stark reviewed gene: NOS2: Rating: AMBER; Mode of pathogenicity: None; Publications: 12433515, 31995689; Phenotypes: {Malaria, resistance to} 611162, Disseminated CMV disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2660 SNORA31 Zornitza Stark Gene: snora31 has been classified as Green List (High Evidence).
Mendeliome v0.2660 SNORA31 Zornitza Stark Classified gene: SNORA31 as Green List (high evidence)
Mendeliome v0.2660 SNORA31 Zornitza Stark Gene: snora31 has been classified as Green List (High Evidence).
Mendeliome v0.2659 SNORA31 Zornitza Stark gene: SNORA31 was added
gene: SNORA31 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: SNORA31 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SNORA31 were set to 31806906
Phenotypes for gene: SNORA31 were set to Susceptibility to HSV1 encephalitis
Review for gene: SNORA31 was set to GREEN
Added comment: Five unrelated individuals reported with rare missense variants in this gene, functional data to support susceptibility to herpes simplex encephalitis.
Sources: Expert list
Mendeliome v0.2658 TCOF1 Zornitza Stark Marked gene: TCOF1 as ready
Mendeliome v0.2658 TCOF1 Zornitza Stark Gene: tcof1 has been classified as Green List (High Evidence).
Mendeliome v0.2658 TCOF1 Zornitza Stark Phenotypes for gene: TCOF1 were changed from to Treacher Collins syndrome 1, MIM# 154500
Mendeliome v0.2657 TCOF1 Zornitza Stark Publications for gene: TCOF1 were set to
Mendeliome v0.2656 TCOF1 Zornitza Stark Mode of inheritance for gene: TCOF1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2655 TCOF1 Zornitza Stark reviewed gene: TCOF1: Rating: GREEN; Mode of pathogenicity: None; Publications: 12444270, 15150774, 21951868; Phenotypes: Treacher Collins syndrome 1, MIM# 154500; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2655 EMX2 Zornitza Stark Tag disputed tag was added to gene: EMX2.
Mendeliome v0.2655 EMX2 Zornitza Stark Gene: emx2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2655 EMX2 Zornitza Stark Phenotypes for gene: EMX2 were changed from to Schizencephaly, MIM# 269160
Mendeliome v0.2654 EMX2 Zornitza Stark Publications for gene: EMX2 were set to
Mendeliome v0.2653 EMX2 Zornitza Stark Mode of inheritance for gene: EMX2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2652 EMX2 Zornitza Stark Classified gene: EMX2 as Amber List (moderate evidence)
Mendeliome v0.2652 EMX2 Zornitza Stark Gene: emx2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2651 EMX2 Zornitza Stark reviewed gene: EMX2: Rating: AMBER; Mode of pathogenicity: None; Publications: 8528262, 9359037, 9153481, 9153481, 18409201; Phenotypes: Schizencephaly, MIM# 269160; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2651 ATAD3A Zornitza Stark Phenotypes for gene: ATAD3A were changed from Harel-Yoon syndrome, MIM# 617183 to Harel-Yoon syndrome, MIM# 617183; Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal (PHRINL SYNDROME) 618810
Mendeliome v0.2650 ATAD3A Zornitza Stark Publications for gene: ATAD3A were set to 27640307; 32004445
Mendeliome v0.2649 ATAD3A Zornitza Stark edited their review of gene: ATAD3A: Added comment: Mode of pathogenicity includes:
i) bi-allelic missense and nonsense variants and bi-allelic deletions that create an ATAD3B/ATAD3A fusion gene under the lowly expressed ATAD3B promoter
ii) monoallelic dominant-negative missense variants (either de novo or inherited) and de novo monoallelic duplications creating a dominant negative ATAD3A/ATAD3C fusion gene; Changed publications: 27640307, 32004445, 28549128; Changed phenotypes: Harel-Yoon syndrome, MIM# 617183, Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal (PHRINL SYNDROME) 618810
Mendeliome v0.2649 CTSA Zornitza Stark Marked gene: CTSA as ready
Mendeliome v0.2649 CTSA Zornitza Stark Gene: ctsa has been classified as Green List (High Evidence).
Mendeliome v0.2649 CTSA Zornitza Stark Phenotypes for gene: CTSA were changed from to Galactosialidosis, MIM# 256540; Cathepsin A-related arteriopathy with strokes and leukoencephalopathy
Mendeliome v0.2648 CTSA Zornitza Stark Publications for gene: CTSA were set to
Mendeliome v0.2647 CTSA Zornitza Stark Mode of inheritance for gene: CTSA was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.2646 CTSA Zornitza Stark Deleted their comment
Mendeliome v0.2646 CTSA Zornitza Stark commented on gene: CTSA: Mono-allelic variants cause arteriopathy with strokes and leukodystrophy.
Mendeliome v0.2646 MN1 Zornitza Stark Phenotypes for gene: MN1 were changed from Intellectual disability; dysmophic features; rhombencephalosynapsis to CEBALID syndrome, MIM#618774; Intellectual disability; dysmophic features; rhombencephalosynapsis
Mendeliome v0.2645 MN1 Zornitza Stark edited their review of gene: MN1: Changed phenotypes: CEBALID syndrome, MIM#618774, Intellectual disability, dysmophic features, rhombencephalosynapsis
Mendeliome v0.2645 PI4KA Zornitza Stark Gene: pi4ka has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2645 PI4KA Zornitza Stark Phenotypes for gene: PI4KA were changed from to Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis, MIM# 616531
Mendeliome v0.2644 PI4KA Zornitza Stark Publications for gene: PI4KA were set to
Mendeliome v0.2643 PI4KA Zornitza Stark Mode of inheritance for gene: PI4KA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2642 PI4KA Zornitza Stark Classified gene: PI4KA as Amber List (moderate evidence)
Mendeliome v0.2642 PI4KA Zornitza Stark Gene: pi4ka has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2641 PI4KA Zornitza Stark reviewed gene: PI4KA: Rating: AMBER; Mode of pathogenicity: None; Publications: 25855803; Phenotypes: Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis, MIM# 616531; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2641 CDK5 Zornitza Stark changed review comment from: Single consanguineous family with multiple affected individuals reported.; to: Single consanguineous family with multiple affected individuals reported.
Mendeliome v0.2641 CDK5 Zornitza Stark Gene: cdk5 has been classified as Red List (Low Evidence).
Mendeliome v0.2641 CDK5 Zornitza Stark Phenotypes for gene: CDK5 were changed from to Lissencephaly 7 with cerebellar hypoplasia, MIM# 616342
Mendeliome v0.2640 CDK5 Zornitza Stark Publications for gene: CDK5 were set to
Mendeliome v0.2639 CDK5 Zornitza Stark Mode of inheritance for gene: CDK5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2638 CDK5 Zornitza Stark Classified gene: CDK5 as Red List (low evidence)
Mendeliome v0.2638 CDK5 Zornitza Stark Gene: cdk5 has been classified as Red List (Low Evidence).
Mendeliome v0.2637 CDK5 Zornitza Stark reviewed gene: CDK5: Rating: RED; Mode of pathogenicity: None; Publications: 25560765; Phenotypes: Lissencephaly 7 with cerebellar hypoplasia, MIM# 616342; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2637 VPS51 Zornitza Stark Gene: vps51 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2637 VPS51 Zornitza Stark Classified gene: VPS51 as Amber List (moderate evidence)
Mendeliome v0.2637 VPS51 Zornitza Stark Gene: vps51 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2636 VPS51 Zornitza Stark gene: VPS51 was added
gene: VPS51 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: VPS51 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: VPS51 were set to 30624672; 31207318
Phenotypes for gene: VPS51 were set to Pontocerebellar hypoplasia, type 13, MIM# 618606
Review for gene: VPS51 was set to AMBER
Added comment: Two families reported with bi-allelic variants in this gene and global developmental delay, impaired intellectual development with absent speech, microcephaly, and progressive atrophy of the cerebellar vermis and brainstem. Additional features, including seizures and visual impairment, are variable.
Sources: Expert list
Mendeliome v0.2635 CTSA Zornitza Stark changed review comment from: Bi-allelic variants cause galactosialidosis, and mono-allelic variants cause CARASAL.; to: Bi-allelic variants associated with galactosialidosis, and mono-allelic variants associated with CARASAL.
Mendeliome v0.2635 CTSA Zornitza Stark reviewed gene: CTSA: Rating: GREEN; Mode of pathogenicity: None; Publications: 31177426; Phenotypes: Galactosialidosis, MIM# 256540, Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.2635 CDK19 Zornitza Stark Gene: cdk19 has been classified as Green List (High Evidence).
Mendeliome v0.2635 CDK19 Zornitza Stark Classified gene: CDK19 as Green List (high evidence)
Mendeliome v0.2635 CDK19 Zornitza Stark Gene: cdk19 has been classified as Green List (High Evidence).
Mendeliome v0.2634 CDK19 Zornitza Stark gene: CDK19 was added
gene: CDK19 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: CDK19 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CDK19 were set to 32330417
Phenotypes for gene: CDK19 were set to Intellectual disability; epileptic encephalopathy
Review for gene: CDK19 was set to GREEN
Added comment: Three unrelated individuals with de novo missense variants reported, and intellectual disability/epileptic encephalopathy. Supportive functional data.
Sources: Literature
Mendeliome v0.2633 MNS1 Zornitza Stark Gene: mns1 has been classified as Green List (High Evidence).
Mendeliome v0.2633 MNS1 Zornitza Stark Classified gene: MNS1 as Green List (high evidence)
Mendeliome v0.2633 MNS1 Zornitza Stark Gene: mns1 has been classified as Green List (High Evidence).
Mendeliome v0.2632 MNS1 Zornitza Stark gene: MNS1 was added
gene: MNS1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: MNS1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MNS1 were set to 31534215; 30148830
Phenotypes for gene: MNS1 were set to Heterotaxy; male infertility
Review for gene: MNS1 was set to GREEN
Added comment: Eight families reported altogether, three LoF variants. Four Amish families share same homozygous founder variant, and some of the other reported families are consanguineous and share another founder variant. A reported female with a third variant, also had a homozygous variant in DNAH5 with a blended phenotype postulated.
Sources: Literature
Mendeliome v0.2631 DHX37 Zornitza Stark Gene: dhx37 has been classified as Green List (High Evidence).
Mendeliome v0.2631 DHX37 Zornitza Stark Classified gene: DHX37 as Green List (high evidence)
Mendeliome v0.2631 DHX37 Zornitza Stark Gene: dhx37 has been classified as Green List (High Evidence).
Mendeliome v0.2630 DHX37 Zornitza Stark gene: DHX37 was added
gene: DHX37 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: DHX37 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DHX37 were set to 31337883; 31745530
Phenotypes for gene: DHX37 were set to 46,XY gonadal dysgenesis; testicular regression syndrome (TRS)
Review for gene: DHX37 was set to GREEN
Added comment: Seventeen individuals with 46,XY gonadal dysgenesis reported in two studies.
Sources: Literature
Mendeliome v0.2629 ALPK1 Zornitza Stark Phenotypes for gene: ALPK1 were changed from Periodic fever, aphthous stomatitis, pharyngitis and adenitis (PFAPA) syndrome to Periodic fever, aphthous stomatitis, pharyngitis and adenitis (PFAPA) syndrome; ROSAH syndrome; retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache
Mendeliome v0.2628 ALPK1 Zornitza Stark Classified gene: ALPK1 as Green List (high evidence)
Mendeliome v0.2628 ALPK1 Zornitza Stark Gene: alpk1 has been classified as Green List (High Evidence).
Mendeliome v0.2627 RAMP2 Zornitza Stark Gene: ramp2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2627 RAMP2 Zornitza Stark Classified gene: RAMP2 as Amber List (moderate evidence)
Mendeliome v0.2627 RAMP2 Zornitza Stark Gene: ramp2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2626 RAMP2 Zornitza Stark gene: RAMP2 was added
gene: RAMP2 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: RAMP2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RAMP2 were set to 31000793
Phenotypes for gene: RAMP2 were set to Primary open angle glaucoma
Review for gene: RAMP2 was set to AMBER
Added comment: Six variants identified in 16 of 4763 POAG patients from large cohorts; none identified in 10,953 control individuals. Some functional data.
Sources: Literature
Mendeliome v0.2625 ALPK1 Zornitza Stark changed review comment from: Three unrelated families reported. One of the variants segregated in four affected individuals in one family and another was found to be de novo. The third variant however was not segregated, and is also present in 18 individuals in gnomad. Hence the evidence for variant pathogenicity in this third case is not compelling.
Sources: Literature; to: Three unrelated families reported with PFAPA phenotype. One of the variants segregated in four affected individuals in one family and another was found to be de novo. The third variant however was not segregated, and is also present in 18 individuals in gnomad. Hence the evidence for variant pathogenicity in this third case is not compelling.
Sources: Literature
Mendeliome v0.2625 ALPK1 Zornitza Stark edited their review of gene: ALPK1: Added comment: Six unrelated families reported with same recurrent missense variant c.710C>T, (p.Thr237Met) and ROSAH syndrome phenotype. Pancytopaenia and recurrent infections present in some.; Changed rating: GREEN; Changed publications: 31053777, 30967659, 31939038; Changed phenotypes: Periodic fever, aphthous stomatitis, pharyngitis and adenitis (PFAPA) syndrome, ROSAH syndrome, retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache
Mendeliome v0.2625 MEPE Zornitza Stark Classified gene: MEPE as Amber List (moderate evidence)
Mendeliome v0.2625 MEPE Zornitza Stark Gene: mepe has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2624 MEPE Zornitza Stark gene: MEPE was added
gene: MEPE was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: MEPE was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MEPE were set to 30287925
Phenotypes for gene: MEPE were set to hereditary congenital facial paresis; otosclerosis
Review for gene: MEPE was set to AMBER
Added comment: Single four-generation family reported with variant in this gene segregating nonprogressive HCFP and mixed hearing loss (HL). Damaging variants (truncating/frameshift) found to be enriched in otosclerosis cohort (p = 0.0006–0.0060).
Sources: Literature
Mendeliome v0.2623 PAICS Zornitza Stark Gene: paics has been classified as Red List (Low Evidence).
Mendeliome v0.2623 PAICS Zornitza Stark gene: PAICS was added
gene: PAICS was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: PAICS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PAICS were set to 31600779
Phenotypes for gene: PAICS were set to Polyhydramnios; multiple congenital abnormalities
Review for gene: PAICS was set to RED
Added comment: Two sibs from single family reported with homozygous missense variant. Functional data to demonstrate effect on protein function.
Sources: Literature
Mendeliome v0.2622 GALM Zornitza Stark Gene: galm has been classified as Green List (High Evidence).
Mendeliome v0.2622 GALM Zornitza Stark Classified gene: GALM as Green List (high evidence)
Mendeliome v0.2622 GALM Zornitza Stark Gene: galm has been classified as Green List (High Evidence).
Mendeliome v0.2621 POLR3GL Zornitza Stark Added comment: Comment when marking as ready: Three cases altogether but the phenotypes are very different -- may still represent a spectrum with the more severe phenotypes resulting from truncating variants but further cases needed.
Mendeliome v0.2621 POLR3GL Zornitza Stark Gene: polr3gl has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2621 POLR3GL Zornitza Stark Classified gene: POLR3GL as Amber List (moderate evidence)
Mendeliome v0.2621 POLR3GL Zornitza Stark Gene: polr3gl has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2620 GALM Hazel Phillimore gene: GALM was added
gene: GALM was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: GALM was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GALM were set to PMID: 30451973; 30910422
Phenotypes for gene: GALM were set to galactosaemia; type IV galactosaemia
Review for gene: GALM was set to GREEN
Added comment: Homozygous and compound heterozygous variants (missense, nonsense and frameshift) found in 8 Japanese patients from unrelated families with unexplained galactosaemia. (No variants in GALT, GALK1, and GALE). This is therefore type IV galactosaemia.
In vitro expression analysis and enzyme activity assay of the patients’ peripheral blood mononuclear cells showed total lack of or compromised expression of GALM protein. Loss-of-function mechanism. One homozygote for one of these variants p.(Gly142Arg) in gnomAD (African population). (Wada, Y. et al 2019; PMID: 30451973)
In vitro expression assay and an enzyme activity assay of 67 GALM variants, taken from ExAc database (missense, nonsense, frameshift and splice). 30 variants concluded to be pathogenic due to no protein expression or faint expression. 5 variants with mildly lower levels were determined as likely pathogenic. All concluded to be loss-of-function mechanism. Incidence of galactosaemia by GALM deficiency is comparable to that of other galactosaemias. Carrier frequency and incidence was estimated for different populations. (Iwasawa, S. et al. (2019); PMID: 30910422)
Sources: Literature
Mendeliome v0.2620 POLR3GL Paul De Fazio gene: POLR3GL was added
gene: POLR3GL was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: POLR3GL was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: POLR3GL were set to 31089205; 31695177
Phenotypes for gene: POLR3GL were set to endosteal hyperostosis; oligodontia; growth retardation; facial dysmorphisms; lipodystrophy
Review for gene: POLR3GL was set to AMBER
gene: POLR3GL was marked as current diagnostic
Added comment: Biallelic canonical splice variants were identified in monozygotic twins and another individual with similar phenotypes from 2 unrelated families. Variants were inherited from carrier parents. RNA studies confirmed exon skipping occurs in all affected individuals.

A separate study identified a homozygous nonsense variant in an individual with features of Neonatal progeroid syndrome/Wiedemann–Rautenstrauch syndrome. Quantitative PCR showed reduction in mRNA suggestive of NMD.
Sources: Literature
Mendeliome v0.2620 TSPEAR Zornitza Stark Marked gene: TSPEAR as ready
Mendeliome v0.2620 TSPEAR Zornitza Stark Added comment: Comment when marking as ready: Association with isolated deafness is DISPUTED.
Mendeliome v0.2620 TSPEAR Zornitza Stark Gene: tspear has been classified as Green List (High Evidence).
Mendeliome v0.2620 TSPEAR Zornitza Stark Phenotypes for gene: TSPEAR were changed from to Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis, MIM#618180
Mendeliome v0.2619 TSPEAR Zornitza Stark Publications for gene: TSPEAR were set to
Mendeliome v0.2618 TSPEAR Zornitza Stark Mode of inheritance for gene: TSPEAR was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2617 PDGFRB Zornitza Stark Gene: pdgfrb has been classified as Green List (High Evidence).
Mendeliome v0.2617 PDGFRB Zornitza Stark Phenotypes for gene: PDGFRB were changed from to Premature aging syndrome, Penttinen type, 601812
Mendeliome v0.2616 PDGFRB Zornitza Stark Mode of pathogenicity for gene: PDGFRB was changed from to Other
Mendeliome v0.2615 PDGFRB Zornitza Stark Publications for gene: PDGFRB were set to
Mendeliome v0.2614 PDGFRB Zornitza Stark Mode of inheritance for gene: PDGFRB was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2613 TBL1Y Zornitza Stark Marked gene: TBL1Y as ready
Mendeliome v0.2613 TBL1Y Zornitza Stark Added comment: Comment when marking as ready: Single family, some functional data.
Mendeliome v0.2613 TBL1Y Zornitza Stark Gene: tbl1y has been classified as Red List (Low Evidence).
Mendeliome v0.2613 TBL1Y Zornitza Stark Classified gene: TBL1Y as Red List (low evidence)
Mendeliome v0.2613 TBL1Y Zornitza Stark Gene: tbl1y has been classified as Red List (Low Evidence).
Mendeliome v0.2612 DGCR8 Zornitza Stark Gene: dgcr8 has been classified as Red List (Low Evidence).
Mendeliome v0.2612 DGCR8 Zornitza Stark Classified gene: DGCR8 as Red List (low evidence)
Mendeliome v0.2612 DGCR8 Zornitza Stark Gene: dgcr8 has been classified as Red List (Low Evidence).
Mendeliome v0.2611 TSPEAR Chern Lim changed review comment from: Still a rare disease gene for ectodermal dysplasia but has been reported in at least 3 unrelated families. Functional study supported LoF. (PMIDs: 27736875, 30046887); to: Still a rare disease gene for ectodermal dysplasia but has been reported in at least 3 unrelated families in 2 papers. Functional study supported LoF. (PMIDs: 27736875, 30046887)
Mendeliome v0.2611 TSPEAR Chern Lim reviewed gene: TSPEAR: Rating: GREEN; Mode of pathogenicity: None; Publications: 27736875, 30046887; Phenotypes: Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis, MIM#618180; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.2611 PDGFRB Ee Ming Wong changed review comment from: - > 3 unrelated families
- Functional studies on patient fibroblasts, HeLa and HEK293 cells harbouring mutant constructs demonstrate constitutive tyrosine kinase activation (gain of function) compared with WT constructs; to: - > 3 unrelated individuals diagnosed with Penttinen syndrome
- Functional studies on patient fibroblasts, HeLa and HEK293 cells harbouring mutant constructs demonstrate constitutive tyrosine kinase activation (gain of function) compared with WT constructs
Mendeliome v0.2611 PDGFRB Ee Ming Wong reviewed gene: PDGFRB: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 30573803, 26279204; Phenotypes: Premature aging syndrome, Penttinen type, 601812; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2611 TBL1Y Paul De Fazio changed review comment from: 9 affected males in a single 5-generation pedigree described with Y-linked inheritance pattern. Functional studies show the missense variant causes reduced protein stability. The gene has restricted expression in the cochlea and prostate.
Sources: Literature; to: Y-linked inheritance pattern. Complete segregation of a missense variant demonstrated in 9 affected males in a 5-generation pedigree. Functional studies show the missense variant causes reduced protein stability. The gene has restricted expression in the cochlea and prostate.
Sources: Literature
Mendeliome v0.2611 TBL1Y Paul De Fazio changed review comment from: 9 affected males in a single pedigree described with Y-linked inheritance pattern. Functional studies show the missense variant causes reduced protein stability. The gene has restricted expression in the cochlea and prostate.
Sources: Literature; to: 9 affected males in a single 5-generation pedigree described with Y-linked inheritance pattern. Functional studies show the missense variant causes reduced protein stability. The gene has restricted expression in the cochlea and prostate.
Sources: Literature
Mendeliome v0.2611 TBL1Y Paul De Fazio gene: TBL1Y was added
gene: TBL1Y was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: TBL1Y was set to Other
Publications for gene: TBL1Y were set to 30341416
Phenotypes for gene: TBL1Y were set to Hearing loss
Review for gene: TBL1Y was set to RED
gene: TBL1Y was marked as current diagnostic
Added comment: 9 affected males in a single pedigree described with Y-linked inheritance pattern. Functional studies show the missense variant causes reduced protein stability. The gene has restricted expression in the cochlea and prostate.
Sources: Literature
Mendeliome v0.2611 FOXF2 Zornitza Stark Added comment: Comment when marking as ready: Single family: variant has functional data to demonstrate effect on protein, plus mouse model supports gene-disease association.
Mendeliome v0.2611 FOXF2 Zornitza Stark Gene: foxf2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2611 FOXF2 Zornitza Stark Classified gene: FOXF2 as Amber List (moderate evidence)
Mendeliome v0.2611 FOXF2 Zornitza Stark Gene: foxf2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2610 DGCR8 Chern Lim gene: DGCR8 was added
gene: DGCR8 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: DGCR8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DGCR8 were set to 31805011
Phenotypes for gene: DGCR8 were set to Early-onset multinodular goiter and schwannomatosis
Review for gene: DGCR8 was set to RED
Added comment: A germline missense variant segregates in one family with autosomal dominant mendelian tumor susceptibility syndrome: familial multinodular goiter (MNG) with schwannomatosis. The missense is also a recurrent somatic missense variant in Wilms tumour. (PMID:31805011)
Sources: Literature
Mendeliome v0.2610 TDRD7 Zornitza Stark Phenotypes for gene: TDRD7 were changed from to Cataract 36 613887; glaucoma; nonobstructive azoospermia; arrested spermatogenesis
Mendeliome v0.2609 TDRD7 Zornitza Stark Publications for gene: TDRD7 were set to
Mendeliome v0.2608 TDRD7 Zornitza Stark Mode of inheritance for gene: TDRD7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2607 TDRD7 Ee Ming Wong reviewed gene: TDRD7: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 28837160, 21436445; Phenotypes: cataract, glaucoma, nonobstructive azoospermia, arrested spermatogenesis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2607 FOXF2 Hazel Phillimore changed review comment from: Homozygous missense, NM_001452.1: c.325A>T (p.I109F), in a 10 year old girl (consanguineous, parents were first cousins) with profound sensorineural hearing loss (SNHL) associated with incomplete partition type I anomaly of the cochlea. This variant is absent in the gnomAD v2.1.1. In vitro studies indicated instability, shorter half-life of the protein compared to wildtype. Embryonic knockout mouse showed shortened and malformed cochleae, in addition to altered shape of hair cells with innervation and planar cell polarity defects. Homozygous knockout mice do not survive. (Bademci, G. et al. (2019); PMID: 30561639).
This gene has also been reported in association with other anomalies including cleft lip, cleft palate, brain anomalies, intestine anomalies, and eye anomalies. Eye anomalies include anterior segment dysgenesis, as shown in mice with variant, W174R, affecting the Fox domain. Homozygote mice do not survive. (McKeone, R. et al. (2011); PMID: 22022403).
Sources: Literature; to: Homozygous missense, NM_001452.1: c.325A>T (p.I109F), in a 10 year old girl (consanguineous, parents were first cousins) with profound sensorineural hearing loss (SNHL) associated with incomplete partition type I anomaly of the cochlea. This variant is absent in the gnomAD v2.1.1. In vitro studies indicated instability, shorter half-life of the protein compared to wildtype. Embryonic knockout mouse showed shortened and malformed cochleae, in addition to altered shape of hair cells with innervation and planar cell polarity defects. Homozygous knockout mice do not survive. (Bademci, G. et al. (2019); PMID: 30561639).
This gene has also been reported in association with other anomalies including cleft lip, cleft palate, brain anomalies, intestine anomalies, and eye anomalies. Eye anomalies include anterior segment dysgenesis, as shown in mice with variant, W174R, affecting the Fox domain. Homozygote mice do not survive. (McKeone, R. et al. (2011); PMID: 22022403).
Previous names for FOXF2 include FKHL6 and FREAC2.
Sources: Literature
Mendeliome v0.2607 FOXF2 Hazel Phillimore gene: FOXF2 was added
gene: FOXF2 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: FOXF2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FOXF2 were set to PMID: 30561639; 22022403
Phenotypes for gene: FOXF2 were set to profound sensorineural hearing loss (SNHL); cochlea malformations; incomplete partition type I anomaly of the cochlea
Review for gene: FOXF2 was set to AMBER
Added comment: Homozygous missense, NM_001452.1: c.325A>T (p.I109F), in a 10 year old girl (consanguineous, parents were first cousins) with profound sensorineural hearing loss (SNHL) associated with incomplete partition type I anomaly of the cochlea. This variant is absent in the gnomAD v2.1.1. In vitro studies indicated instability, shorter half-life of the protein compared to wildtype. Embryonic knockout mouse showed shortened and malformed cochleae, in addition to altered shape of hair cells with innervation and planar cell polarity defects. Homozygous knockout mice do not survive. (Bademci, G. et al. (2019); PMID: 30561639).
This gene has also been reported in association with other anomalies including cleft lip, cleft palate, brain anomalies, intestine anomalies, and eye anomalies. Eye anomalies include anterior segment dysgenesis, as shown in mice with variant, W174R, affecting the Fox domain. Homozygote mice do not survive. (McKeone, R. et al. (2011); PMID: 22022403).
Sources: Literature
Mendeliome v0.2607 COL13A1 Zornitza Stark Gene: col13a1 has been classified as Green List (High Evidence).
Mendeliome v0.2607 COL13A1 Zornitza Stark Phenotypes for gene: COL13A1 were changed from to Myasthenic syndrome, congenital, 19 (OMIM #616720)
Mendeliome v0.2606 COL13A1 Zornitza Stark Publications for gene: COL13A1 were set to
Mendeliome v0.2605 COL13A1 Zornitza Stark Mode of inheritance for gene: COL13A1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2604 KIAA1161 Zornitza Stark Phenotypes for gene: KIAA1161 were changed from Basal ganglia calcification, idiopathic, 7, autosomal recessive; OMIM #618317 to Basal ganglia calcification, idiopathic, 7, autosomal recessive; OMIM #618317; primary familial brain calcifications (PFBC); ataxia; dysarthria; cerebellar atrophy; akinetic-hypertonic syndrome
Mendeliome v0.2603 KIAA1161 Zornitza Stark Publications for gene: KIAA1161 were set to 30656188; 30649222; 30460687; 29910000
Mendeliome v0.2602 COL13A1 Hazel Phillimore reviewed gene: COL13A1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31081514, 28369367, 20844119; Phenotypes: Myasthenic syndrome, congenital, 19 (OMIM #616720); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2602 KIAA1161 Hazel Phillimore reviewed gene: KIAA1161: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 29910000, 31009047; Phenotypes: Basal ganglia calcification, idiopathic, 7, autosomal recessive (OMIM #618317), primary familial brain calcifications (PFBC), ataxia, dysarthria, cerebellar atrophy, akinetic-hypertonic syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2602 CACNB4 Zornitza Stark changed review comment from: One multigenerational family and supportive animal model data.; to: One multigenerational family with ataxia and supportive animal model data.
Mendeliome v0.2602 CACNB4 Zornitza Stark edited their review of gene: CACNB4: Added comment: PMID 32176688: A homozygous missense variant (Leu126Pro) reported in two siblings with intellectual disability, psychomotor retardation, blindness, epilepsy, movement disorder and cerebellar atrophy. Some functional data.; Changed publications: 10762541, 9628818, 27003325, 32176688; Changed phenotypes: Episodic ataxia, type 5, MIM#613855, Intellectual disability, Epilepsy, Movement disorder
Mendeliome v0.2602 WDR83OS Zornitza Stark Gene: wdr83os has been classified as Red List (Low Evidence).
Mendeliome v0.2602 WDR83OS Zornitza Stark Publications for gene: WDR83OS were set to PMID: 30250217
Mendeliome v0.2601 WDR83OS Zornitza Stark Classified gene: WDR83OS as Red List (low evidence)
Mendeliome v0.2601 WDR83OS Zornitza Stark Gene: wdr83os has been classified as Red List (Low Evidence).
Mendeliome v0.2600 LSR Zornitza Stark Gene: lsr has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2600 LSR Zornitza Stark Publications for gene: LSR were set to PMID: 30250217
Mendeliome v0.2599 LSR Zornitza Stark Classified gene: LSR as Amber List (moderate evidence)
Mendeliome v0.2599 LSR Zornitza Stark Gene: lsr has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2598 WDR83OS Ee Ming Wong gene: WDR83OS was added
gene: WDR83OS was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: WDR83OS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: WDR83OS were set to PMID: 30250217
Phenotypes for gene: WDR83OS were set to Cholestasis
Review for gene: WDR83OS was set to RED
Added comment: - 1 consanguineous family with 3 affected individuals found to carry a homozygous splice site variant in WDR83OS
- The variant results in an aberrant truncated RNA transcript as demonstrated by RT-PCR
Sources: Literature
Mendeliome v0.2598 LSR Zornitza Stark reviewed gene: LSR: Rating: AMBER; Mode of pathogenicity: None; Publications: 32303357, 30250217; Phenotypes: Cholestasis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2598 LSR Zornitza Stark Deleted their review
Mendeliome v0.2598 LSR Zornitza Stark Classified gene: LSR as Green List (high evidence)
Mendeliome v0.2598 LSR Zornitza Stark Gene: lsr has been classified as Green List (High Evidence).
Mendeliome v0.2597 LSR Zornitza Stark reviewed gene: LSR: Rating: GREEN; Mode of pathogenicity: None; Publications: 32303357; Phenotypes: Cholestasis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2597 LSR Zornitza Stark Classified gene: LSR as Amber List (moderate evidence)
Mendeliome v0.2597 LSR Zornitza Stark Gene: lsr has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2596 USP53 Zornitza Stark Publications for gene: USP53 were set to PMID: 30250217
Mendeliome v0.2595 LSR Ee Ming Wong reviewed gene: LSR: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 32303357, 30250217; Phenotypes: Intrahepatic cholestasis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2595 USP53 Zornitza Stark Gene: usp53 has been classified as Green List (High Evidence).
Mendeliome v0.2595 USP53 Zornitza Stark Phenotypes for gene: USP53 were changed from Deafness to Cholestasis; deafness
Mendeliome v0.2594 USP53 Zornitza Stark Classified gene: USP53 as Green List (high evidence)
Mendeliome v0.2594 USP53 Zornitza Stark Gene: usp53 has been classified as Green List (High Evidence).
Mendeliome v0.2593 USP53 Zornitza Stark reviewed gene: USP53: Rating: GREEN; Mode of pathogenicity: None; Publications: 32124521; Phenotypes: Cholestasis, deafness; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2593 LSR Ee Ming Wong Deleted their review
Mendeliome v0.2593 USP53 Zornitza Stark Classified gene: USP53 as Red List (low evidence)
Mendeliome v0.2593 USP53 Zornitza Stark Gene: usp53 has been classified as Red List (Low Evidence).
Mendeliome v0.2592 LSR Ee Ming Wong gene: LSR was added
gene: LSR was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: LSR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LSR were set to PMID: 30250217
Phenotypes for gene: LSR were set to transient neonatal cholestasis; intellectual disability; short stature
Review for gene: LSR was set to RED
Added comment: 1 individual from 1 consanguineous family carrying a homozygous missense variant in LSR
Sources: Literature
Mendeliome v0.2592 PPM1F Zornitza Stark Gene: ppm1f has been classified as Red List (Low Evidence).
Mendeliome v0.2592 PPM1F Zornitza Stark Classified gene: PPM1F as Red List (low evidence)
Mendeliome v0.2592 PPM1F Zornitza Stark Gene: ppm1f has been classified as Red List (Low Evidence).
Mendeliome v0.2591 USP53 Ee Ming Wong gene: USP53 was added
gene: USP53 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: USP53 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: USP53 were set to PMID: 30250217
Phenotypes for gene: USP53 were set to Deafness
Review for gene: USP53 was set to RED
Added comment: 1 consanguineous family carrying a homozygous truncating variant in USP53
Sources: Literature
Mendeliome v0.2591 PPM1F Ee Ming Wong gene: PPM1F was added
gene: PPM1F was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: PPM1F was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PPM1F were set to PMID: 30250217
Phenotypes for gene: PPM1F were set to sclerosing cholangitis; short stature; hypothyroidism; abnormal tongue pigmentation
Review for gene: PPM1F was set to RED
Added comment: 1 consanguineous family found to carry a homozygous missense variant in PPM1F
Sources: Literature
Mendeliome v0.2591 SPEF2 Zornitza Stark Phenotypes for gene: SPEF2 were changed from Spermatogenic failure 43, MIM#618751 to Spermatogenic failure 43, MIM#618751; Spermatogenic failure 43, MIM#618751; Primary ciliary dyskinesia-like phenotype
Mendeliome v0.2590 SPEF2 Zornitza Stark Publications for gene: SPEF2 were set to 31151990; 31278745; 31048344
Mendeliome v0.2589 SPEF2 Zornitza Stark reviewed gene: SPEF2: Rating: GREEN; Mode of pathogenicity: None; Publications: 31942643; Phenotypes: Spermatogenic failure 43, MIM#618751, Primary ciliary dyskinesia-like phenotype; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2589 KLC2 Zornitza Stark Gene: klc2 has been classified as Green List (High Evidence).
Mendeliome v0.2589 KLC2 Zornitza Stark Tag SV/CNV tag was added to gene: KLC2.
Mendeliome v0.2589 KLC2 Zornitza Stark Classified gene: KLC2 as Green List (high evidence)
Mendeliome v0.2589 KLC2 Zornitza Stark Gene: klc2 has been classified as Green List (High Evidence).
Mendeliome v0.2588 KLC2 Zornitza Stark gene: KLC2 was added
gene: KLC2 was added to Mendeliome. Sources: Expert Review
Mode of inheritance for gene: KLC2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KLC2 were set to 26385635
Phenotypes for gene: KLC2 were set to Spastic paraplegia, optic atrophy, and neuropathy MIM#609541
Review for gene: KLC2 was set to GREEN
Added comment: In 73 Brazilian patients and 2 sibs of Egyptian descent with SPOAN, a homozygous 216-bp deletion in the noncoding upstream region of the KLC2 gene was identified. Only reported cause of condition is the upstream large deletion, which is not detected by whole-exome sequencing.
Sources: Expert Review
Mendeliome v0.2587 KIF12 Zornitza Stark Phenotypes for gene: KIF12 were changed from Prenatal cholestasis; High Gamma-Glutamyltransferase (GGT) to Cholestasis; High Gamma-Glutamyltransferase (GGT)
Mendeliome v0.2586 KIF12 Zornitza Stark Gene: kif12 has been classified as Green List (High Evidence).
Mendeliome v0.2586 KIF12 Zornitza Stark Publications for gene: KIF12 were set to PMID: 30250217; 30976738
Mendeliome v0.2585 KIF12 Zornitza Stark Classified gene: KIF12 as Green List (high evidence)
Mendeliome v0.2585 KIF12 Zornitza Stark Gene: kif12 has been classified as Green List (High Evidence).
Mendeliome v0.2584 KIF12 Zornitza Stark reviewed gene: KIF12: Rating: GREEN; Mode of pathogenicity: None; Publications: 30250217, 30976738; Phenotypes: Cholestasis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2584 ALPK1 Zornitza Stark Gene: alpk1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2584 ALPK1 Zornitza Stark Classified gene: ALPK1 as Amber List (moderate evidence)
Mendeliome v0.2584 ALPK1 Zornitza Stark Gene: alpk1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2583 ALPK1 Zornitza Stark gene: ALPK1 was added
gene: ALPK1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: ALPK1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ALPK1 were set to 31053777
Phenotypes for gene: ALPK1 were set to Periodic fever, aphthous stomatitis, pharyngitis and adenitis (PFAPA) syndrome
Review for gene: ALPK1 was set to AMBER
Added comment: Three unrelated families reported. One of the variants segregated in four affected individuals in one family and another was found to be de novo. The third variant however was not segregated, and is also present in 18 individuals in gnomad. Hence the evidence for variant pathogenicity in this third case is not compelling.
Sources: Literature
Mendeliome v0.2582 LRRC32 Zornitza Stark Gene: lrrc32 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2582 LRRC32 Zornitza Stark Classified gene: LRRC32 as Amber List (moderate evidence)
Mendeliome v0.2582 LRRC32 Zornitza Stark Gene: lrrc32 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2581 LRRC32 Zornitza Stark gene: LRRC32 was added
gene: LRRC32 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: LRRC32 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LRRC32 were set to 30976112
Phenotypes for gene: LRRC32 were set to Intellectual disability; cleft palate; proliferative retinopathy
Review for gene: LRRC32 was set to AMBER
Added comment: Three individuals from two consanguineous families segregated the same homozygous bi-allelic variant, c.1630C>T; p.(Arg544Ter), shared haplotype indicative of founder effect. Mouse model has cleft palate and neonatal death.
Sources: Literature
Mendeliome v0.2580 KIF12 Ee Ming Wong gene: KIF12 was added
gene: KIF12 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: KIF12 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KIF12 were set to PMID: 30250217; 30976738
Phenotypes for gene: KIF12 were set to Prenatal cholestasis; High Gamma-Glutamyltransferase (GGT)
Review for gene: KIF12 was set to AMBER
gene: KIF12 was marked as current diagnostic
Added comment: > 3 unrelated families,but they are all consanguineous families
Sources: Literature
Mendeliome v0.2580 CSGALNACT1 Zornitza Stark Publications for gene: CSGALNACT1 were set to
Mendeliome v0.2579 CSGALNACT1 Zornitza Stark reviewed gene: CSGALNACT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31705726, 31325655; Phenotypes: Congenital disorder of glycosylation, skeletal dysplasia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2579 UBAP1 Zornitza Stark Phenotypes for gene: UBAP1 were changed from Spastic paraplegia 80, autosomal dominant 618418 to Childhood-onset hereditary spastic paraplegia; Spastic paraplegia 80, autosomal dominant 618418
Mendeliome v0.2578 UBAP1 Zornitza Stark Publications for gene: UBAP1 were set to 31203368
Mendeliome v0.2577 UBAP1 Zornitza Stark reviewed gene: UBAP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31696996; Phenotypes: Childhood-onset hereditary spastic paraplegia, Spastic paraplegia 80, autosomal dominant 618418; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2577 RHOA Zornitza Stark Phenotypes for gene: RHOA were changed from normal cognition; leukoencephalopathy; micro-ophthalmia; strabismus; linear hypopigmentation; malar hypoplasia; downslanting palpebral fissures; microstomia to normal cognition; leukoencephalopathy; micro-ophthalmia; strabismus; linear hypopigmentation; malar hypoplasia; downslanting palpebral fissures; microstomia; dental anomalies; body asymmetry; limb length discrepancy
Mendeliome v0.2576 RHOA Zornitza Stark Publications for gene: RHOA were set to 31570889
Mendeliome v0.2575 RHOA Zornitza Stark reviewed gene: RHOA: Rating: GREEN; Mode of pathogenicity: None; Publications: 31821646; Phenotypes: hypopigmented areas of the skin, dental anomalies, body asymmetry, limb length discrepancy, MRI abnormalities; Mode of inheritance: Other
Mendeliome v0.2575 IQCE Zornitza Stark Gene: iqce has been classified as Green List (High Evidence).
Mendeliome v0.2575 IQCE Zornitza Stark Classified gene: IQCE as Green List (high evidence)
Mendeliome v0.2575 IQCE Zornitza Stark Gene: iqce has been classified as Green List (High Evidence).
Mendeliome v0.2574 IQCE Zornitza Stark gene: IQCE was added
gene: IQCE was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: IQCE was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IQCE were set to 31549751; 28488682
Phenotypes for gene: IQCE were set to Postaxial polydactyly
Review for gene: IQCE was set to GREEN
Added comment: Four families reported with bi-allelic variants in this gene. The c.895_904del (p.Val301Serfs*8) was found in three of the families without sharing a common haplotype, suggesting a recurrent mechanism. RNA expression analysis on patients’ fibroblasts showed that the dysfunction of IQCE leads to the dysregulation of genes associated with the hedgehog‐signaling pathway, and zebrafish experiments demonstrated a full spectrum of phenotypes linked to defective cilia: Body curvature, kidney cysts, left–right asymmetry, misdirected cilia in the pronephric duct, and retinal defects.
Sources: Literature
Mendeliome v0.2573 NKX2-3 Zornitza Stark Gene: nkx2-3 has been classified as Red List (Low Evidence).
Mendeliome v0.2573 NKX2-3 Zornitza Stark gene: NKX2-3 was added
gene: NKX2-3 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: NKX2-3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NKX2-3 were set to 31498527
Phenotypes for gene: NKX2-3 were set to Intestinal varicosities
Review for gene: NKX2-3 was set to RED
Added comment: Single multiplex family where truncating variant in this gene segregated with intestinal varicosities with a LOD score of 3.3. NKX2‐3 is a component of a molecular pathway underlying spleen and gut vasculature development in mice.
Sources: Literature
Mendeliome v0.2572 RPSA Zornitza Stark changed review comment from: Four families reported with mono allelic variants and idiopathic intestinal varies.; to: Four families reported with mono allelic variants and idiopathic intestinal varies, often in combination with asplenia.
Mendeliome v0.2572 RPSA Zornitza Stark Gene: rpsa has been classified as Green List (High Evidence).
Mendeliome v0.2572 RPSA Zornitza Stark Phenotypes for gene: RPSA were changed from to Asplenia, isolated congenital 271400; Idiopathic intestinal varices
Mendeliome v0.2571 RPSA Zornitza Stark Publications for gene: RPSA were set to
Mendeliome v0.2570 RPSA Zornitza Stark Mode of inheritance for gene: RPSA was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2569 RPSA Zornitza Stark reviewed gene: RPSA: Rating: GREEN; Mode of pathogenicity: None; Publications: 23579497, 31498527; Phenotypes: Asplenia, isolated congenital 271400, Idiopathic intestinal varices; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2569 TBX6 Zornitza Stark Phenotypes for gene: TBX6 were changed from to Skeletal dysplasia; spondylocostal dysostosis; congenital scoliosis
Mendeliome v0.2568 TBX6 Zornitza Stark Publications for gene: TBX6 were set to
Mendeliome v0.2567 CRAT Zornitza Stark Marked gene: CRAT as ready
Mendeliome v0.2567 CRAT Zornitza Stark Gene: crat has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2567 CRAT Zornitza Stark Classified gene: CRAT as Amber List (moderate evidence)
Mendeliome v0.2567 CRAT Zornitza Stark Gene: crat has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2566 CRAT Zornitza Stark gene: CRAT was added
gene: CRAT was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: CRAT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CRAT were set to 29395073; 31448845
Phenotypes for gene: CRAT were set to Neurodegeneration with brain iron accumulation 8, MIM# 617917; Leigh syndrome
Review for gene: CRAT was set to AMBER
Added comment: Two unrelated families reported with bi-allelic variants, one with NBIA and one with Leigh syndrome phenotype.
Sources: Literature
Mendeliome v0.2565 CWF19L1 Zornitza Stark Gene: cwf19l1 has been classified as Green List (High Evidence).
Mendeliome v0.2565 CWF19L1 Zornitza Stark Phenotypes for gene: CWF19L1 were changed from to Spinocerebellar ataxia, autosomal recessive 17, MIM#616127; intellectual disability, developmental delay
Mendeliome v0.2564 CWF19L1 Zornitza Stark Publications for gene: CWF19L1 were set to
Mendeliome v0.2563 CWF19L1 Zornitza Stark Mode of inheritance for gene: CWF19L1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2562 CWF19L1 Zornitza Stark reviewed gene: CWF19L1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25361784, 15981765, 26197978, 27016154, 30167849; Phenotypes: Spinocerebellar ataxia, autosomal recessive 17, MIM#616127, intellectual disability, developmental delay; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2562 B4GAT1 Zornitza Stark Classified gene: B4GAT1 as Green List (high evidence)
Mendeliome v0.2562 B4GAT1 Zornitza Stark Gene: b4gat1 has been classified as Green List (High Evidence).
Mendeliome v0.2561 B4GAT1 Zornitza Stark changed review comment from: Two families reported.; to: Two families reported and two animal models.
Mendeliome v0.2561 B4GAT1 Zornitza Stark edited their review of gene: B4GAT1: Changed rating: GREEN; Changed publications: 23359570, 23877401, 23359570, 23217742
Mendeliome v0.2561 B4GAT1 Zornitza Stark Marked gene: B4GAT1 as ready
Mendeliome v0.2561 B4GAT1 Zornitza Stark Gene: b4gat1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2561 B4GAT1 Zornitza Stark Phenotypes for gene: B4GAT1 were changed from to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13 MIM# 615287
Mendeliome v0.2560 B4GAT1 Zornitza Stark Publications for gene: B4GAT1 were set to
Mendeliome v0.2559 B4GAT1 Zornitza Stark Mode of inheritance for gene: B4GAT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2558 B4GAT1 Zornitza Stark Classified gene: B4GAT1 as Amber List (moderate evidence)
Mendeliome v0.2558 B4GAT1 Zornitza Stark Gene: b4gat1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2557 B4GAT1 Zornitza Stark reviewed gene: B4GAT1: Rating: AMBER; Mode of pathogenicity: None; Publications: 23359570, 23877401; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13 MIM# 615287; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2557 RSRC1 Zornitza Stark Classified gene: RSRC1 as Green List (high evidence)
Mendeliome v0.2557 RSRC1 Zornitza Stark Gene: rsrc1 has been classified as Green List (High Evidence).
Mendeliome v0.2556 THG1L Zornitza Stark changed review comment from: Five individuals from two Ashkenazi Jewish families with same homozygous missense variant, and another family ascertained through a large microcephaly cohort, also with SCA.
Sources: Literature; to: Four Ashkenazi Jewish families with same homozygous missense variant, and another family ascertained through a large microcephaly cohort, also with SCA. A carrier rate of 0.8%, but no THG1L V55A homozygotes, was found in a cohort of 3,232 unrelated Ashkenazi Jewish individuals, and no homozygotes found in Exac or gnomAD.
Sources: Literature
Mendeliome v0.2556 THG1L Zornitza Stark edited their review of gene: THG1L: Changed rating: GREEN; Changed phenotypes: Spinocerebellar ataxia, autosomal recessive 28, MIM# 618800
Mendeliome v0.2556 THG1L Zornitza Stark Marked gene: THG1L as ready
Mendeliome v0.2556 THG1L Zornitza Stark Gene: thg1l has been classified as Green List (High Evidence).
Mendeliome v0.2556 THG1L Zornitza Stark Classified gene: THG1L as Green List (high evidence)
Mendeliome v0.2556 THG1L Zornitza Stark Gene: thg1l has been classified as Green List (High Evidence).
Mendeliome v0.2555 THG1L Zornitza Stark Classified gene: THG1L as Amber List (moderate evidence)
Mendeliome v0.2555 THG1L Zornitza Stark Gene: thg1l has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2554 THG1L Zornitza Stark gene: THG1L was added
gene: THG1L was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: THG1L was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: THG1L were set to 27307223; 31168944; 30214071
Phenotypes for gene: THG1L were set to Spinocerebellar ataxia, autosomal recessive 28, MIM# 618800
Review for gene: THG1L was set to AMBER
Added comment: Five individuals from two Ashkenazi Jewish families with same homozygous missense variant, and another family ascertained through a large microcephaly cohort, also with SCA.
Sources: Literature
Mendeliome v0.2553 TRPV1 Zornitza Stark Marked gene: TRPV1 as ready
Mendeliome v0.2553 TRPV1 Zornitza Stark Gene: trpv1 has been classified as Red List (Low Evidence).
Mendeliome v0.2553 TRPV1 Zornitza Stark gene: TRPV1 was added
gene: TRPV1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: TRPV1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TRPV1 were set to 29930394
Phenotypes for gene: TRPV1 were set to Susceptibility to malignant hyperthermia
Review for gene: TRPV1 was set to RED
Added comment: Two individuals reported with rare/novel missense variants in this gene, some functional data.
Sources: Literature
Mendeliome v0.2552 ZP2 Zornitza Stark Gene: zp2 has been classified as Green List (High Evidence).
Mendeliome v0.2552 ZP2 Zornitza Stark Classified gene: ZP2 as Green List (high evidence)
Mendeliome v0.2552 ZP2 Zornitza Stark Gene: zp2 has been classified as Green List (High Evidence).
Mendeliome v0.2551 ZP2 Zornitza Stark gene: ZP2 was added
gene: ZP2 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: ZP2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ZP2 were set to 30810869; 29895852
Phenotypes for gene: ZP2 were set to Female infertility
Review for gene: ZP2 was set to GREEN
Added comment: Three unrelated individuals reported with bi-allelic variants in this gene and thin zona pellucida.
Sources: Literature
Mendeliome v0.2550 RSRC1 Zornitza Stark edited their review of gene: RSRC1: Added comment: 17 additional individuals reported.; Changed rating: GREEN; Changed publications: 28640246, 29522154, 32227164; Changed phenotypes: Intellectual developmental disorder, autosomal recessive 70, MIM# 618402
Mendeliome v0.2550 GAD1 Zornitza Stark Classified gene: GAD1 as Green List (high evidence)
Mendeliome v0.2550 GAD1 Zornitza Stark Gene: gad1 has been classified as Green List (High Evidence).
Mendeliome v0.2549 GAD1 Zornitza Stark changed review comment from: Single family reported with bi-allelic variants. Association studies linking with neuropsychiatric issues.; to: Single family reported with bi-allelic variants and CP phenotype. Association studies linking with neuropsychiatric issues.
Mendeliome v0.2549 GAD1 Zornitza Stark edited their review of gene: GAD1: Added comment: 2020: 11 individuals from 6 consanguineous families reported with bi-allelic LOF variant and a developmental/epileptic encephalopathy. Seizure onset occurred in the first 2 months of life in all. All 10 individuals, from whom early disease history was available, presented with seizure onset in the first month of life, mainly consisting of epileptic spasms or myoclonic seizures. Early EEG showed suppression-burst or pattern of burst attenuation or hypsarrhythmia if only recorded in the post-neonatal period. Eight individuals had joint contractures and/or pes equinovarus. Seven presented a cleft palate and two also had an omphalocele, reproducing the phenotype of the knockout Gad1−/− mouse model. Four individuals died before 4 years of age.; Changed rating: GREEN; Changed publications: 15571623, 32282878; Changed phenotypes: Cerebral palsy, spastic quadriplegic, 1, MIM#603513, Developmental and epileptic encephalopathy
Mendeliome v0.2549 GALNT2 Zornitza Stark Classified gene: GALNT2 as Green List (high evidence)
Mendeliome v0.2549 GALNT2 Zornitza Stark Gene: galnt2 has been classified as Green List (High Evidence).
Mendeliome v0.2548 GALNT2 Zornitza Stark gene: GALNT2 was added
gene: GALNT2 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: GALNT2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GALNT2 were set to 32293671
Phenotypes for gene: GALNT2 were set to Congenital disorder of glycosylation
Review for gene: GALNT2 was set to GREEN
Added comment: Seven individuals from four families reported with bi-allelic LOF variants and global developmental delay, intellectual disability with language deficit, autistic features, behavioural abnormalities, epilepsy, chronic insomnia, white matter changes on brain MRI, dysmorphic features, decreased stature, and decreased high density lipoprotein cholesterol levels. Rodent (mouse and rat) models of GALNT2-CDG recapitulated much of the human phenotype, including poor growth and neurodevelopmental abnormalities.
Sources: Literature
Mendeliome v0.2547 C7orf43 Zornitza Stark Added comment: Comment when marking as ready: HGNC approved name: MAP11
Mendeliome v0.2547 C7orf43 Zornitza Stark Gene: c7orf43 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2547 C7orf43 Zornitza Stark Classified gene: C7orf43 as Amber List (moderate evidence)
Mendeliome v0.2547 C7orf43 Zornitza Stark Gene: c7orf43 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2546 C7orf43 Zornitza Stark gene: C7orf43 was added
gene: C7orf43 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: C7orf43 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: C7orf43 were set to 30715179
Phenotypes for gene: C7orf43 were set to Microcephaly 25, primary, autosomal recessive, MIM# 618351
Review for gene: C7orf43 was set to AMBER
Added comment: Single family reported: three affected siblings with homozygous truncating variant. Supportive zebrafish model.
Sources: Literature
Mendeliome v0.2545 PLPBP Zornitza Stark Phenotypes for gene: PLPBP were changed from Epilepsy, early-onset, vitamin B6-dependent, 617290 to Epilepsy, early-onset, vitamin B6-dependent, MIM#617290
Mendeliome v0.2544 PLPBP Zornitza Stark Publications for gene: PLPBP were set to 29689137; 27912044
Mendeliome v0.2543 PLPBP Zornitza Stark reviewed gene: PLPBP: Rating: GREEN; Mode of pathogenicity: None; Publications: 27912044, 31741821, 30668673; Phenotypes: Epilepsy, early-onset, vitamin B6-dependent, MIM# 617290; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2543 GRIN2A Zornitza Stark Gene: grin2a has been classified as Green List (High Evidence).
Mendeliome v0.2543 GRIN2A Zornitza Stark Phenotypes for gene: GRIN2A were changed from to Epilepsy, focal, with speech disorder and with or without mental retardation, MIM# 245570
Mendeliome v0.2542 GRIN2A Zornitza Stark Publications for gene: GRIN2A were set to
Mendeliome v0.2541 GRIN2A Zornitza Stark Mode of pathogenicity for gene: GRIN2A was changed from to Other
Mendeliome v0.2540 GRIN2A Zornitza Stark Mode of inheritance for gene: GRIN2A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2539 GRIN2A Zornitza Stark reviewed gene: GRIN2A: Rating: GREEN; Mode of pathogenicity: Other; Publications: 30544257; Phenotypes: Epilepsy, focal, with speech disorder and with or without mental retardation, MIM# 245570; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2539 TSEN34 Zornitza Stark Marked gene: TSEN34 as ready
Mendeliome v0.2539 TSEN34 Zornitza Stark Added comment: Comment when marking as ready: Reviewed ClinVar: all variants submitted are VOUS or LB, except for one LP, but no further details provided.
Mendeliome v0.2539 TSEN34 Zornitza Stark Gene: tsen34 has been classified as Red List (Low Evidence).
Mendeliome v0.2539 TSEN34 Zornitza Stark Phenotypes for gene: TSEN34 were changed from to Pontocerebellar hypoplasia type 2C, MIM# 612390
Mendeliome v0.2538 TSEN34 Zornitza Stark Mode of inheritance for gene: TSEN34 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2537 TSEN34 Zornitza Stark Publications for gene: TSEN34 were set to
Mendeliome v0.2536 TSEN34 Zornitza Stark Classified gene: TSEN34 as Red List (low evidence)
Mendeliome v0.2536 TSEN34 Zornitza Stark Gene: tsen34 has been classified as Red List (Low Evidence).
Mendeliome v0.2535 TSEN34 Zornitza Stark reviewed gene: TSEN34: Rating: RED; Mode of pathogenicity: None; Publications: 18711368; Phenotypes: Pontocerebellar hypoplasia type 2C, MIM# 612390; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2535 TSEN34 Zornitza Stark Deleted their review
Mendeliome v0.2535 TSEN54 Zornitza Stark Marked gene: TSEN54 as ready
Mendeliome v0.2535 TSEN54 Zornitza Stark Gene: tsen54 has been classified as Green List (High Evidence).
Mendeliome v0.2535 TSEN54 Zornitza Stark Phenotypes for gene: TSEN54 were changed from to Pontocerebellar hypoplasia type 2A 277470; Pontocerebellar hypoplasia type 4 225753; Ataxia
Mendeliome v0.2534 TSEN54 Zornitza Stark Publications for gene: TSEN54 were set to
Mendeliome v0.2533 TSEN54 Zornitza Stark Mode of inheritance for gene: TSEN54 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.2532 TSEN54 Zornitza Stark reviewed gene: TSEN54: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pontocerebellar hypoplasia type 2A 277470, Pontocerebellar hypoplasia type 4 225753, Ataxia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2532 TSEN54 Zornitza Stark Deleted their review
Mendeliome v0.2532 TSEN54 Zornitza Stark Deleted their comment
Mendeliome v0.2532 Zornitza Stark removed gene:FUS from the panel
Mendeliome v0.2531 Zornitza Stark removed gene:C9orf72 from the panel
Mendeliome v0.2530 TMPRSS9 Zornitza Stark Marked gene: TMPRSS9 as ready
Mendeliome v0.2530 TMPRSS9 Zornitza Stark Gene: tmprss9 has been classified as Red List (Low Evidence).
Mendeliome v0.2530 SLC6A6 Zornitza Stark Gene: slc6a6 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2530 GABRB2 Zornitza Stark Phenotypes for gene: GABRB2 were changed from Epileptic encephalopathy, infantile or early childhood, 2, MIM# 617829 to Epileptic encephalopathy, infantile or early childhood, 2, MIM# 617829
Mendeliome v0.2529 GABRB2 Zornitza Stark Phenotypes for gene: GABRB2 were changed from to Epileptic encephalopathy, infantile or early childhood, 2, MIM# 617829
Mendeliome v0.2528 GABRB2 Zornitza Stark Mode of pathogenicity for gene: GABRB2 was changed from to Other
Mendeliome v0.2527 GABRB2 Zornitza Stark Mode of inheritance for gene: GABRB2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2526 NDE1 Zornitza Stark Added comment: Comment when marking as ready: The two OMIM phenotypes likely represent a spectrum of brain abnormalities associated with this gene.
Mendeliome v0.2526 NDE1 Zornitza Stark Gene: nde1 has been classified as Green List (High Evidence).
Mendeliome v0.2526 NDE1 Zornitza Stark Phenotypes for gene: NDE1 were changed from to Microhydranencephaly 605013; Lissencephaly 4 (with microcephaly) 614019
Mendeliome v0.2525 NDE1 Zornitza Stark Publications for gene: NDE1 were set to
Mendeliome v0.2524 NDE1 Zornitza Stark Mode of inheritance for gene: NDE1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2523 CDC45 Zornitza Stark Gene: cdc45 has been classified as Green List (High Evidence).
Mendeliome v0.2523 CDC45 Zornitza Stark Phenotypes for gene: CDC45 were changed from to Meier-Gorlin syndrome 7, MIM 617063
Mendeliome v0.2522 CDC45 Zornitza Stark Publications for gene: CDC45 were set to
Mendeliome v0.2521 CDC45 Zornitza Stark Mode of inheritance for gene: CDC45 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2520 CPSF1 Zornitza Stark Phenotypes for gene: CPSF1 were changed from Myopia 27, 618827; high myopia; early-onset high myopiaHigh myopia to Myopia 27, 618827; high myopia; early-onset high myopia
Mendeliome v0.2519 CPSF1 Zornitza Stark Gene: cpsf1 has been classified as Green List (High Evidence).
Mendeliome v0.2519 CPSF1 Zornitza Stark Classified gene: CPSF1 as Green List (high evidence)
Mendeliome v0.2519 CPSF1 Zornitza Stark Gene: cpsf1 has been classified as Green List (High Evidence).
Mendeliome v0.2518 CHD4 Zornitza Stark Gene: chd4 has been classified as Green List (High Evidence).
Mendeliome v0.2518 CHD4 Zornitza Stark Phenotypes for gene: CHD4 were changed from to Sifrim-Hitz-Weiss syndrome, MIM 617159
Mendeliome v0.2517 CHD4 Zornitza Stark Publications for gene: CHD4 were set to
Mendeliome v0.2516 CHD4 Zornitza Stark Mode of inheritance for gene: CHD4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2515 RASA1 Zornitza Stark Phenotypes for gene: RASA1 were changed from to Capillary malformation-arteriovenous malformation 1, MIM#608354
Mendeliome v0.2514 RASA1 Zornitza Stark Publications for gene: RASA1 were set to
Mendeliome v0.2513 RASA1 Zornitza Stark Mode of inheritance for gene: RASA1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2512 CFAP69 Zornitza Stark Gene: cfap69 has been classified as Green List (High Evidence).
Mendeliome v0.2512 CFAP69 Zornitza Stark Phenotypes for gene: CFAP69 were changed from to Asthenoteratospermia (Impaired sperm motility; severe flagellar abnormalities (short, coiled, absent or irregular calibre))
Mendeliome v0.2511 CFAP69 Zornitza Stark Publications for gene: CFAP69 were set to
Mendeliome v0.2510 CFAP69 Zornitza Stark Mode of inheritance for gene: CFAP69 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2509 ABCA4 Zornitza Stark Gene: abca4 has been classified as Green List (High Evidence).
Mendeliome v0.2509 ABCA4 Zornitza Stark Phenotypes for gene: ABCA4 were changed from to Cone-rod dystrophy 3, 604116; Fundus flavimaculatus, 248200; Retinal dystrophy, early-onset severe, 248200; Retinitis pigmentosa 19, 601718; Stargardt disease 1, 248200
Mendeliome v0.2508 ABCA4 Zornitza Stark Publications for gene: ABCA4 were set to
Mendeliome v0.2507 ABCA4 Zornitza Stark Mode of inheritance for gene: ABCA4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2506 ABCA4 Zornitza Stark Tag deep intronic tag was added to gene: ABCA4.
Mendeliome v0.2506 TLK2 Zornitza Stark Marked gene: TLK2 as ready
Mendeliome v0.2506 TLK2 Zornitza Stark Gene: tlk2 has been classified as Green List (High Evidence).
Mendeliome v0.2506 TLK2 Zornitza Stark Phenotypes for gene: TLK2 were changed from to Intellectual disability, MIM 618050; Neurodevelopmental disease
Mendeliome v0.2505 TLK2 Zornitza Stark Publications for gene: TLK2 were set to
Mendeliome v0.2504 TLK2 Zornitza Stark Mode of inheritance for gene: TLK2 was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mendeliome v0.2503 DYRK1A Zornitza Stark Gene: dyrk1a has been classified as Green List (High Evidence).
Mendeliome v0.2503 DYRK1A Zornitza Stark Phenotypes for gene: DYRK1A were changed from to Mental retardation, autosomal dominant 7 (MIM#614104)
Mendeliome v0.2502 DYRK1A Zornitza Stark Publications for gene: DYRK1A were set to
Mendeliome v0.2501 DYRK1A Zornitza Stark Mode of inheritance for gene: DYRK1A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2500 WARS Zornitza Stark Gene: wars has been classified as Green List (High Evidence).
Mendeliome v0.2500 WARS Zornitza Stark Classified gene: WARS as Green List (high evidence)
Mendeliome v0.2500 WARS Zornitza Stark Gene: wars has been classified as Green List (High Evidence).
Mendeliome v0.2499 POLR1B Zornitza Stark Phenotypes for gene: POLR1B were changed from Treacher-Collins syndrome to Treacher-Collins syndrome type 4
Mendeliome v0.2498 POLR1B Zornitza Stark Gene: polr1b has been classified as Green List (High Evidence).
Mendeliome v0.2498 POLR1B Zornitza Stark Phenotypes for gene: POLR1B were changed from bilateral malar and mandibular hypoplasia; microtia; coloboma; downslanting palpebral fissures; conductive deafness; cleft palate; heart malformations to Treacher-Collins syndrome
Mendeliome v0.2497 POLR1B Zornitza Stark Classified gene: POLR1B as Green List (high evidence)
Mendeliome v0.2497 POLR1B Zornitza Stark Gene: polr1b has been classified as Green List (High Evidence).
Mendeliome v0.2496 POLR1B Zornitza Stark changed review comment from: Five unrelated families and a zebrafish model.; to: Five unrelated families and a zebrafish model. Note four of the families had missense variants affecting same residue, p.Arg1003
Mendeliome v0.2496 POLR1B Zornitza Stark changed review comment from: Six unrelated families and a zebrafish model.; to: Five unrelated families and a zebrafish model.
Mendeliome v0.2496 POLR1B Zornitza Stark reviewed gene: POLR1B: Rating: GREEN; Mode of pathogenicity: None; Publications: 31649276; Phenotypes: Treacher-Collins syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2496 SLC35D1 Zornitza Stark Gene: slc35d1 has been classified as Green List (High Evidence).
Mendeliome v0.2496 SLC35D1 Zornitza Stark Phenotypes for gene: SLC35D1 were changed from to Schneckenbecken dysplasia, MIM 269250
Mendeliome v0.2495 SLC35D1 Zornitza Stark Publications for gene: SLC35D1 were set to
Mendeliome v0.2494 SLC35D1 Zornitza Stark Mode of inheritance for gene: SLC35D1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2493 C1orf194 Zornitza Stark Added comment: Comment when marking as ready: Two unrelated families with missense variants, one with intermediate CMT, the other with demyelinating CMT. Different phenotypic manifestations may relate to different mechanism, but this remains to be fully elucidated. Supportive mouse model.
Mendeliome v0.2493 C1orf194 Zornitza Stark Gene: c1orf194 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2493 C1orf194 Zornitza Stark Mode of pathogenicity for gene: C1orf194 was changed from None to Other
Mendeliome v0.2492 C1orf194 Zornitza Stark Classified gene: C1orf194 as Amber List (moderate evidence)
Mendeliome v0.2492 C1orf194 Zornitza Stark Gene: c1orf194 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2491 REC114 Zornitza Stark Gene: rec114 has been classified as Green List (High Evidence).
Mendeliome v0.2491 REC114 Zornitza Stark Classified gene: REC114 as Green List (high evidence)
Mendeliome v0.2491 REC114 Zornitza Stark Gene: rec114 has been classified as Green List (High Evidence).
Mendeliome v0.2490 UBA2 Zornitza Stark Gene: uba2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2490 UBA2 Zornitza Stark Classified gene: UBA2 as Amber List (moderate evidence)
Mendeliome v0.2490 UBA2 Zornitza Stark Gene: uba2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2489 NDE1 Elena Savva reviewed gene: NDE1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30637988; Phenotypes: ?Microhydranencephaly 605013, Lissencephaly 4 (with microcephaly) 614019; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2489 GABRB2 Elena Savva reviewed gene: GABRB2: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 27789573, 29100083; Phenotypes: Epileptic encephalopathy, infantile or early childhood, 2 617829; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mendeliome v0.2489 STIM1 Zornitza Stark Marked gene: STIM1 as ready
Mendeliome v0.2489 STIM1 Zornitza Stark Gene: stim1 has been classified as Green List (High Evidence).
Mendeliome v0.2489 STIM1 Zornitza Stark Phenotypes for gene: STIM1 were changed from to Immunodeficiency 10 612783; Myopathy, tubular aggregate, 1 160565; Stormorken syndrome 185070
Mendeliome v0.2488 STIM1 Zornitza Stark Publications for gene: STIM1 were set to
Mendeliome v0.2487 STIM1 Zornitza Stark Mode of pathogenicity for gene: STIM1 was changed from to Other
Mendeliome v0.2486 STIM1 Zornitza Stark Mode of inheritance for gene: STIM1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.2485 MDM2 Belinda Chong reviewed gene: MDM2: Rating: RED; Mode of pathogenicity: None; Publications: 28846075; Phenotypes: ?Lessel-Kubisch syndrome 618681; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2485 ORAI1 Zornitza Stark Gene: orai1 has been classified as Green List (High Evidence).
Mendeliome v0.2485 ORAI1 Zornitza Stark Phenotypes for gene: ORAI1 were changed from to Immunodeficiency 9, MIM# 612782; Myopathy, tubular aggregate, 2, MIM# 615883
Mendeliome v0.2484 ORAI1 Zornitza Stark Publications for gene: ORAI1 were set to
Mendeliome v0.2483 ORAI1 Zornitza Stark Mode of pathogenicity for gene: ORAI1 was changed from to Other
Mendeliome v0.2482 ORAI1 Zornitza Stark Mode of inheritance for gene: ORAI1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.2481 RTTN Zornitza Stark Marked gene: RTTN as ready
Mendeliome v0.2481 RTTN Zornitza Stark Gene: rttn has been classified as Green List (High Evidence).
Mendeliome v0.2481 RTTN Zornitza Stark Phenotypes for gene: RTTN were changed from to Microcephaly, short stature, and polymicrogyria with seizures, MIM# 614833; Intellectual disability; cerebral polymicrogyria; primary microcephaly; growth defects; congenital anomalies
Mendeliome v0.2480 RTTN Zornitza Stark Publications for gene: RTTN were set to
Mendeliome v0.2479 RTTN Zornitza Stark Mode of inheritance for gene: RTTN was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2478 UBAP1 Zornitza Stark Gene: ubap1 has been classified as Green List (High Evidence).
Mendeliome v0.2478 UBAP1 Zornitza Stark Phenotypes for gene: UBAP1 were changed from to Spastic paraplegia 80, autosomal dominant 618418
Mendeliome v0.2477 UBAP1 Zornitza Stark Publications for gene: UBAP1 were set to
Mendeliome v0.2476 UBAP1 Zornitza Stark Mode of inheritance for gene: UBAP1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2475 SLC6A6 Zornitza Stark Classified gene: SLC6A6 as Amber List (moderate evidence)
Mendeliome v0.2475 SLC6A6 Zornitza Stark Gene: slc6a6 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2474 MRPS14 Zornitza Stark Phenotypes for gene: MRPS14 were changed from Combined oxidative phosphorylation deficiency 38, MIM# 618378 to Combined oxidative phosphorylation deficiency 38, MIM# 618378; perinatal hypertrophic cardiomyopathy, growth retardation, muscle hypotonia, elevated lactate, dysmorphy and intellectual disability
Mendeliome v0.2473 TMPRSS9 Zornitza Stark Classified gene: TMPRSS9 as Red List (low evidence)
Mendeliome v0.2473 TMPRSS9 Zornitza Stark Gene: tmprss9 has been classified as Red List (Low Evidence).
Mendeliome v0.2472 MCAT Zornitza Stark Marked gene: MCAT as ready
Mendeliome v0.2472 MCAT Zornitza Stark Gene: mcat has been classified as Red List (Low Evidence).
Mendeliome v0.2472 MCAT Zornitza Stark Classified gene: MCAT as Red List (low evidence)
Mendeliome v0.2472 MCAT Zornitza Stark Gene: mcat has been classified as Red List (Low Evidence).
Mendeliome v0.2471 ABCC1 Zornitza Stark Gene: abcc1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2471 ABCC1 Zornitza Stark Classified gene: ABCC1 as Amber List (moderate evidence)
Mendeliome v0.2471 ABCC1 Zornitza Stark Gene: abcc1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2470 ABCC1 Zornitza Stark gene: ABCC1 was added
gene: ABCC1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: ABCC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ABCC1 were set to 31273342
Phenotypes for gene: ABCC1 were set to Nonsyndromic hearing loss
Review for gene: ABCC1 was set to AMBER
Added comment: Total of 3 variants reported in 3 families, including 1 which segregates in a large family (10 affected) PMID: 31273342; Li 2019: Reported 3 different het missense in 3 families with postlingual ADNSHL. 1 missense segregated in a large Chinese family. This variant is present in gnomAD (10 hets), but onset noted to be in 2nd or 3rd decade of life. Functional studies performed. Other 2 variants reported absent in gnomAD. Amber rating in light of gnomad frequency of one of the reported variants.
Sources: Literature
Mendeliome v0.2469 GABRA1 Zornitza Stark Gene: gabra1 has been classified as Green List (High Evidence).
Mendeliome v0.2469 GABRA1 Zornitza Stark Publications for gene: GABRA1 were set to
Mendeliome v0.2468 GABRA1 Zornitza Stark Phenotypes for gene: GABRA1 were changed from to Epileptic encephalopathy, early infantile, 19 615744; Rett syndrome; Rett-like phenotypes; idiopathic generalized Epilepsy; Dravet syndrome
Mendeliome v0.2467 GABRA1 Zornitza Stark Mode of inheritance for gene: GABRA1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2466 SIGMAR1 Zornitza Stark Gene: sigmar1 has been classified as Green List (High Evidence).
Mendeliome v0.2466 SIGMAR1 Zornitza Stark Phenotypes for gene: SIGMAR1 were changed from to Amyotrophic lateral sclerosis 16, juvenile 614373; ?Spinal muscular atrophy, distal, autosomal recessive, 2 605726; distal hereditary motor neuropathy of Jerash type (HMNJ)
Mendeliome v0.2465 SIGMAR1 Zornitza Stark Publications for gene: SIGMAR1 were set to
Mendeliome v0.2464 SIGMAR1 Zornitza Stark Mode of inheritance for gene: SIGMAR1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2463 ATOH7 Zornitza Stark Marked gene: ATOH7 as ready
Mendeliome v0.2463 ATOH7 Zornitza Stark Gene: atoh7 has been classified as Green List (High Evidence).
Mendeliome v0.2463 ATOH7 Zornitza Stark Phenotypes for gene: ATOH7 were changed from to Persistent hyperplastic primary vitreous, autosomal recessive, MIM# 221900; microphthalmia; cataract; glaucoma; congenital retinal nonattachment
Mendeliome v0.2462 ATOH7 Zornitza Stark Publications for gene: ATOH7 were set to
Mendeliome v0.2461 ATOH7 Zornitza Stark Mode of inheritance for gene: ATOH7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2460 GNAI2 Zornitza Stark Classified gene: GNAI2 as Amber List (moderate evidence)
Mendeliome v0.2460 GNAI2 Zornitza Stark Gene: gnai2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2459 GNAI2 Zornitza Stark reviewed gene: GNAI2: Rating: AMBER; Mode of pathogenicity: None; Publications: 27787898; Phenotypes: Syndromic intellectual disability; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2459 GNAI2 Zornitza Stark Gene: gnai2 has been classified as Red List (Low Evidence).
Mendeliome v0.2459 GNAI2 Zornitza Stark Classified gene: GNAI2 as Red List (low evidence)
Mendeliome v0.2459 GNAI2 Zornitza Stark Gene: gnai2 has been classified as Red List (Low Evidence).
Mendeliome v0.2458 KLHL24 Zornitza Stark Phenotypes for gene: KLHL24 were changed from Epidermolysis bullosa simplex, generalized, with scarring and hair loss OMIM#617294; dilated cardiomyopathy to Epidermolysis bullosa simplex, generalized, with scarring and hair loss OMIM#617294; dilated cardiomyopathy; Hypertrophic cardiomyopathy
Mendeliome v0.2457 KLHL24 Zornitza Stark Publications for gene: KLHL24 were set to 29779254; 30120936
Mendeliome v0.2456 KLHL24 Zornitza Stark Mode of inheritance for gene: KLHL24 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.2455 KLHL24 Zornitza Stark reviewed gene: KLHL24: Rating: GREEN; Mode of pathogenicity: None; Publications: 30715372; Phenotypes: Hypertrophic cardiomyopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2455 FEM1B Zornitza Stark Added comment: Comment when marking as ready: Agree cannot be confident these represent three unrelated families.
Mendeliome v0.2455 FEM1B Zornitza Stark Gene: fem1b has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2455 FEM1B Zornitza Stark Phenotypes for gene: FEM1B were changed from Syndromic global developmental delay to Syndromic intellectual disability
Mendeliome v0.2454 FEM1B Zornitza Stark Classified gene: FEM1B as Amber List (moderate evidence)
Mendeliome v0.2454 FEM1B Zornitza Stark Gene: fem1b has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2453 WIPI2 Zornitza Stark Classified gene: WIPI2 as Red List (low evidence)
Mendeliome v0.2453 WIPI2 Zornitza Stark Gene: wipi2 has been classified as Red List (Low Evidence).
Mendeliome v0.2452 SEC31A Zornitza Stark Gene: sec31a has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2452 SEC31A Zornitza Stark Phenotypes for gene: SEC31A were changed from congenital neurodevelopmental syndrome; spastic paraplegia; multiple contractures; profound developmental delay; epilepsy; failure to thrive to Neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies, MIM# 618651; congenital neurodevelopmental syndrome; spastic paraplegia; multiple contractures; profound developmental delay; epilepsy; failure to thrive
Mendeliome v0.2451 SEC31A Zornitza Stark Classified gene: SEC31A as Amber List (moderate evidence)
Mendeliome v0.2451 SEC31A Zornitza Stark Gene: sec31a has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2450 SLC44A1 Zornitza Stark Added comment: Comment when marking as ready: Childhood onset neurodegeneration
Mendeliome v0.2450 SLC44A1 Zornitza Stark Gene: slc44a1 has been classified as Green List (High Evidence).
Mendeliome v0.2450 SLC44A1 Zornitza Stark Classified gene: SLC44A1 as Green List (high evidence)
Mendeliome v0.2450 SLC44A1 Zornitza Stark Gene: slc44a1 has been classified as Green List (High Evidence).
Mendeliome v0.2449 SMCHD1 Zornitza Stark Added comment: Comment when marking as ready: Note association with FSHD2 is postulated to have digenic inheritance, caused by the combination of a heterozygous mutation in the SMCHD1 gene (614982) on chromosome 18p and presence of a haplotype on chromosome 4 that is permissive for DUX4 (606009) expression.
Mendeliome v0.2449 SMCHD1 Zornitza Stark Gene: smchd1 has been classified as Green List (High Evidence).
Mendeliome v0.2449 SMCHD1 Zornitza Stark Phenotypes for gene: SMCHD1 were changed from to Bosma arhinia microphthalmia syndrome, MIM 603457; Fascioscapulohumeral muscular dystrophy 2, digenic
Mendeliome v0.2448 SMCHD1 Zornitza Stark Publications for gene: SMCHD1 were set to
Mendeliome v0.2447 SMCHD1 Zornitza Stark Mode of inheritance for gene: SMCHD1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2446 CDKL5 Zornitza Stark Gene: cdkl5 has been classified as Green List (High Evidence).
Mendeliome v0.2446 CDKL5 Zornitza Stark Phenotypes for gene: CDKL5 were changed from to Epileptic encephalopathy, early infantile, 2, MIM 300672
Mendeliome v0.2445 CDKL5 Zornitza Stark Publications for gene: CDKL5 were set to
Mendeliome v0.2444 CDKL5 Zornitza Stark Mode of inheritance for gene: CDKL5 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.2443 AEBP1 Zornitza Stark Gene: aebp1 has been classified as Green List (High Evidence).
Mendeliome v0.2443 AEBP1 Zornitza Stark Phenotypes for gene: AEBP1 were changed from to Ehlers-Danlos syndrome, classic-like, 2, MIM# 618000
Mendeliome v0.2442 AEBP1 Zornitza Stark Publications for gene: AEBP1 were set to
Mendeliome v0.2441 AEBP1 Zornitza Stark Mode of inheritance for gene: AEBP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2440 AEBP1 Zornitza Stark reviewed gene: AEBP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 29606302, 30668708, 30548383, 30759870; Phenotypes: Ehlers-Danlos syndrome, classic-like, 2, MIM# 618000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2440 SLC6A6 Chern Lim gene: SLC6A6 was added
gene: SLC6A6 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: SLC6A6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC6A6 were set to 31345061; 31903486; 29886034
Phenotypes for gene: SLC6A6 were set to Early retinal degeneration; cardiomyopathy
Review for gene: SLC6A6 was set to AMBER
Added comment: Different homozygous missense variants in 2 unrelated consanguineous families with early retinal degeneration, some functional studies. Patients in one of the families also had cardiomyopathy. (PMIDs: 31345061, 31903486)

One dilated cardiomyopathy patient with a homozygous deletion at a splice site (PMID: 29886034).
Sources: Literature
Mendeliome v0.2440 MRPS14 Dean Phelan reviewed gene: MRPS14: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 30358850; Phenotypes: perinatal hypertrophic cardiomyopathy, growth retardation, muscle hypotonia, elevated lactate, dysmorphy and intellectual disability; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2440 TMPRSS9 Chern Lim gene: TMPRSS9 was added
gene: TMPRSS9 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: TMPRSS9 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TMPRSS9 were set to 31943016
Phenotypes for gene: TMPRSS9 were set to autism spectrum disorder
Review for gene: TMPRSS9 was set to RED
Added comment: Association with Mendelian disease not established.

Is a candidate gene for autism spectrum disorder: single patient, compound heterozygous nonsense variants. Functional studies showed Tmprss9 gene is expressed in mouse brain, knockout mice had decreased social interest and social recognition. (PMID: 31943016)
Sources: Literature
Mendeliome v0.2440 MCAT Chern Lim gene: MCAT was added
gene: MCAT was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: MCAT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MCAT were set to 31915829
Phenotypes for gene: MCAT were set to progressive autosomal recessive optic neuropathy
Review for gene: MCAT was set to RED
Added comment: One family reported - a consanguineous family, two homozygous missense variants in both affected siblings. Functional studies showed both missense together have synergic impact on MCAT protein misfolding; p.(L81R) had more impact on MCAT protein expression reduction than did the p.(R212W); some study in conditional knockout mice. (PMID:31915829)
Sources: Literature
Mendeliome v0.2440 CAP2 Melanie Marty Deleted their comment
Mendeliome v0.2440 CAP2 Melanie Marty edited their review of gene: CAP2: Added comment: 2 patients with dilated cardiomyopathy from 1 consanguineous family. The splice variant identified in this family was proven to cause exon skipping and functional studies showed protein level was reduced. A Cap2 knockout mouse model correlated with the clinical phenotype of DCM and cardiac conduction disease, but not the other effects on growth, viability, wound healing and eye development.; Changed rating: RED
Mendeliome v0.2440 WIPI2 Melanie Marty Deleted their comment
Mendeliome v0.2440 WIPI2 Melanie Marty edited their review of gene: WIPI2: Added comment: Four homozygous patients from one consanguineous family with intellectual developmental, short stature and variable skeletal anomalies. Functional studies in patient cells showed impaired protein function.; Changed rating: RED; Changed phenotypes: Intellectual developmental disorder with short stature and variable skeletal anomalies 618453
Mendeliome v0.2440 ATOH7 Paul De Fazio changed review comment from: Segregates with disease in 3 consanguineous families from Pakistan/Turkey and one non-consanguineous family of Swiss origin. Functional effect was demonstrated in the latter family. The mouse homolog is required for retinal ganglion cell and optic nerve formation.; to: Segregates with disease in 3 consanguineous families from Pakistan/Turkey with global eye abnormalities, and one non-consanguineous family of Swiss origin with optic nerve hypoplasia. Functional effect was demonstrated in the latter family. The mouse homolog is required for retinal ganglion cell and optic nerve formation (in mice).
Mendeliome v0.2440 GFAP Paul De Fazio changed review comment from: Many (>20) de novo individuals described with Alexander disease. Three forms of disease are described with decreasing severity: infant-onset, juveline-onset, and adult-onset. Later-onset cases are more phenotypically heterogeneous.; to: Many (>10) de novo individuals described with Alexander disease. Three forms of disease are described with decreasing severity: infant-onset, juveline-onset, and adult-onset. Later-onset cases are more phenotypically heterogeneous.
Mendeliome v0.2440 GFAP Paul De Fazio changed review comment from: Many (>10) de novo individuals described with Alexander disease. Three forms of disease are described with decreasing severity: infant-onset, juveline-onset, and adult-onset. Later-onset cases are more phenotypically heterogeneous.; to: Many (>20) de novo individuals described with Alexander disease. Three forms of disease are described with decreasing severity: infant-onset, juveline-onset, and adult-onset. Later-onset cases are more phenotypically heterogeneous.
Mendeliome v0.2440 UBAP1 Ain Roesley reviewed gene: UBAP1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31203368; Phenotypes: hereditary spastic paraplegia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2440 RTTN Ee Ming Wong reviewed gene: RTTN: Rating: GREEN; Mode of pathogenicity: None; Publications: 30879067; Phenotypes: Intellectual disability, cerebral polymicrogyria, primary microcephaly, growth defects, congenital anomalies; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2440 PKDCC Paul De Fazio changed review comment from: 2 ("apparently") unrelated individuals with homozygous LoF (1x nonsense, 1x canonical splice) variants reported. Their phenotype is similar to knockout mice.
Sources: Literature; to: 2 apparently unrelated individuals with homozygous LoF (1x nonsense, 1x canonical splice) variants reported. Their phenotype is similar to knockout mice.
Sources: Literature
Mendeliome v0.2440 ORAI1 Natalie Tan changed review comment from: PMID 31448844 (comprehensive review, summarises all published cases, references functional evidence):
- Dominant ORAI1 missense variants via a GOF mechanism cause a spectrum of myopathy covering tubular aggregate myopathy/TAM and Stormorken syndrome/STRMK (slowly progressive muscle weakness with variable multisystemic disease including non-specific dysmorphism, a/hyposplenia, ichthyosis, cytopenias)
- Recessive ORAI1 variants via a LOF mechanism cause a combined immunodeficiency (recurrent and chronic infections, autoimmunity, ectodermal dysplasia, non-progressive myopathy); to: PMID 31448844 (comprehensive review, summarises all published cases, references functional evidence):
- Dominant ORAI1 missense variants via a GOF mechanism cause a slowly progressive myopathy (tubular aggregate myopathy/TAM)
- Recessive ORAI1 variants via a LOF mechanism cause a combined immunodeficiency (recurrent and chronic infections, autoimmunity, ectodermal dysplasia, non-progressive myopathy)
Mendeliome v0.2440 CDKL5 Teresa Zhao reviewed gene: CDKL5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Epileptic encephalopathy, early infantile, 2, MIM 300672; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males); Current diagnostic: yes
Mendeliome v0.2440 STIM1 Natalie Tan reviewed gene: STIM1: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 31448844; Phenotypes: Myopathy, immunodeficiency; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.2440 UBA2 Elena Savva gene: UBA2 was added
gene: UBA2 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: UBA2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: UBA2 were set to PMID: 31332306; 31587267
Phenotypes for gene: UBA2 were set to Split-Hand/Foot Malformation; Aplasia Cutis Congenita; Ectrodactyly
Penetrance for gene: UBA2 were set to unknown
Review for gene: UBA2 was set to AMBER
Added comment: No OMIM phenotype

PMID: 31332306 - a single patient with a de novo PTC and split hand/foot malformation (SHFM). Additional two multigenic CNVs including this gene in patients with SHFM and ectrodactyly. Authors mention an additional de novo missense but the patient didnt have SHFM, argue low penetrance

PMID: 31587267 - a mother and son with aplasia cutis congenita (ACC), with a heterozygous PTC. Son also has ectrodactyly. Authors note an additional de novo missense in a patient with ACC.
Sources: Literature
Mendeliome v0.2440 ORAI1 Natalie Tan changed review comment from: PMID 31448844 (comprehensive review, summarises all published cases, references functional evidence):
- Dominant ORAI1 missense variants via a GOF mechanism cause a spectrum of myopathy covering tubular aggregate myopathy/TAM and Stormorken syndrome/STRMK (slowly progressive muscle weakness with variable multisystemic disease including non-specific dysmorphism, a/hyposplenia, ichthyosis, cytopenias)
- Recessive ORAI1 variants via a LOF mechanism cause a combined immunodeficiency (recurrent and chronic infections, autoimmunity, ectodermal dysplasia, non-progressive myopathy); to: PMID 31448844 (comprehensive review, summarises all published cases, references functional evidence):
- Dominant ORAI1 missense variants via a GOF mechanism cause a spectrum of myopathy covering tubular aggregate myopathy/TAM and Stormorken syndrome/STRMK (slowly progressive muscle weakness with variable multisystemic disease including non-specific dysmorphism, a/hyposplenia, ichthyosis, cytopenias)
- Recessive ORAI1 variants via a LOF mechanism cause a combined immunodeficiency (recurrent and chronic infections, autoimmunity, ectodermal dysplasia, non-progressive myopathy)
Mendeliome v0.2440 ORAI1 Natalie Tan reviewed gene: ORAI1: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 31448844; Phenotypes: Progressive myopathy, contractures; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.2440 GSX2 Zornitza Stark Added comment: Comment when marking as ready: Intellectual disability, spastic tetraparesis, dystonia
Mendeliome v0.2440 GSX2 Zornitza Stark Gene: gsx2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2440 REC114 Michelle Torres gene: REC114 was added
gene: REC114 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: REC114 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: REC114 were set to 30388401; 31704776
Phenotypes for gene: REC114 were set to Female infertility
Review for gene: REC114 was set to GREEN
Added comment: Three variants reported are either within or flanking exon 4.
- One hom patient (splice) had a miscarriage, 2 spontaneous complete hydatidiform moles, and 1 complete hydatidiform mole following intrauterine sperm injection (PMID: 30388401)
- Two hom unrelated patients from consanguineous families with abnormal pronuclear formation during fertilisation and subsequent early embrionic arrest resulting in female infertility. Both variants (1 missense and 1 splice) were shown to result in LoF (PMID: 31704776)
Sources: Literature
Mendeliome v0.2440 AGTPBP1 Kristin Rigbye reviewed gene: AGTPBP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 30420557; Phenotypes: Early onset cerebellar atrophy, developmental delay, and feeding and respiratory difficulties, severe motor neuronopathy, Neurodegeneration, childhood-onset, with cerebellar atrophy, 618276; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2440 GSX2 Zornitza Stark Gene: gsx2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2440 GSX2 Zornitza Stark Classified gene: GSX2 as Amber List (moderate evidence)
Mendeliome v0.2440 GSX2 Zornitza Stark Gene: gsx2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2439 C1orf194 Ain Roesley gene: C1orf194 was added
gene: C1orf194 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: C1orf194 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: C1orf194 were set to PMID: 31199454
Phenotypes for gene: C1orf194 were set to Charcot-Marie-Tooth
Review for gene: C1orf194 was set to AMBER
Added comment: PMID: 31199454; 2 missense variants in 2 large families segregating in an AD pattern. Mouse models for one of the variants (p.(Ile121Asn) led to impairments in moto and neuromuscular functions
Sources: Literature
Mendeliome v0.2439 SLC35D1 Teresa Zhao reviewed gene: SLC35D1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31423530, 19508970; Phenotypes: Schneckenbecken dysplasia, MIM 269250; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.2439 POLR1B Paul De Fazio changed review comment from: 6 individuals with Treacher-Collins syndrome described: 3 with de novo variants, one inherited from a mosaic father, and two inherited from affected mothers. Knockdown in zebrafish mimics the phenotype.
Sources: Literature; to: 6 individuals with Treacher-Collins syndrome described: 3 with de novo variants, one inherited from a mosaic father, and two inherited from affected mothers. Knockdown in zebrafish mimics the phenotype.
Sources: Literature
Mendeliome v0.2439 POLR1B Paul De Fazio gene: POLR1B was added
gene: POLR1B was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: POLR1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: POLR1B were set to 31649276
Phenotypes for gene: POLR1B were set to bilateral malar and mandibular hypoplasia; microtia; coloboma; downslanting palpebral fissures; conductive deafness; cleft palate; heart malformations
Review for gene: POLR1B was set to AMBER
gene: POLR1B was marked as current diagnostic
Added comment: 6 individuals with Treacher-Collins syndrome described: 3 with de novo variants, one inherited from a mosaic father, and two inherited from affected mothers. Knockdown in zebrafish mimics the phenotype.
Sources: Literature
Mendeliome v0.2439 CREB3L1 Zornitza Stark Gene: creb3l1 has been classified as Green List (High Evidence).
Mendeliome v0.2439 CREB3L1 Zornitza Stark Phenotypes for gene: CREB3L1 were changed from to Osteogenesis imperfecta, type XVI, MIM#616229
Mendeliome v0.2438 CREB3L1 Zornitza Stark Publications for gene: CREB3L1 were set to
Mendeliome v0.2437 CREB3L1 Zornitza Stark Mode of inheritance for gene: CREB3L1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2436 WARS Naomi Baker gene: WARS was added
gene: WARS was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: WARS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: WARS were set to PMID: 28369220; 31321409; 31069783.
Phenotypes for gene: WARS were set to Neuronopathy, distal hereditary motor, type IX (OMIM:617721); juvenile to adult onset (15-23 years); distal wasting; distal weakness; length-dependent motor axonal degeneration
Review for gene: WARS was set to GREEN
Added comment: 14 patients from five families were reported to have WARS-related neuropathy across three publications. Expression studies of mutant demonstrated decreased protein when compared to wild-type.
Sources: Literature
Mendeliome v0.2436 ACKR3 Zornitza Stark Gene: ackr3 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2436 ACKR3 Zornitza Stark Phenotypes for gene: ACKR3 were changed from Oculomotor synkinesis to Oculomotor synkinesis; Ptosis
Mendeliome v0.2435 ACKR3 Zornitza Stark Classified gene: ACKR3 as Amber List (moderate evidence)
Mendeliome v0.2435 ACKR3 Zornitza Stark Gene: ackr3 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2434 CYLD Zornitza Stark Gene: cyld has been classified as Green List (High Evidence).
Mendeliome v0.2434 CYLD Zornitza Stark Phenotypes for gene: CYLD were changed from to Brooke-Spiegler syndrome, 605041; Cylindromatosis, familial, 132700; Trichoepithelioma, multiple familial, 1, 601606; Frontotemporal dementia and amyotrophic lateral sclerosis
Mendeliome v0.2433 CYLD Zornitza Stark Publications for gene: CYLD were set to
Mendeliome v0.2432 CYLD Zornitza Stark Mode of inheritance for gene: CYLD was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2431 PCDH19 Zornitza Stark Gene: pcdh19 has been classified as Green List (High Evidence).
Mendeliome v0.2431 PCDH19 Zornitza Stark Phenotypes for gene: PCDH19 were changed from to Epileptic encephalopathy, early infantile, 9 300088; PCDH19-related epilepsy (early seizure onset, generalised or focused seizures); cognitive impairment
Mendeliome v0.2430 PCDH19 Zornitza Stark Publications for gene: PCDH19 were set to
Mendeliome v0.2429 PCDH19 Zornitza Stark Mode of inheritance for gene: PCDH19 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.2428 GFAP Zornitza Stark Gene: gfap has been classified as Green List (High Evidence).
Mendeliome v0.2428 GFAP Zornitza Stark Phenotypes for gene: GFAP were changed from to Alexander disease, MIM# 203450
Mendeliome v0.2427 SLC9A7 Dean Phelan reviewed gene: SLC9A7: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 30335141; Phenotypes: Intellectual disability; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes
Mendeliome v0.2427 GFAP Zornitza Stark Publications for gene: GFAP were set to
Mendeliome v0.2426 GFAP Zornitza Stark Mode of inheritance for gene: GFAP was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2425 COPA Zornitza Stark Gene: copa has been classified as Green List (High Evidence).
Mendeliome v0.2425 COPA Zornitza Stark Phenotypes for gene: COPA were changed from to Autoimmune interstitial lung, joint, and kidney disease, MIM 616414
Mendeliome v0.2424 COPA Zornitza Stark Publications for gene: COPA were set to
Mendeliome v0.2423 COPA Zornitza Stark Mode of inheritance for gene: COPA was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2422 DYRK1A Crystle Lee reviewed gene: DYRK1A: Rating: GREEN; Mode of pathogenicity: None; Publications: 25707398, 31263215; Phenotypes: Mental retardation, autosomal dominant 7 (MIM#614104); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mendeliome v0.2422 COPA Zornitza Stark Mode of inheritance for gene: COPA was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2421 PLOD3 Alison Yeung Added comment: Comment when marking as ready: >3 unrelated families reported
Mendeliome v0.2421 PLOD3 Alison Yeung Gene: plod3 has been classified as Green List (High Evidence).
Mendeliome v0.2421 TLK2 Teresa Zhao reviewed gene: TLK2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID:29861108, 29942082, 27479843, 23911319, 30559488, 29942082, 31558842; Phenotypes: Intellectual disability, MIM 618050, Neurodevelopmental disease; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.2421 FOXG1 Zornitza Stark Gene: foxg1 has been classified as Green List (High Evidence).
Mendeliome v0.2421 PLOD3 Alison Yeung Mode of inheritance for gene: PLOD3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2421 FOXG1 Zornitza Stark Phenotypes for gene: FOXG1 were changed from to Rett syndrome, congenital variant, MIM# 613454
Mendeliome v0.2420 FOXG1 Zornitza Stark Publications for gene: FOXG1 were set to
Mendeliome v0.2419 FOXG1 Zornitza Stark Mode of inheritance for gene: FOXG1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2418 TBX6 Alison Yeung Marked gene: TBX6 as ready
Mendeliome v0.2418 TBX6 Alison Yeung Added comment: Comment when marking as ready: Biallelic variants associated with spondylocostal dysostosis in >3 unrelated individuals
Mouse model recapitulates phenotype
Mendeliome v0.2418 TBX6 Alison Yeung Gene: tbx6 has been classified as Green List (High Evidence).
Mendeliome v0.2418 SAMD12 Zornitza Stark Gene: samd12 has been classified as Green List (High Evidence).
Mendeliome v0.2418 SAMD12 Zornitza Stark Tag deep intronic tag was added to gene: SAMD12.
Mendeliome v0.2418 TBX6 Alison Yeung Mode of inheritance for gene: TBX6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2418 SAMD12 Zornitza Stark Mode of inheritance for gene: SAMD12 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mendeliome v0.2417 SAMD12 Zornitza Stark Classified gene: SAMD12 as Green List (high evidence)
Mendeliome v0.2417 SAMD12 Zornitza Stark Gene: samd12 has been classified as Green List (High Evidence).
Mendeliome v0.2416 FUS Zornitza Stark commented on gene: FUS
Mendeliome v0.2416 ABCA4 Kristin Rigbye reviewed gene: ABCA4: Rating: GREEN; Mode of pathogenicity: None; Publications: 9054934, 30480703, 29847635, 29971439, 16103129, 30643219; Phenotypes: Cone-rod dystrophy 3, 604116, Fundus flavimaculatus, 248200, Retinal dystrophy, early-onset severe, 248200, Retinitis pigmentosa 19, 601718, Stargardt disease 1, 248200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2416 CFAP69 Ee Ming Wong reviewed gene: CFAP69: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 29606301, 30415212; Phenotypes: Asthenoteratospermia (Impaired sperm motility, severe flagellar abnormalities (short, coiled, absent or irregular calibre)); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.2416 UBE3A Alison Yeung Gene: ube3a has been classified as Green List (High Evidence).
Mendeliome v0.2416 C9orf72 Zornitza Stark commented on gene: C9orf72
Mendeliome v0.2416 RASA1 Chern Lim reviewed gene: RASA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 14639529, 29891884, 24038909, 31300548; Phenotypes: Capillary malformation-arteriovenous malformation 1, MIM#608354; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Mendeliome v0.2416 ADAMTS19 Alison Yeung Marked gene: ADAMTS19 as ready
Mendeliome v0.2416 ADAMTS19 Alison Yeung Gene: adamts19 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2416 ADAMTS19 Alison Yeung Classified gene: ADAMTS19 as Amber List (moderate evidence)
Mendeliome v0.2416 ADAMTS19 Alison Yeung Added comment: Comment on list classification: Two different homozygous variants in two consanguineous families. Animal model demonstrates cardiac phenotype
Await further reported families
Mendeliome v0.2416 ADAMTS19 Alison Yeung Gene: adamts19 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2415 YARS Zornitza Stark Gene: yars has been classified as Green List (High Evidence).
Mendeliome v0.2415 YARS Zornitza Stark Phenotypes for gene: YARS were changed from to Charcot-Marie-Tooth disease, dominant intermediate C 608323; Bi-allelic variants: ID, deafness, nystagmus
Mendeliome v0.2414 YARS Zornitza Stark Publications for gene: YARS were set to
Mendeliome v0.2413 YARS Zornitza Stark Mode of inheritance for gene: YARS was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.2412 CFAP65 Zornitza Stark Gene: cfap65 has been classified as Green List (High Evidence).
Mendeliome v0.2412 CFAP65 Zornitza Stark Classified gene: CFAP65 as Green List (high evidence)
Mendeliome v0.2412 CFAP65 Zornitza Stark Gene: cfap65 has been classified as Green List (High Evidence).
Mendeliome v0.2411 CAP2 Alison Yeung Gene: cap2 has been classified as Red List (Low Evidence).
Mendeliome v0.2411 CAP2 Alison Yeung Classified gene: CAP2 as Red List (low evidence)
Mendeliome v0.2411 CAP2 Alison Yeung Added comment: Comment on list classification: Currently only one consanguineous family reported.
Knockout mouse model shows cardiomyopathy but not other clinical features reported in this family
Mendeliome v0.2411 CAP2 Alison Yeung Gene: cap2 has been classified as Red List (Low Evidence).
Mendeliome v0.2410 IGF1R Zornitza Stark Gene: igf1r has been classified as Green List (High Evidence).
Mendeliome v0.2410 IGF1R Zornitza Stark Phenotypes for gene: IGF1R were changed from to Insulin-like growth factor I, resistance to, MIM# 270450
Mendeliome v0.2409 IGF1R Zornitza Stark Publications for gene: IGF1R were set to
Mendeliome v0.2408 IGF1R Zornitza Stark Mode of inheritance for gene: IGF1R was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.2407 SHANK3 Zornitza Stark Gene: shank3 has been classified as Green List (High Evidence).
Mendeliome v0.2407 SHANK3 Zornitza Stark Phenotypes for gene: SHANK3 were changed from to Phelan-McDermid syndrome 606232; Rett syndrome; Rett-like phenotypes
Mendeliome v0.2406 CHD4 Teresa Zhao reviewed gene: CHD4: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID:31388190; Phenotypes: Sifrim-Hitz-Weiss syndrome, MIM 617159; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Mendeliome v0.2406 SHANK3 Zornitza Stark Publications for gene: SHANK3 were set to
Mendeliome v0.2405 SHANK3 Zornitza Stark Mode of inheritance for gene: SHANK3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2404 SCN1A Zornitza Stark Gene: scn1a has been classified as Green List (High Evidence).
Mendeliome v0.2404 SCN1A Zornitza Stark Phenotypes for gene: SCN1A were changed from to Epileptic encephalopathy, early infantile, 6 (Dravet syndrome), MIM# 607208
Mendeliome v0.2403 SCN1A Zornitza Stark Publications for gene: SCN1A were set to
Mendeliome v0.2402 SCN1A Zornitza Stark Mode of inheritance for gene: SCN1A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2401 ADAMTS19 Crystle Lee edited their review of gene: ADAMTS19: Changed rating: AMBER
Mendeliome v0.2401 CPSF1 Kristin Rigbye changed review comment from: 6 unrelated probands reported (3 nonsense, 1 frameshift, 1 splice, 1 missense) with variants all assumed to result in a loss of function. Variants were shown to be inherited from affected parents in 2 families. Gene-disease association was supported by knockdown of cpsf1 in zebrafish which caused abnormal ocular morphogenesis (30689892).
Sources: Literature; to: 6 unrelated probands reported (3 nonsense, 1 frameshift, 1 splice, 1 missense) with variants all assumed to result in a loss of function. Variants were shown to be inherited from affected parents in 2 families. Gene-disease association was supported by knockdown of cpsf1 in zebrafish which caused abnormal ocular morphogenesis (PMID: 30689892).
Sources: Literature
Mendeliome v0.2401 CPSF1 Kristin Rigbye edited their review of gene: CPSF1: Changed phenotypes: Myopia 27, 618827, high myopia, early-onset high myopia, high myopia
Mendeliome v0.2401 CPSF1 Kristin Rigbye gene: CPSF1 was added
gene: CPSF1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: CPSF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CPSF1 were set to 30689892
Phenotypes for gene: CPSF1 were set to Myopia 27, 618827; high myopia; early-onset high myopiaHigh myopia
Review for gene: CPSF1 was set to GREEN
Added comment: 6 unrelated probands reported (3 nonsense, 1 frameshift, 1 splice, 1 missense) with variants all assumed to result in a loss of function. Variants were shown to be inherited from affected parents in 2 families. Gene-disease association was supported by knockdown of cpsf1 in zebrafish which caused abnormal ocular morphogenesis (30689892).
Sources: Literature
Mendeliome v0.2401 STXBP1 Zornitza Stark Marked gene: STXBP1 as ready
Mendeliome v0.2401 STXBP1 Zornitza Stark Gene: stxbp1 has been classified as Green List (High Evidence).
Mendeliome v0.2401 STXBP1 Zornitza Stark Phenotypes for gene: STXBP1 were changed from to Epileptic encephalopathy, early infantile, 4 612164; Rett syndrome; Rett-like phenotypes
Mendeliome v0.2400 STXBP1 Zornitza Stark Publications for gene: STXBP1 were set to
Mendeliome v0.2399 STXBP1 Zornitza Stark Mode of inheritance for gene: STXBP1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2398 NAA10 Zornitza Stark Gene: naa10 has been classified as Green List (High Evidence).
Mendeliome v0.2398 NAA10 Zornitza Stark Phenotypes for gene: NAA10 were changed from to Microphthalmia, syndromic 1 309800
Mendeliome v0.2397 NAA10 Zornitza Stark Publications for gene: NAA10 were set to
Mendeliome v0.2396 NAA10 Zornitza Stark Mode of inheritance for gene: NAA10 was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Mendeliome v0.2395 CDC45 Teresa Zhao reviewed gene: CDC45: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31474763; Phenotypes: Meier-Gorlin syndrome 7, MIM 617063; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.2395 WDR45 Zornitza Stark Gene: wdr45 has been classified as Green List (High Evidence).
Mendeliome v0.2395 SIGMAR1 Michelle Torres changed review comment from: PMID: 31511340:
- N167I (1 het in gnomAD): in 7 consanguinous families from region of Jordan with a specific type of distal hereditary motor neuropathy of Jerash type (HMNJ). Experiments show loss of function effect.
- Lists recent publications with other variants (missense and truncating) in patients with distal hereditary motor neuropathy (dHMN) with mild pyramidal signs and jALS (juvenile ALS); to: PMID: 31511340:
- N167I (1 het in gnomAD): in 7 consanguinous families from region of Jordan with a specific type of distal hereditary motor neuropathy of Jerash type (HMNJ). Experiments show loss of function effect.
- Lists recent publications with other variants (missense and truncating) in patients with distal hereditary motor neuropathy (dHMN) with mild pyramidal signs and jALS (juvenile ALS)
Mendeliome v0.2395 WDR45 Zornitza Stark Phenotypes for gene: WDR45 were changed from to Neurodegeneration with brain iron accumulation 5 300894; Rett syndrome; Rett-like phenotypes
Mendeliome v0.2394 WDR45 Zornitza Stark Publications for gene: WDR45 were set to
Mendeliome v0.2393 WDR45 Zornitza Stark Mode of inheritance for gene: WDR45 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2392 GABRA1 Ain Roesley reviewed gene: GABRA1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 11992121, 21714819, 24623842, 30842224; Phenotypes: Rett syndrome, Rett-like phenotypes, idiopathic generalized Epilepsy, dravet syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2392 SIGMAR1 Michelle Torres reviewed gene: SIGMAR1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31511340; Phenotypes: ?Amyotrophic lateral sclerosis 16, juvenile 614373, ?Spinal muscular atrophy, distal, autosomal recessive, 2 605726, distal hereditary motor neuropathy of Jerash type (HMNJ); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2392 ATOH7 Paul De Fazio reviewed gene: ATOH7: Rating: GREEN; Mode of pathogenicity: None; Publications: 22068589, 22645276, 31696227, 11493566, 11493566; Phenotypes: microphthalmia, cataract, glaucoma, congenital retinal nonattachment; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.2392 GNAI2 Elena Savva gene: GNAI2 was added
gene: GNAI2 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: GNAI2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: GNAI2 were set to PMID: 31036916
Phenotypes for gene: GNAI2 were set to Pituitary adenoma, ACTH-secreting, somatic; Ventricular tachycardia, idiopathic 192605; Syndromic developmental disorder
Review for gene: GNAI2 was set to AMBER
Added comment: Papers associating this gene to tachycardia are very old (pre 2000, OMIM).

PMID: 31036916 - a single de novo patient with syndromic developmental disorder

Summary: AMBER - one report, may be a coincidental de novo finding
Sources: Literature
Mendeliome v0.2392 SOD2 Zornitza Stark Phenotypes for gene: SOD2 were changed from {Microvascular complications of diabetes 6} 612634 to {Microvascular complications of diabetes 6} 612634; Lethal neonatal dilated cardiomyopathy
Mendeliome v0.2391 SOD2 Zornitza Stark Publications for gene: SOD2 were set to
Mendeliome v0.2390 SOD2 Zornitza Stark Mode of inheritance for gene: SOD2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.2389 ASCC1 Zornitza Stark Gene: ascc1 has been classified as Green List (High Evidence).
Mendeliome v0.2389 ASCC1 Zornitza Stark Phenotypes for gene: ASCC1 were changed from to Spinal muscular atrophy with congenital bone fractures 2, MIM#616867
Mendeliome v0.2388 ASCC1 Zornitza Stark Publications for gene: ASCC1 were set to
Mendeliome v0.2387 ASCC1 Zornitza Stark Mode of inheritance for gene: ASCC1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2386 FEM1B Elena Savva gene: FEM1B was added
gene: FEM1B was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: FEM1B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: FEM1B were set to PMID: 31036916
Phenotypes for gene: FEM1B were set to Syndromic global developmental delay
Review for gene: FEM1B was set to AMBER
Added comment: No OMIM phenotype

PMID: 31036916 - a single de novo patient reported in a neurodevelopmental disorder cohort. Authors note another de novo case with the exact same variant (p.Arg126Gln) from the DDD study, and a 3rd patient from GeneMatcher with the same de novo missense again. Decipher shows this variant to be in a highly constrained region of the protein.

Have selected AMBER for now - not sure if GeneMatcher findings can be used as a 3rd case
Sources: Literature
Mendeliome v0.2386 SMAD2 Zornitza Stark Gene: smad2 has been classified as Green List (High Evidence).
Mendeliome v0.2386 SMAD2 Zornitza Stark Phenotypes for gene: SMAD2 were changed from to Aortic and arterial aneurysmal disease; connective tissue disease
Mendeliome v0.2385 SMAD2 Zornitza Stark Publications for gene: SMAD2 were set to
Mendeliome v0.2384 RXFP2 Alison Yeung Classified gene: RXFP2 as Red List (low evidence)
Mendeliome v0.2384 RXFP2 Alison Yeung Added comment: Comment on list classification: Only single reported family with animal model reported. Both reviews to date are based on same publication. No new publications/reported cases since this one.
Mendeliome v0.2384 RXFP2 Alison Yeung Gene: rxfp2 has been classified as Red List (Low Evidence).
Mendeliome v0.2383 SMCHD1 Teresa Zhao changed review comment from: Seven probands with FSHD reported to have LP/P variants, which all predicted to disrupt the structure and conformation of SMCHD1.; to: Seven probands with FSHD reported to have LP/P variants, which all predicted to disrupt the structure and conformation of SMCHD1.

No particular geno-pheno correlation, but location of missense variants within the ATPase domain of MSCHD1 may contribute to the differences in phenotypic outcome (PMID: 31243061)
Mendeliome v0.2383 GFAP Paul De Fazio changed review comment from: Many (>10) de novo individuals described with Alexander disease. Three forms of disease are described with decreasing severity: infant-onset, juveline-onset, and adult-onset. Later-onset cases are more phenotypically heterogeneous.; to: Many (>10) de novo individuals described with Alexander disease. Three forms of disease are described with decreasing severity: infant-onset, juveline-onset, and adult-onset. Later-onset cases are more phenotypically heterogeneous.
Mendeliome v0.2383 GFAP Paul De Fazio changed review comment from: Many (>10) de novo individuals described with Alexander disease. Three forms of disease are described with decreasing severity: infant-onset, juveline-onset, and adult-onset. Later-onset cases are more phenotypically heterogeneous.; to: Many (>10) de novo individuals described with Alexander disease. Three forms of disease are described with decreasing severity: infant-onset, juveline-onset, and adult-onset. Later-onset cases are more phenotypically heterogeneous.
Mendeliome v0.2383 SMAD2 Zornitza Stark Mode of inheritance for gene: SMAD2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2382 RXFP2 Zornitza Stark Gene: rxfp2 has been classified as Red List (Low Evidence).
Mendeliome v0.2382 RXFP2 Zornitza Stark Phenotypes for gene: RXFP2 were changed from to Cryptorchidism
Mendeliome v0.2381 RXFP2 Zornitza Stark Publications for gene: RXFP2 were set to
Mendeliome v0.2380 RXFP2 Zornitza Stark Mode of inheritance for gene: RXFP2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2379 RXFP2 Zornitza Stark Classified gene: RXFP2 as Red List (low evidence)
Mendeliome v0.2379 RXFP2 Zornitza Stark Gene: rxfp2 has been classified as Red List (Low Evidence).
Mendeliome v0.2378 RXFP2 Zornitza Stark reviewed gene: RXFP2: Rating: RED; Mode of pathogenicity: None; Publications: 31167797, 20963592; Phenotypes: Cryptorchidism; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2378 WIPI2 Melanie Marty gene: WIPI2 was added
gene: WIPI2 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: WIPI2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: WIPI2 were set to 30968111
Phenotypes for gene: WIPI2 were set to Intellectual developmental disorder with short stature and variable skeletal anomalies 618453
Review for gene: WIPI2 was set to AMBER
Added comment: Four homozygous patients from one consanguineous family with intellectual developmental, short stature and variable skeletal anomalies. Functional studies in patient cells showed impaired protein function.
Sources: Literature
Mendeliome v0.2378 SEC31A Hazel Phillimore gene: SEC31A was added
gene: SEC31A was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: SEC31A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SEC31A were set to PMID: 30464055
Phenotypes for gene: SEC31A were set to congenital neurodevelopmental syndrome; spastic paraplegia; multiple contractures; profound developmental delay; epilepsy; failure to thrive
Review for gene: SEC31A was set to AMBER
Added comment: Frameshift. c.2776_2777, TA duplication, causing predicted p.A927fs*61 truncation and predicted NMD in 2 affected siblings in consanguineous Bedouin family with severe congenital neurological syndrome with spastic paraplegia, multiple contractures, profound developmental delay and convulsions. Failure to thrive. Lethal by age 4 years. Also had hearing defect, bilateral congenital cataract, horizontal nystagmus, with flat retina and optic atrophy. Supporting functional assays from knockout drosophila.
Sources: Literature
Mendeliome v0.2378 SLC44A1 Sebastian Lunke gene: SLC44A1 was added
gene: SLC44A1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: SLC44A1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC44A1 were set to 31855247
Phenotypes for gene: SLC44A1 were set to progressive ataxia; tremor; cognitive decline; dysphagia; optic atrophy; dysarthria
Review for gene: SLC44A1 was set to GREEN
Added comment: Four affected individuals from three families with homozygous frameshift variants. Functional evidence points to impaired choline transporter function yet unchanged membrane phosphatidylcholine content. Choline treatments may be beneficial.
Sources: Literature
Mendeliome v0.2377 TBX6 Dean Phelan reviewed gene: TBX6: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30307510, 31015262; Phenotypes: congenital vertebral malformations, congenital scoliosis, spondylocostal dysostosis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.2377 SMCHD1 Teresa Zhao reviewed gene: SMCHD1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31600781; Phenotypes: Bosma arhinia microphthalmia syndrome, MIM 603457, Fascioscapulohumeral muscular dystrophy 2, digenic; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Mendeliome v0.2377 CDKL5 Ain Roesley reviewed gene: CDKL5: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 27080038, 30842224; Phenotypes: Rett syndrome, Rett-like phenotypes, Epileptic encephalopathy; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Mendeliome v0.2377 GSX2 Elena Savva gene: GSX2 was added
gene: GSX2 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: GSX2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GSX2 were set to PMID: 31412107
Phenotypes for gene: GSX2 were set to Diencephalic-mesencephalic junction dysplasia syndrome 2 618646
Review for gene: GSX2 was set to GREEN
Added comment: PMID: 31412107 - 2 unrelated patients with homozygous mutations (nonsense, missense). Functional analysis of the missense in transfected HeLa cells demonstrated protein mislocalization and protein expression. Downstream gene expression was also reduced by both mutations.

Summary: GREEN - 2 patients and functional evidence
Sources: Literature
Mendeliome v0.2377 SPEF2 Zornitza Stark Gene: spef2 has been classified as Green List (High Evidence).
Mendeliome v0.2377 SPEF2 Zornitza Stark Classified gene: SPEF2 as Green List (high evidence)
Mendeliome v0.2377 SPEF2 Zornitza Stark Gene: spef2 has been classified as Green List (High Evidence).
Mendeliome v0.2376 CREB3L1 Kristin Rigbye reviewed gene: CREB3L1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24079343, 28817112, 29936144, 30657919; Phenotypes: Osteogenesis imperfecta, type XVI, 616229; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2376 PKDCC Alison Yeung Gene: pkdcc has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2376 PKDCC Alison Yeung Classified gene: PKDCC as Amber List (moderate evidence)
Mendeliome v0.2376 PKDCC Alison Yeung Added comment: Comment on list classification: Two unrelated consanguineous families reported with different homozygous variants
Pre-existing mouse model has similar phenotype
Needs more functional evidence or further reported families
Mendeliome v0.2376 PKDCC Alison Yeung Gene: pkdcc has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2375 SPEF2 Chern Lim gene: SPEF2 was added
gene: SPEF2 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: SPEF2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SPEF2 were set to 31151990; 31278745; 31048344
Phenotypes for gene: SPEF2 were set to Spermatogenic failure 43, MIM#618751
Review for gene: SPEF2 was set to GREEN
gene: SPEF2 was marked as current diagnostic
Added comment: More than 3 unrelated families reported, all PTVs or splice variant. Functional studies showed SPEF2 protein levels were reduced in patients’ spermatozoa. (PMIDs: 31151990, 31278745, 31048344).
Sources: Literature
Mendeliome v0.2375 DHH Zornitza Stark Phenotypes for gene: DHH were changed from to 46XY partial gonadal dysgenesis, with minifascicular neuropathy, MIM# 607080
Mendeliome v0.2374 DHH Zornitza Stark Publications for gene: DHH were set to
Mendeliome v0.2373 DHH Zornitza Stark Mode of inheritance for gene: DHH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2372 ACKR3 Elena Savva gene: ACKR3 was added
gene: ACKR3 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: ACKR3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ACKR3 were set to PMID: 3121183
Phenotypes for gene: ACKR3 were set to Oculomotor synkinesis
Review for gene: ACKR3 was set to AMBER
Added comment: No phenotype currently listed in OMIM

PMID: 3121183 - 1 family (3 siblings and a cousin) with congenital ptosis and oculomotor synkinesis. Mouse model reciprocated the phenotype. Functional assay using transfected HEK293 cells show protein mislocalization and lower binding affinity

Emerging gene-disease association
Sources: Literature
Mendeliome v0.2372 CYLD Kristin Rigbye edited their review of gene: CYLD: Changed publications: 10835629, 16307661, 12950348, 19807742, 32185393
Mendeliome v0.2372 MYCN Zornitza Stark Gene: mycn has been classified as Green List (High Evidence).
Mendeliome v0.2372 CYLD Kristin Rigbye reviewed gene: CYLD: Rating: GREEN; Mode of pathogenicity: None; Publications: 10835629, 16307661, 12950348, 19807742; Phenotypes: Brooke-Spiegler syndrome, 605041, Cylindromatosis, familial, 132700, Trichoepithelioma, multiple familial, 1, 601606, Frontotemporal dementia and amyotrophic lateral sclerosis; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2372 MYCN Zornitza Stark Phenotypes for gene: MYCN were changed from to Feingold syndrome 1; megalencephaly; ventriculomegaly; hypoplastic corpus callosum; intellectual disability; polydactyly; neuroblastoma
Mendeliome v0.2371 CNNM4 Zornitza Stark Gene: cnnm4 has been classified as Green List (High Evidence).
Mendeliome v0.2371 PCDH19 Ee Ming Wong reviewed gene: PCDH19: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 18469813, 30287595; Phenotypes: PCDH19-related epilepsy (early seizure onset, generalised or focused seizures), cognitive impairment; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes
Mendeliome v0.2371 CNNM4 Zornitza Stark Phenotypes for gene: CNNM4 were changed from to Jalili syndrome 217080; amelogenesis imperfecta, cone-rod dystrophy
Mendeliome v0.2370 MYCN Zornitza Stark Publications for gene: MYCN were set to
Mendeliome v0.2369 MYCN Zornitza Stark Mode of inheritance for gene: MYCN was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2368 GFAP Paul De Fazio reviewed gene: GFAP: Rating: GREEN; Mode of pathogenicity: None; Publications: 11138011, 12034785, 31004048, 15732097; Phenotypes: Leukodystrophy, macrocephaly; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Mendeliome v0.2368 ATM Zornitza Stark Marked gene: ATM as ready
Mendeliome v0.2368 ATM Zornitza Stark Gene: atm has been classified as Green List (High Evidence).
Mendeliome v0.2368 CNNM4 Zornitza Stark Publications for gene: CNNM4 were set to
Mendeliome v0.2367 CNNM4 Zornitza Stark Mode of inheritance for gene: CNNM4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2366 ATM Zornitza Stark Mode of inheritance for gene: ATM was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2365 COPA Teresa Zhao reviewed gene: COPA: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31455335, 30804679; Phenotypes: Autoimmune interstitial lung, joint, and kidney disease, MIM 616414; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Mendeliome v0.2365 ADAMTS19 Crystle Lee changed review comment from: PMID: 31844321; Wünnemann 2020: 4 affected in 2 unrelated consanguineous families with non-syndromic heart valve disease. 1 family with an intragenic (exon 1-8) deletion and 1 nonsense variant. Carriers unaffected. Homozygous knockout mice for Adamts19 show aortic valve dysfunction, recapitulating aspects of the human phenotype
Sources: Expert Review; to: Borderline amber/green
PMID: 31844321; Wünnemann 2020: 4 affected in 2 unrelated consanguineous families with non-syndromic heart valve disease. 1 family with an intragenic (exon 1-8) deletion and 1 nonsense variant. Carriers unaffected. Homozygous knockout mice for Adamts19 show aortic valve dysfunction, recapitulating aspects of the human phenotype
Sources: Expert Review
Mendeliome v0.2365 FOXG1 Ain Roesley reviewed gene: FOXG1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID:18571142, 30842224; Phenotypes: Rett syndrome, Rett-like phenotypes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2365 ADAMTS19 Crystle Lee changed review comment from: PMID: 31844321; Wünnemann 2020: 4 affected in unrelated 2 consanguineous family with non-syndromic heart valve disease. 1 family with an intragenic (exon 1-8) deletion and 1 nonsense variant. Homozygous knockout mice for Adamts19 show aortic valve dysfunction, recapitulating aspects of the human phenotype
Sources: Expert Review; to: PMID: 31844321; Wünnemann 2020: 4 affected in 2 unrelated consanguineous families with non-syndromic heart valve disease. 1 family with an intragenic (exon 1-8) deletion and 1 nonsense variant. Carriers unaffected. Homozygous knockout mice for Adamts19 show aortic valve dysfunction, recapitulating aspects of the human phenotype
Sources: Expert Review
Mendeliome v0.2365 PLOD3 Sarah Pantaleo reviewed gene: PLOD3: Rating: GREEN; Mode of pathogenicity: None; Publications: 18834968, 31129566, 30237576, 30463024; Phenotypes: Lysyl hydroxylase 3 deficiency, MIM#612394; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.2365 SAMD12 Melanie Marty gene: SAMD12 was added
gene: SAMD12 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: SAMD12 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SAMD12 were set to 30194086; 29507423
Phenotypes for gene: SAMD12 were set to Epilepsy, familial adult myoclonic, 1 601068
Review for gene: SAMD12 was set to GREEN
Added comment: Repeat expansions of intronic TTTCA and TTTTA motifs within SAMD12 have been identified in over 50 Japanese and Chinese families. Most families with affected individuals were heterozygous however 4 patients from 3 families had homozygous repeat expansions, which was associated with a more severe phenotype. Western blot analysis showed decreased levels of the protein in patient brains.
Sources: Literature
Mendeliome v0.2365 FUS Elena Savva gene: FUS was added
gene: FUS was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: FUS was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: FUS were set to PMID: 32281455; 20668259; 20385912
Phenotypes for gene: FUS were set to Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia 608030; Essential tremor, hereditary, 4 614782
Mode of pathogenicity for gene: FUS was set to Other
Review for gene: FUS was set to GREEN
Added comment: PMID: 32281455 - Reports a case of Pediatric Amyotrophic Lateral Sclerosis. Reviews and shows multiple other reports of ALS casued by FUS

PMID: 20668259 - additional reports of ALS

PMID: 20385912 - postulated that disruption of this region may disrupt subcellular distribution of FUS, in turn affecting transcription and RNA processing and conferring a toxic gain of function.
Sources: Literature
Mendeliome v0.2365 TBX6 Sarah Pantaleo reviewed gene: TBX6: Rating: GREEN; Mode of pathogenicity: None; Publications: 8954725, 20503311, 23335591, 25564734, 31015262; Phenotypes: Skeletal dysplasia, spondylocostal dysostosis, congenital scoliosis; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.2365 UBE3A Ain Roesley reviewed gene: UBE3A: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 30842224; Phenotypes: Rett syndrome, Rett-like phenotypes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2365 ADAMTS19 Crystle Lee gene: ADAMTS19 was added
gene: ADAMTS19 was added to Mendeliome. Sources: Expert Review
Mode of inheritance for gene: ADAMTS19 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ADAMTS19 were set to 31844321
Phenotypes for gene: ADAMTS19 were set to Non-syndromic heart valve disease
Review for gene: ADAMTS19 was set to GREEN
Added comment: PMID: 31844321; Wünnemann 2020: 4 affected in unrelated 2 consanguineous family with non-syndromic heart valve disease. 1 family with an intragenic (exon 1-8) deletion and 1 nonsense variant. Homozygous knockout mice for Adamts19 show aortic valve dysfunction, recapitulating aspects of the human phenotype
Sources: Expert Review
Mendeliome v0.2365 ELOVL1 Hazel Phillimore changed review comment from: De novo in 2 unrelated patients. Decrease in ELOVL1 enzyme activity. The same 2 patients are in PMIDs: 30487246 and 29496980 but with different clinical findings. Deafness and optic atrophy are the additional features.; to: De novo missense (S165F) in 2 unrelated patients. Decrease in ELOVL1 enzyme activity. The same 2 patients are in PMIDs: 30487246 and 29496980 but with different clinical findings. Deafness and optic atrophy are the additional features.
Mendeliome v0.2365 C9orf72 Elena Savva gene: C9orf72 was added
gene: C9orf72 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: C9orf72 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: C9orf72 were set to PMID: 30120348; 23284068
Phenotypes for gene: C9orf72 were set to Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 105550
Review for gene: C9orf72 was set to AMBER
Added comment: Possibly RED

Caused by expansion of GGGGCC repeats, dont know if these qualify for mendeliome
Sources: Literature
Mendeliome v0.2365 ELOVL1 Hazel Phillimore reviewed gene: ELOVL1: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 30487246, 29496980; Phenotypes: ichthyosis, acanthosis nigricans, hypomyelination, spastic paraplegia, high frequency deafness, optic atrophy, nystagmus; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2365 TNFRSF21 Alison Yeung Marked gene: TNFRSF21 as ready
Mendeliome v0.2365 TNFRSF21 Alison Yeung Gene: tnfrsf21 has been classified as Red List (Low Evidence).
Mendeliome v0.2365 TNFRSF21 Alison Yeung Classified gene: TNFRSF21 as Red List (low evidence)
Mendeliome v0.2365 TNFRSF21 Alison Yeung Added comment: Comment on list classification: Report of single family
Limited functional evidence: tissue expression studies
Mendeliome v0.2365 TNFRSF21 Alison Yeung Gene: tnfrsf21 has been classified as Red List (Low Evidence).
Mendeliome v0.2364 YARS Dean Phelan reviewed gene: YARS: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 30304524, 29232904, 27633801, 19561293; Phenotypes: peripheral neuropathy, multisystem disease, CMT; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.2364 CFAP65 Daniel Flanagan gene: CFAP65 was added
gene: CFAP65 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: CFAP65 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CFAP65 were set to 31501240; 31413122
Phenotypes for gene: CFAP65 were set to Spermatogenic failure 40 618664
Penetrance for gene: CFAP65 were set to unknown
Review for gene: CFAP65 was set to GREEN
gene: CFAP65 was marked as current diagnostic
Added comment: 9 patients with multiple morphological abnormalities of the sperm flagella (MMAF) or completely immotile spermatozoa, in which, homozygous or compound heterozygous truncating CFAP65 variants were identified. Cfap65-mutated male mice displayed typical MMAF phenotypes with severe morphological abnormalities of the sperm flagella (PMID: 31501240, 31413122).
Sources: Literature
Mendeliome v0.2364 CAP2 Melanie Marty gene: CAP2 was added
gene: CAP2 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: CAP2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CAP2 were set to 30518548
Phenotypes for gene: CAP2 were set to Dilated cardiomyopathy
Review for gene: CAP2 was set to AMBER
Added comment: 2 patients with dilated cardiomyopathy from 1 consanguineous family. The splice variant identified in this family was proven to cause exon skipping and functional studies showed protein level was reduced. A Cap2 knockout mouse model correlated with the clinical phenotype of DCM and cardiac conduction disease, but not the other effects on growth, viability, wound healing and eye development.
Sources: Literature
Mendeliome v0.2364 USP45 Alison Yeung Gene: usp45 has been classified as Green List (High Evidence).
Mendeliome v0.2364 USP45 Alison Yeung Classified gene: USP45 as Green List (high evidence)
Mendeliome v0.2364 USP45 Alison Yeung Added comment: Comment on list classification: Two unrelated families
Functional studies in animal model recapitulate retinal phenotype
Mendeliome v0.2364 USP45 Alison Yeung Gene: usp45 has been classified as Green List (High Evidence).
Mendeliome v0.2363 SYCP2 Zornitza Stark Gene: sycp2 has been classified as Green List (High Evidence).
Mendeliome v0.2363 SYCP2 Zornitza Stark Classified gene: SYCP2 as Green List (high evidence)
Mendeliome v0.2363 SYCP2 Zornitza Stark Gene: sycp2 has been classified as Green List (High Evidence).
Mendeliome v0.2362 IGF1R Michelle Torres reviewed gene: IGF1R: Rating: GREEN; Mode of pathogenicity: None; Publications: 31586944; Phenotypes: Insulin-like growth factor I, resistance to 270450; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.2362 SHANK3 Ain Roesley reviewed gene: SHANK3: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30842224; Phenotypes: Rett syndrome, Rett-like phenotypes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2362 SCN1A Ee Ming Wong reviewed gene: SCN1A: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30368457, 12754708, 25754450; Phenotypes: Dravet Syndrome, Genetic Epilepsy Febrile Seizures plus (GEFS+) Syndrome, Febrile seizures; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Mendeliome v0.2362 SYCP2 Zornitza Stark gene: SYCP2 was added
gene: SYCP2 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: SYCP2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SYCP2 were set to 32092049; 31866047
Phenotypes for gene: SYCP2 were set to Male infertility
Review for gene: SYCP2 was set to GREEN
Added comment: Four individuals and a zebrafish model.
Sources: Literature
Mendeliome v0.2361 STXBP1 Ain Roesley reviewed gene: STXBP1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30842224; Phenotypes: Rett syndrome, Rett-like phenotypes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2361 NAA10 Naomi Baker reviewed gene: NAA10: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30842225.; Phenotypes: syndromic X-linked microphthalmia; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males); Current diagnostic: yes
Mendeliome v0.2361 WDR45 Ain Roesley reviewed gene: WDR45: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30842224; Phenotypes: Rett syndrome, Rett-like phenotypes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2361 SOD2 Chern Lim reviewed gene: SOD2: Rating: RED; Mode of pathogenicity: None; Publications: 31494578; Phenotypes: Lethal neonatal dilated cardiomyopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2361 ASCC1 Sarah Pantaleo reviewed gene: ASCC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 30327447, 12077347, 26924529, 31880396, 26503956; Phenotypes: Arthrogryposis, congenital bone fractures, spinal muscular atrophy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.2361 SMAD2 Melanie Marty reviewed gene: SMAD2: Rating: GREEN; Mode of pathogenicity: None; Publications: 29967133; Phenotypes: Aortic and arterial aneurysmal disease, connective tissue disease; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2361 MYCN Ain Roesley reviewed gene: MYCN: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 21224895, 8470948, 30573562; Phenotypes: Feingold syndrome 1, megalencephaly, ventriculomegaly, hypoplastic corpus callosum, intellectual disability, polydactyly, neuroblastoma; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2361 MYCN Ain Roesley Deleted their review
Mendeliome v0.2361 MYCN Ain Roesley changed review comment from: PMID: 30573562; case report of an individual with a missense in MYCN with functional studies done in neuronal progenitor/stem cells demonstrating gain-of-function; to: PMID: 30573562; case report of an individual with a missense in MYCN with functional studies done in neuronal progenitor/stem cells demonstrating gain-of-function
Mendeliome v0.2361 RXFP2 Teresa Zhao reviewed gene: RXFP2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31167797, 20963592; Phenotypes: Cryptorchidism; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.2361 PKDCC Paul De Fazio gene: PKDCC was added
gene: PKDCC was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: PKDCC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PKDCC were set to PMID:30478137; 19097194
Phenotypes for gene: PKDCC were set to Dysmorphism; shortening of extremities
Review for gene: PKDCC was set to AMBER
gene: PKDCC was marked as current diagnostic
Added comment: 2 ("apparently") unrelated individuals with homozygous LoF (1x nonsense, 1x canonical splice) variants reported. Their phenotype is similar to knockout mice.
Sources: Literature
Mendeliome v0.2361 DHH Naomi Baker reviewed gene: DHH: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31018998, 29471294, 11017805; Phenotypes: gonadal dysgenesis, minifascicular neuropathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2361 MYCN Ain Roesley edited their review of gene: MYCN: Added comment: PMID: 30573562; case report of an individual with a missense in MYCN with functional studies done in neuronal progenitor/stem cells demonstrating gain-of-function; Changed rating: RED; Changed publications: PMID: 30573562; Changed phenotypes: megalencephaly, ventriculomegaly, hypoplastic corpus callosum, intellectual disability, polydactyly, neuroblastoma
Mendeliome v0.2361 MYCN Ain Roesley reviewed gene: MYCN: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 18470948, 21224895; Phenotypes: Feingold syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2361 TNFRSF21 Shannon Cowie gene: TNFRSF21 was added
gene: TNFRSF21 was added to Mendeliome. Sources: Other
Mode of inheritance for gene: TNFRSF21 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TNFRSF21 were set to PMID: 31189563
Phenotypes for gene: TNFRSF21 were set to high myopia
Review for gene: TNFRSF21 was set to RED
gene: TNFRSF21 was marked as current diagnostic
Added comment: Source: JMG review Oct 2019
Large Chinese family, including 12 patients with non-syndromic HM
Immunofluorescence assay indicated that it is strongly expressed in the mouse eye.
Sources: Other
Mendeliome v0.2361 USP45 Kristin Rigbye gene: USP45 was added
gene: USP45 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: USP45 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: USP45 were set to 30573563
Phenotypes for gene: USP45 were set to Leber congenital amaurosis; retinal dystrophy
Review for gene: USP45 was set to GREEN
Added comment: 2 unrelated Chinese families reported with rare homozygous variants (one missense, one nonsense) and Leber congenital amaurosis. Animal knockout functional studies supported gene-disease association.

PMID: 30573563 "By analysing WES data based on allele frequencies of in-house controls, population allele frequencies and in silico prediction tools, two rare homozygous mutations in USP45 were identified in two unrelated families. Immunohistochemistry of USP45 in the human and zebrafish retinal sections revealed enriched expression in the inner segments of photoreceptors. The knockdown of usp45 transcript in zebrafish led to abnormal retinal development with effects on photoreceptors, which could be successfully rescued by wild-type usp45 mRNA. Moreover, targeted knockout of Usp45 in mice caused abnormal electroretinography responses, similar to that seen in patients with LCA."
Sources: Literature
Mendeliome v0.2361 CNNM4 Ain Roesley reviewed gene: CNNM4: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30705057; Phenotypes: Jalili syndrome (amelogenesis imperfecta, cone-rod dystrophy); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2361 ATM Kristin Rigbye reviewed gene: ATM: Rating: GREEN; Mode of pathogenicity: None; Publications: 30819809; Phenotypes: Ataxia-telangiectasia MIM#208900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2361 BAZ2B Zornitza Stark Gene: baz2b has been classified as Green List (High Evidence).
Mendeliome v0.2361 BAZ2B Zornitza Stark Classified gene: BAZ2B as Green List (high evidence)
Mendeliome v0.2361 BAZ2B Zornitza Stark Gene: baz2b has been classified as Green List (High Evidence).
Mendeliome v0.2360 BAZ2B Zornitza Stark gene: BAZ2B was added
gene: BAZ2B was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: BAZ2B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: BAZ2B were set to 31999386; 28135719; 25363768
Phenotypes for gene: BAZ2B were set to Intellectual disability; autism
Review for gene: BAZ2B was set to GREEN
Added comment: Postulated as a candidate gene for ID/ASD by large-scale studies. Case series reports two individuals with small CNVs and and six with SNVs, mostly LoF type variants. Although the gene is generally intolerant of LoF, some LoF variants present in gnomad ?incomplete penetrance. Additional reported features were inconsistent
Sources: Literature
Mendeliome v0.2359 TPI1 Zornitza Stark Marked gene: TPI1 as ready
Mendeliome v0.2359 TPI1 Zornitza Stark Gene: tpi1 has been classified as Green List (High Evidence).
Mendeliome v0.2359 TPI1 Zornitza Stark Classified gene: TPI1 as Green List (high evidence)
Mendeliome v0.2359 TPI1 Zornitza Stark Gene: tpi1 has been classified as Green List (High Evidence).
Mendeliome v0.2358 TPI1 Zornitza Stark gene: TPI1 was added
gene: TPI1 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: TPI1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TPI1 were set to Hemolytic anemia due to triosephosphate isomerase deficiency, MIM# 615512
Review for gene: TPI1 was set to GREEN
Added comment: Sources: Expert list
Mendeliome v0.2357 EMG1 Zornitza Stark Gene: emg1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2357 EMG1 Zornitza Stark Classified gene: EMG1 as Amber List (moderate evidence)
Mendeliome v0.2357 EMG1 Zornitza Stark Gene: emg1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2356 EMG1 Zornitza Stark gene: EMG1 was added
gene: EMG1 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: EMG1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EMG1 were set to 19463982
Phenotypes for gene: EMG1 were set to Bowen-Conradi syndrome, MIM#211180
Review for gene: EMG1 was set to AMBER
Added comment: Founder mutation in Hutterite, D86G.
Sources: Expert list
Mendeliome v0.2355 EIF2AK4 Zornitza Stark Gene: eif2ak4 has been classified as Green List (High Evidence).
Mendeliome v0.2355 EIF2AK4 Zornitza Stark Classified gene: EIF2AK4 as Green List (high evidence)
Mendeliome v0.2355 EIF2AK4 Zornitza Stark Gene: eif2ak4 has been classified as Green List (High Evidence).
Mendeliome v0.2354 EIF2AK4 Zornitza Stark gene: EIF2AK4 was added
gene: EIF2AK4 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: EIF2AK4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EIF2AK4 were set to Pulmonary venoocclusive disease 2, MIM#234810
Review for gene: EIF2AK4 was set to GREEN
Added comment: Sources: Expert list
Mendeliome v0.2353 AGBL5 Zornitza Stark Gene: agbl5 has been classified as Green List (High Evidence).
Mendeliome v0.2353 AGBL5 Zornitza Stark Classified gene: AGBL5 as Green List (high evidence)
Mendeliome v0.2353 AGBL5 Zornitza Stark Gene: agbl5 has been classified as Green List (High Evidence).
Mendeliome v0.2352 AGBL5 Zornitza Stark gene: AGBL5 was added
gene: AGBL5 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: AGBL5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AGBL5 were set to 26720455; 26355662; 30925032
Phenotypes for gene: AGBL5 were set to Retinitis pigmentosa 75, MIM# 617023
Review for gene: AGBL5 was set to GREEN
Added comment: At least three unrelated families reported.
Sources: Expert list
Mendeliome v0.2351 CPT1C Bryony Thompson Marked gene: CPT1C as ready
Mendeliome v0.2351 CPT1C Bryony Thompson Gene: cpt1c has been classified as Green List (High Evidence).
Mendeliome v0.2351 CPT1C Bryony Thompson Classified gene: CPT1C as Green List (high evidence)
Mendeliome v0.2351 CPT1C Bryony Thompson Gene: cpt1c has been classified as Green List (High Evidence).
Mendeliome v0.2350 CPT1C Bryony Thompson gene: CPT1C was added
gene: CPT1C was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: CPT1C was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CPT1C were set to 25751282; 23973755
Phenotypes for gene: CPT1C were set to Spastic paraplegia 73, autosomal dominant MIM#616282
Review for gene: CPT1C was set to GREEN
Added comment: Two unrelated families dominant HSP and a supportive mouse model.
Sources: Expert list
Mendeliome v0.2349 ATP2B4 Bryony Thompson Marked gene: ATP2B4 as ready
Mendeliome v0.2349 ATP2B4 Bryony Thompson Gene: atp2b4 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2349 ATP2B4 Bryony Thompson Classified gene: ATP2B4 as Amber List (moderate evidence)
Mendeliome v0.2349 ATP2B4 Bryony Thompson Gene: atp2b4 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2348 ATP2B4 Bryony Thompson gene: ATP2B4 was added
gene: ATP2B4 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: ATP2B4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ATP2B4 were set to 25119969; 25798335; 29691679
Phenotypes for gene: ATP2B4 were set to Hereditary spastic paraplegia
Review for gene: ATP2B4 was set to AMBER
Added comment: One Chinese family segregating a missense variant with HSP and one HSP case with a assumed de novo nonsense variant. Supporting in vitro functional assays for the missense variant.
Sources: Expert list
Mendeliome v0.2345 SEC63 Zornitza Stark Gene: sec63 has been classified as Green List (High Evidence).
Mendeliome v0.2345 SEC63 Zornitza Stark Phenotypes for gene: SEC63 were changed from to Polycystic liver disease 2, MIM# 617004
Mendeliome v0.2344 SEC63 Zornitza Stark Publications for gene: SEC63 were set to
Mendeliome v0.2343 SEC63 Zornitza Stark Mode of inheritance for gene: SEC63 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2342 CYP1B1 Zornitza Stark Gene: cyp1b1 has been classified as Green List (High Evidence).
Mendeliome v0.2342 CYP1B1 Zornitza Stark Phenotypes for gene: CYP1B1 were changed from to Anterior segment dysgenesis 6, multiple subtypes, 617315; Glaucoma 3A, primary open angle, congenital, juvenile, or adult onset, 231300
Mendeliome v0.2341 CYP1B1 Zornitza Stark Publications for gene: CYP1B1 were set to
Mendeliome v0.2340 CYP1B1 Zornitza Stark Mode of inheritance for gene: CYP1B1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2339 DAG1 Zornitza Stark Gene: dag1 has been classified as Green List (High Evidence).
Mendeliome v0.2339 DAG1 Zornitza Stark Phenotypes for gene: DAG1 were changed from to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9, 613818; Walker-Warburg syndrome and tectocerebellar dysgraphia
Mendeliome v0.2338 DAG1 Zornitza Stark Publications for gene: DAG1 were set to
Mendeliome v0.2337 DAG1 Zornitza Stark Mode of inheritance for gene: DAG1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2336 DPYD Zornitza Stark Gene: dpyd has been classified as Green List (High Evidence).
Mendeliome v0.2336 DPYD Zornitza Stark Phenotypes for gene: DPYD were changed from to 5-fluorouracil toxicity 274270; Dihydropyrimidine dehydrogenase deficiency 274270
Mendeliome v0.2335 DPYD Zornitza Stark Publications for gene: DPYD were set to
Mendeliome v0.2334 DPYD Zornitza Stark Mode of inheritance for gene: DPYD was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2333 MFSD8 Zornitza Stark Gene: mfsd8 has been classified as Green List (High Evidence).
Mendeliome v0.2333 MFSD8 Zornitza Stark Phenotypes for gene: MFSD8 were changed from to Ceroid lipofuscinosis, neuronal, 7 610951; Macular dystrophy with central cone involvement 616170
Mendeliome v0.2332 MFSD8 Zornitza Stark Publications for gene: MFSD8 were set to
Mendeliome v0.2331 MFSD8 Zornitza Stark Mode of inheritance for gene: MFSD8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2330 NF1 Zornitza Stark Gene: nf1 has been classified as Green List (High Evidence).
Mendeliome v0.2330 NF1 Zornitza Stark Phenotypes for gene: NF1 were changed from to Leukemia, juvenile myelomonocytic 607785; Neurofibromatosis, familial spinal 162210; Neurofibromatosis, type 1 162200; Neurofibromatosis-Noonan syndrome 601321; Watson syndrome 193520
Mendeliome v0.2329 NF1 Zornitza Stark Mode of inheritance for gene: NF1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2328 TECTA Zornitza Stark Marked gene: TECTA as ready
Mendeliome v0.2328 TECTA Zornitza Stark Added comment: Comment when marking as ready: Both recessive and dominant deafness associations assessed as DEFINITIVE by ClinGen.
Mendeliome v0.2328 TECTA Zornitza Stark Gene: tecta has been classified as Green List (High Evidence).
Mendeliome v0.2328 TECTA Zornitza Stark Phenotypes for gene: TECTA were changed from to Deafness, autosomal recessive 21 603629; Deafness, autosomal dominant 8/12 601543
Mendeliome v0.2327 TECTA Zornitza Stark Publications for gene: TECTA were set to
Mendeliome v0.2326 TECTA Zornitza Stark Mode of pathogenicity for gene: TECTA was changed from to Other
Mendeliome v0.2325 TECTA Zornitza Stark Mode of inheritance for gene: TECTA was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.2324 TRAPPC9 Zornitza Stark Publications for gene: TRAPPC9 were set to 22549410; 20004765; 20004763
Mendeliome v0.2323 TRAPPC9 Zornitza Stark Marked gene: TRAPPC9 as ready
Mendeliome v0.2323 TRAPPC9 Zornitza Stark Gene: trappc9 has been classified as Green List (High Evidence).
Mendeliome v0.2323 TRAPPC9 Zornitza Stark Phenotypes for gene: TRAPPC9 were changed from to Mental retardation, autosomal recessive 13, MIM# 613192
Mendeliome v0.2322 TRAPPC9 Zornitza Stark Publications for gene: TRAPPC9 were set to
Mendeliome v0.2321 TRAPPC9 Zornitza Stark Mode of inheritance for gene: TRAPPC9 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2320 TRAPPC9 Zornitza Stark reviewed gene: TRAPPC9: Rating: GREEN; Mode of pathogenicity: None; Publications: 22549410, 20004765, 20004763; Phenotypes: Mental retardation, autosomal recessive 13, MIM# 613192; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2320 SOS1 Zornitza Stark Added comment: Comment when marking as ready: The association with Noonan syndrome is well established; the association with gingival fibromatosis is questionable.
Mendeliome v0.2320 SOS1 Zornitza Stark Gene: sos1 has been classified as Green List (High Evidence).
Mendeliome v0.2320 SOS1 Zornitza Stark Phenotypes for gene: SOS1 were changed from to ?Fibromatosis, gingival, 1, 135300; Noonan syndrome 4, 610733
Mendeliome v0.2319 SOS1 Zornitza Stark Publications for gene: SOS1 were set to
Mendeliome v0.2318 SOS1 Zornitza Stark Mode of pathogenicity for gene: SOS1 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Mendeliome v0.2317 SOS1 Zornitza Stark Mode of inheritance for gene: SOS1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2316 F11 Zornitza Stark Gene: f11 has been classified as Green List (High Evidence).
Mendeliome v0.2316 F11 Zornitza Stark Phenotypes for gene: F11 were changed from to Factor XI deficiency, autosomal dominant 612416; Factor XI deficiency, autosomal recessive, MIM#612416
Mendeliome v0.2315 F11 Zornitza Stark Publications for gene: F11 were set to
Mendeliome v0.2314 F11 Zornitza Stark Mode of inheritance for gene: F11 was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mendeliome v0.2313 MED13L Zornitza Stark Added comment: Comment when marking as ready: The evidence for isolated CHD much less compelling than the association with a neurodevelopmental syndrome.
Mendeliome v0.2313 MED13L Zornitza Stark Gene: med13l has been classified as Green List (High Evidence).
Mendeliome v0.2313 MED13L Zornitza Stark Phenotypes for gene: MED13L were changed from to Mental retardation and distinctive facial features with or without cardiac defects 616789; Transposition of the great arteries, dextro-looped 1 608808
Mendeliome v0.2312 FMR1 Bryony Thompson Tag STR tag was added to gene: FMR1.
Mendeliome v0.2312 DMPK Bryony Thompson Tag STR tag was added to gene: DMPK.
Mendeliome v0.2312 MED13L Zornitza Stark Publications for gene: MED13L were set to
Mendeliome v0.2311 MED13L Zornitza Stark Mode of inheritance for gene: MED13L was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2310 PROKR2 Zornitza Stark Gene: prokr2 has been classified as Green List (High Evidence).
Mendeliome v0.2310 BEAN1 Bryony Thompson Tag STR tag was added to gene: BEAN1.
Mendeliome v0.2310 CCT5 Bryony Thompson Classified gene: CCT5 as Amber List (moderate evidence)
Mendeliome v0.2310 CCT5 Bryony Thompson Gene: cct5 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2309 CCT5 Bryony Thompson reviewed gene: CCT5: Rating: AMBER; Mode of pathogenicity: None; Publications: 16399879, 25124038, 25345891; Phenotypes: Neuropathy, hereditary sensory, with spastic paraplegia MIM#256840; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2309 PROKR2 Zornitza Stark Phenotypes for gene: PROKR2 were changed from to Hypogonadotropic hypogonadism 3 with or without anosmia, MIM# 244200
Mendeliome v0.2308 PROKR2 Zornitza Stark Publications for gene: PROKR2 were set to
Mendeliome v0.2307 PROKR2 Zornitza Stark Mode of pathogenicity for gene: PROKR2 was changed from to Other
Mendeliome v0.2306 PROKR2 Zornitza Stark Mode of inheritance for gene: PROKR2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.2305 PROKR2 Elena Savva reviewed gene: PROKR2: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID:18826963, 29161432; Phenotypes: Hypogonadotropic hypogonadism 3 with or without anosmia 244200; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.2305 MED13L Elena Savva reviewed gene: MED13L: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID 29511999; Phenotypes: Mental retardation and distinctive facial features with or without cardiac defects 616789, Transposition of the great arteries, dextro-looped 1 608808; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Mendeliome v0.2305 F11 Elena Savva reviewed gene: F11: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID:18446632, 15026311; Phenotypes: Factor XI deficiency, autosomal dominant 612416, Factor XI deficiency, autosomal recessive; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.2305 SOS1 Elena Savva reviewed gene: SOS1: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: PMID: 25062969, 17143285, 17143282; Phenotypes: ?Fibromatosis, gingival, 1, 135300, Noonan syndrome 4, 610733; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mendeliome v0.2305 XRCC1 Bryony Thompson Gene: xrcc1 has been classified as Green List (High Evidence).
Mendeliome v0.2305 XRCC1 Bryony Thompson Classified gene: XRCC1 as Green List (high evidence)
Mendeliome v0.2305 XRCC1 Bryony Thompson Gene: xrcc1 has been classified as Green List (High Evidence).
Mendeliome v0.2304 XRCC1 Bryony Thompson gene: XRCC1 was added
gene: XRCC1 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: XRCC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: XRCC1 were set to 28002403; 29472272
Phenotypes for gene: XRCC1 were set to Spinocerebellar ataxia, autosomal recessive 26 MIM#617633
Review for gene: XRCC1 was set to GREEN
Added comment: Three South Asian cases (one with early adult onset and the other two with onset in childhood) reported with slowly progressive cerebellar ataxia accompanied by sensorimotor neuropathy. All with the recurrent splice variant (c.1293G>C, 2 homozygotes and a compound heterozygote). Mice with conditional deletion of the Xrcc1 gene in the brain showed cerebellar ataxia.
Sources: Expert list
Mendeliome v0.2303 TRAPPC9 Elena Savva reviewed gene: TRAPPC9: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mental retardation, autosomal recessive 13, 613192; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2303 TECTA Elena Savva reviewed gene: TECTA: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID:22718023, 17136632, 31554319, 21520338; Phenotypes: Deafness, autosomal recessive 21 603629, Deafness, autosomal dominant 8/12 601543; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.2303 NF1 Elena Savva reviewed gene: NF1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Leukemia, juvenile myelomonocytic 607785, Neurofibromatosis, familial spinal 162210, Neurofibromatosis, type 1 162200, Neurofibromatosis-Noonan syndrome 601321, Watson syndrome 193520; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Mendeliome v0.2303 TRPC3 Bryony Thompson Marked gene: TRPC3 as ready
Mendeliome v0.2303 TRPC3 Bryony Thompson Gene: trpc3 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2303 TRPC3 Bryony Thompson Classified gene: TRPC3 as Amber List (moderate evidence)
Mendeliome v0.2303 TRPC3 Bryony Thompson Gene: trpc3 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2302 TRPC3 Bryony Thompson gene: TRPC3 was added
gene: TRPC3 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: TRPC3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TRPC3 were set to 25477146; 19351902
Phenotypes for gene: TRPC3 were set to Spinocerebellar ataxia 41 MIM#616410
Mode of pathogenicity for gene: TRPC3 was set to Other
Review for gene: TRPC3 was set to AMBER
Added comment: A heterozygous gain-of function missense has been identified in a 40-year-old man with adult-onset spinocerebellar ataxia. A mouse model of dominant cerebellar ataxia, termed 'moonwalker', contains a gain-of-function variant in this gene.
Sources: Expert list
Mendeliome v0.2301 MFSD8 Elena Savva reviewed gene: MFSD8: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID:31006324; Phenotypes: Ceroid lipofuscinosis, neuronal, 7 610951, Macular dystrophy with central cone involvement 616170; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2301 DPYD Elena Savva reviewed gene: DPYD: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 29152729; Phenotypes: 5-fluorouracil toxicity 274270, Dihydropyrimidine dehydrogenase deficiency 274270; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2301 DAG1 Elena Savva reviewed gene: DAG1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 29337005, 25503980; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9, Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9, 613818, Walker-Warburg syndrome and tectocerebellar dysgraphia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2301 CYP1B1 Elena Savva reviewed gene: CYP1B1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID:21730847, 27243976; Phenotypes: Anterior segment dysgenesis 6, multiple subtypes, 617315, Glaucoma 3A, primary open angle, congenital, juvenile, or adult onset, 231300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2301 SEC63 Elena Savva reviewed gene: SEC63: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 23209713, 20095989; Phenotypes: Polycystic liver disease 2 617004; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Mendeliome v0.2301 SLC9A1 Zornitza Stark Gene: slc9a1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2301 SLC9A1 Zornitza Stark Classified gene: SLC9A1 as Amber List (moderate evidence)
Mendeliome v0.2301 SLC9A1 Zornitza Stark Gene: slc9a1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2300 SLC9A1 Zornitza Stark gene: SLC9A1 was added
gene: SLC9A1 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: SLC9A1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC9A1 were set to 25205112; 30018422; 25760855
Phenotypes for gene: SLC9A1 were set to Lichtenstein-Knorr syndrome, MIM# 616291
Review for gene: SLC9A1 was set to AMBER
Added comment: Two families with bi-allelic variants in this gene reported and combination of deafness and ataxia.
Sources: Expert list
Mendeliome v0.2299 MTCL1 Bryony Thompson Marked gene: MTCL1 as ready
Mendeliome v0.2299 MTCL1 Bryony Thompson Gene: mtcl1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2299 MTCL1 Bryony Thompson Classified gene: MTCL1 as Amber List (moderate evidence)
Mendeliome v0.2299 MTCL1 Bryony Thompson Gene: mtcl1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2298 MTCL1 Bryony Thompson gene: MTCL1 was added
gene: MTCL1 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: MTCL1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: MTCL1 were set to 30548255; 28283581
Phenotypes for gene: MTCL1 were set to slowly progressive cerebellar ataxia; mild intellectual disability; seizures; episodic pain; spinocerebellar ataxia
Review for gene: MTCL1 was set to AMBER
Added comment: Single case with a homozygous loss of function variant in a Polish study of early-onset cerebellar ataxia, and a single family with a single heterozygous missense (p.Val1435Met) identified in two family members with adult-onset spinocerebellar ataxia. Mtcl1 gene disruption in mice results in abnormal motor coordination with Purkinje cell degeneration
Sources: Expert list
Mendeliome v0.2297 ATG5 Bryony Thompson Classified gene: ATG5 as Amber List (moderate evidence)
Mendeliome v0.2297 ATG5 Bryony Thompson Gene: atg5 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2296 ATG5 Bryony Thompson gene: ATG5 was added
gene: ATG5 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: ATG5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ATG5 were set to 16625204; 26812546
Phenotypes for gene: ATG5 were set to Spinocerebellar ataxia, autosomal recessive 25 MIM#617584
Review for gene: ATG5 was set to AMBER
Added comment: A homozgyous variant was identified in a single family with two affected siblings. Mice deficient for Atg5 specifically in neural cells and Atg5 null Drosophila develop progressive deficits in motor function.
Sources: Expert list
Mendeliome v0.2295 IL18BP Zornitza Stark gene: IL18BP was added
gene: IL18BP was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: IL18BP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IL18BP were set to 31213488
Phenotypes for gene: IL18BP were set to {?Hepatitis, fulminant viral, susceptibility to} 618549
Review for gene: IL18BP was set to RED
Added comment: Single individual reported with homozygous 40bp deletion in this gene and fulminant Hep A hepatitis.
Sources: Expert list
Mendeliome v0.2294 IRF4 Zornitza Stark Phenotypes for gene: IRF4 were changed from to Whipple's disease; [Skin/hair/eye pigmentation, variation in, 8] 611724
Mendeliome v0.2293 IRF4 Zornitza Stark Publications for gene: IRF4 were set to
Mendeliome v0.2292 IRF4 Zornitza Stark Mode of inheritance for gene: IRF4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2291 IRF4 Zornitza Stark Classified gene: IRF4 as Red List (low evidence)
Mendeliome v0.2291 IRF4 Zornitza Stark Gene: irf4 has been classified as Red List (Low Evidence).
Mendeliome v0.2290 IRF4 Zornitza Stark reviewed gene: IRF4: Rating: RED; Mode of pathogenicity: None; Publications: 29537367; Phenotypes: Whipple's disease, [Skin/hair/eye pigmentation, variation in, 8] 611724; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2290 ACOX2 Zornitza Stark Added comment: Comment when marking as ready: The ACOX2 gene encodes a peroxisomal branched-chain acyl-CoA oxidase involved in bile acid synthesis.
Mendeliome v0.2290 ACOX2 Zornitza Stark Gene: acox2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2290 ACOX2 Zornitza Stark Classified gene: ACOX2 as Amber List (moderate evidence)
Mendeliome v0.2290 ACOX2 Zornitza Stark Gene: acox2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2289 ACOX2 Zornitza Stark gene: ACOX2 was added
gene: ACOX2 was added to Mendeliome. Sources: Expert Review
Mode of inheritance for gene: ACOX2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ACOX2 were set to 27647924; 27884763
Phenotypes for gene: ACOX2 were set to Bile acid synthesis defect, congenital, 6, 617308
Review for gene: ACOX2 was set to AMBER
Added comment: Two unrelated families reported.
Sources: Expert Review
Mendeliome v0.2288 LARS Zornitza Stark Gene: lars has been classified as Green List (High Evidence).
Mendeliome v0.2288 LARS Zornitza Stark Classified gene: LARS as Green List (high evidence)
Mendeliome v0.2288 LARS Zornitza Stark Gene: lars has been classified as Green List (High Evidence).
Mendeliome v0.2287 LARS Zornitza Stark gene: LARS was added
gene: LARS was added to Mendeliome. Sources: NHS GMS
Mode of inheritance for gene: LARS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LARS were set to 28774368; 30349989; 22607940
Phenotypes for gene: LARS were set to Infantile liver failure syndrome 1, MIM# 615438
Review for gene: LARS was set to GREEN
gene: LARS was marked as current diagnostic
Added comment: Six unrelated families reported in the literature, reviewed in PMID: 30349989.
Sources: NHS GMS
Mendeliome v0.2286 KCNJ11 Zornitza Stark Gene: kcnj11 has been classified as Green List (High Evidence).
Mendeliome v0.2286 KCNJ11 Zornitza Stark Phenotypes for gene: KCNJ11 were changed from to {Diabetes mellitus, type 2, susceptibility to} 125853; Diabetes mellitus, transient neonatal, 3 610582; Diabetes, permanent neonatal, with or without neurologic features 606176; Hyperinsulinemic hypoglycemia, familial, 2 601820; Maturity-onset diabetes of the young, type 13 616329 AD
Mendeliome v0.2285 KCNJ11 Zornitza Stark Publications for gene: KCNJ11 were set to
Mendeliome v0.2284 KCNJ11 Zornitza Stark Mode of pathogenicity for gene: KCNJ11 was changed from to Other
Mendeliome v0.2283 KCNJ11 Zornitza Stark Mode of inheritance for gene: KCNJ11 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.2282 SIPA1L3 Bryony Thompson Gene: sipa1l3 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2282 SIPA1L3 Bryony Thompson Classified gene: SIPA1L3 as Amber List (moderate evidence)
Mendeliome v0.2282 SIPA1L3 Bryony Thompson Gene: sipa1l3 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2281 SIPA1L3 Bryony Thompson gene: SIPA1L3 was added
gene: SIPA1L3 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: SIPA1L3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: SIPA1L3 were set to 28951961; 27993984; 25804400
Phenotypes for gene: SIPA1L3 were set to Cataract 45 MIM#616851
Review for gene: SIPA1L3 was set to AMBER
Added comment: A consanguineous German family segregating a homozygous nonsense mutation in two sisters with congenital cataracts (PMID: 25804400). Null Zebrafish, Xenopus and mouse models recapitulate the human cataract phenotype. A case with congenital cataracts as a feature of their condition harboured a de novo balanced chromosomal translocation, 46,XY,t(2;19)(q37.3;q13.1), where breakpoint mapping and sequencing showed a physical disruption of the 5′UTR of SIPA1L3 (PMID: 26231217). In a case with bilateral congenital cataracts a heterozygous missense (D148Y) was identified and in vitro functional assays of the variant resulted in abnormal actin morphology (PMID: 26231217).
Sources: Expert list
Mendeliome v0.2280 KCNJ11 Elena Savva edited their review of gene: KCNJ11: Added comment: Congenital hyperinsulinism (HI) variants are generally reported in heterozygous patients where they also carry a somatic 2nd hit, or have isodisomy of the paternal allele (focal HI), or in bilallelic patients (diffuse HI). This condition can be dominant (but rarely), where patients with these missense are diazoxide-responsive. Patients with recessively inherited variants are diazoxide-unresponsive (OMIM, PMID:11395395, PMID: 23275527, PMID: 23345197).

Genotype-phenotype correlation:
Permanent neonatal diabetes – GOF (OMIM)
Permanent neonatal diabetes + other features – GOF (OMIM)
Congenital hyperinsulinism – LOF (PMID:18250167).

PTCs - LOF
Missense - Loss and gain of function
LOF – cause reduce channel expression, channel activity and increase current decay (PMID:18250167)
GOF - impair ATP-based sensitivity, more open state channel (OMIM)

Mutations generally occur on the paternal allele (PMID: 23345197).; Changed publications: PMID:18250167, 11395395, 23275527, 23345197
Mendeliome v0.2280 KCNJ11 Elena Savva reviewed gene: KCNJ11: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: {Diabetes mellitus, type 2, susceptibility to} 125853, Diabetes mellitus, transient neonatal, 3 610582, Diabetes, permanent neonatal, with or without neurologic features 606176, Hyperinsulinemic hypoglycemia, familial, 2 601820, Maturity-onset diabetes of the young, type 13 616329 AD; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.2280 SLC18A2 Zornitza Stark Gene: slc18a2 has been classified as Green List (High Evidence).
Mendeliome v0.2280 SLC18A2 Zornitza Stark Classified gene: SLC18A2 as Green List (high evidence)
Mendeliome v0.2280 SLC18A2 Zornitza Stark Gene: slc18a2 has been classified as Green List (High Evidence).
Mendeliome v0.2279 SLC18A2 Zornitza Stark gene: SLC18A2 was added
gene: SLC18A2 was added to Mendeliome. Sources: Expert Review
Mode of inheritance for gene: SLC18A2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC18A2 were set to 23363473; 31240161; 26497564
Phenotypes for gene: SLC18A2 were set to Parkinsonism-dystonia, infantile, 2, MIM# 618049
Review for gene: SLC18A2 was set to GREEN
Added comment: At least three unrelated families reported, potential treatment implications
Sources: Expert Review
Mendeliome v0.2278 RNU4ATAC Zornitza Stark Marked gene: RNU4ATAC as ready
Mendeliome v0.2278 RNU4ATAC Zornitza Stark Added comment: Comment when marking as ready: Note gene is not protein coding.
Mendeliome v0.2278 RNU4ATAC Zornitza Stark Gene: rnu4atac has been classified as Green List (High Evidence).
Mendeliome v0.2278 RNU4ATAC Zornitza Stark Phenotypes for gene: RNU4ATAC were changed from to Microcephalic osteodysplastic primordial dwarfism, type I (MIM# 210710); Roifman syndrome (MIM# 616651)
Mendeliome v0.2277 RNU4ATAC Zornitza Stark Publications for gene: RNU4ATAC were set to
Mendeliome v0.2276 RNU4ATAC Zornitza Stark Mode of inheritance for gene: RNU4ATAC was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2275 RNU4ATAC Ain Roesley reviewed gene: RNU4ATAC: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 23794361, 26522830, 30455926; Phenotypes: Microcephalic osteodysplastic primordial dwarfism, type I (MIM# 210710), Roifman syndrome (MIM# 616651); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2275 IFT172 Zornitza Stark Marked gene: IFT172 as ready
Mendeliome v0.2275 IFT172 Zornitza Stark Added comment: Comment when marking as ready: Established ciliopathy gene.
Mendeliome v0.2275 IFT172 Zornitza Stark Gene: ift172 has been classified as Green List (High Evidence).
Mendeliome v0.2275 IFT172 Zornitza Stark Phenotypes for gene: IFT172 were changed from to Retinitis pigmentosa 71 616394; Short-rib thoracic dysplasia 10 with or without polydactyly - 615630; Bardet-Biedl syndrome
Mendeliome v0.2274 IFT172 Zornitza Stark Publications for gene: IFT172 were set to
Mendeliome v0.2273 IFT172 Zornitza Stark Mode of inheritance for gene: IFT172 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2272 KMT2E Zornitza Stark reviewed gene: KMT2E: Rating: GREEN; Mode of pathogenicity: None; Publications: 31079897; Phenotypes: O'Donnell-Luria-Rodan syndrome, MIM# 618512; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2272 KMT2E Zornitza Stark Marked gene: KMT2E as ready
Mendeliome v0.2272 KMT2E Zornitza Stark Gene: kmt2e has been classified as Green List (High Evidence).
Mendeliome v0.2272 KMT2E Zornitza Stark Publications for gene: KMT2E were set to
Mendeliome v0.2271 KMT2E Zornitza Stark Phenotypes for gene: KMT2E were changed from to O'Donnell-Luria-Rodan syndrome, MIM# 618512
Mendeliome v0.2270 KMT2E Zornitza Stark Mode of inheritance for gene: KMT2E was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2269 MACF1 Zornitza Stark Gene: macf1 has been classified as Green List (High Evidence).
Mendeliome v0.2269 MAP1B Zornitza Stark Gene: map1b has been classified as Green List (High Evidence).
Mendeliome v0.2269 MAP1B Zornitza Stark Phenotypes for gene: MAP1B were changed from to Intellectual disability; seizures; PVNH; dysmorphic features
Mendeliome v0.2268 MAP1B Zornitza Stark Publications for gene: MAP1B were set to
Mendeliome v0.2267 MAP1B Zornitza Stark Mode of inheritance for gene: MAP1B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2266 MAP3K20 Zornitza Stark Gene: map3k20 has been classified as Green List (High Evidence).
Mendeliome v0.2266 MAP3K7 Zornitza Stark Gene: map3k7 has been classified as Green List (High Evidence).
Mendeliome v0.2266 MAP3K7 Zornitza Stark Phenotypes for gene: MAP3K7 were changed from to Cardiospondylocarpofacial syndrome 157800 AD; Frontometaphyseal dysplasia 2 617137 AD
Mendeliome v0.2265 MAP3K7 Zornitza Stark Publications for gene: MAP3K7 were set to
Mendeliome v0.2264 MAP3K7 Zornitza Stark Mode of pathogenicity for gene: MAP3K7 was changed from to Other
Mendeliome v0.2263 MAP3K7 Zornitza Stark Mode of inheritance for gene: MAP3K7 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2262 MARS2 Zornitza Stark Gene: mars2 has been classified as Green List (High Evidence).
Mendeliome v0.2262 MARS2 Zornitza Stark Phenotypes for gene: MARS2 were changed from to Combined oxidative phosphorylation deficiency 25, OMIM #616430; Spastic ataxia 3, autosomal recessive, OMIM #611390
Mendeliome v0.2261 MARS2 Zornitza Stark Publications for gene: MARS2 were set to
Mendeliome v0.2260 MARS2 Zornitza Stark Mode of inheritance for gene: MARS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2259 MARS2 Zornitza Stark edited their review of gene: MARS2: Changed rating: GREEN; Changed publications: 25754315, 16672289
Mendeliome v0.2259 MARS2 Zornitza Stark changed review comment from: 1 family with 2 sibs with combined oxidative phosphorylation deficiency-25 (with ID) with compound heterozygous mutations in the MARS2 gene. Patient fibroblasts showed decreased activities of mitochondrial complexes I and IV, consistent with a mitochondrial translation defect. Immunoblot analysis showed reduced MARS2 protein levels as well as reduced levels of selected subunits of complexes I and IV.; to: 1 family with 2 sibs with combined oxidative phosphorylation deficiency-25 (with ID) with compound heterozygous mutations in the MARS2 gene. Patient fibroblasts showed decreased activities of mitochondrial complexes I and IV, consistent with a mitochondrial translation defect. Immunoblot analysis showed reduced MARS2 protein levels as well as reduced levels of selected subunits of complexes I and IV. Spastic ataxia association: note complex chromosomal rearrangements rather than SNVs reported in group of 54 French Canadians.
Mendeliome v0.2259 MECOM Zornitza Stark Gene: mecom has been classified as Green List (High Evidence).
Mendeliome v0.2259 MECOM Zornitza Stark Phenotypes for gene: MECOM were changed from to Radioulnar synostosis with amegakaryocytic thrombocytopenia 2, MIM#616738
Mendeliome v0.2258 MECOM Zornitza Stark Publications for gene: MECOM were set to
Mendeliome v0.2257 MECOM Zornitza Stark Mode of inheritance for gene: MECOM was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2256 MED17 Zornitza Stark Gene: med17 has been classified as Green List (High Evidence).
Mendeliome v0.2256 MED17 Zornitza Stark Phenotypes for gene: MED17 were changed from to Microcephaly, postnatal progressive, with seizures and brain atrophy, MIM#613668
Mendeliome v0.2255 MED17 Zornitza Stark Publications for gene: MED17 were set to
Mendeliome v0.2254 MED17 Zornitza Stark Mode of inheritance for gene: MED17 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2253 MTHFS Zornitza Stark Marked gene: MTHFS as ready
Mendeliome v0.2253 MTHFS Zornitza Stark Gene: mthfs has been classified as Green List (High Evidence).
Mendeliome v0.2253 NEBL Zornitza Stark Gene: nebl has been classified as Green List (High Evidence).
Mendeliome v0.2253 NEBL Zornitza Stark Phenotypes for gene: NEBL were changed from to Hypertrophic cardiomyopathy; dilated cardiomyopathy
Mendeliome v0.2252 NEBL Zornitza Stark Publications for gene: NEBL were set to
Mendeliome v0.2251 NEBL Zornitza Stark Mode of inheritance for gene: NEBL was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2250 NPHP3 Zornitza Stark Gene: nphp3 has been classified as Green List (High Evidence).
Mendeliome v0.2250 NPHP3 Zornitza Stark Phenotypes for gene: NPHP3 were changed from to Meckel syndrome 7, MIM# 267010; Nephronophthisis 3, MIM# 604387; Renal-hepatic-pancreatic dysplasia 1, MIM# 208540
Mendeliome v0.2249 NPHP3 Zornitza Stark Mode of inheritance for gene: NPHP3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2248 NPHP3 Zornitza Stark reviewed gene: NPHP3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Meckel syndrome 7, MIM# 267010, Nephronophthisis 3, MIM# 604387, Renal-hepatic-pancreatic dysplasia 1, MIM# 208540; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2248 NR2E1 Zornitza Stark Gene: nr2e1 has been classified as Red List (Low Evidence).
Mendeliome v0.2248 NR2E1 Zornitza Stark Classified gene: NR2E1 as Red List (low evidence)
Mendeliome v0.2248 NR2E1 Zornitza Stark Gene: nr2e1 has been classified as Red List (Low Evidence).
Mendeliome v0.2247 NRROS Zornitza Stark Gene: nrros has been classified as Green List (High Evidence).
Mendeliome v0.2247 NUP214 Zornitza Stark Gene: nup214 has been classified as Green List (High Evidence).
Mendeliome v0.2247 NUP214 Zornitza Stark Phenotypes for gene: NUP214 were changed from epileptic encephalopathy; developmental regression; microcephaly to Encephalopathy, acute, infection-induced, susceptibility to, 9, MIM# 618426; epileptic encephalopathy; developmental regression; microcephaly
Mendeliome v0.2246 NXN Zornitza Stark Gene: nxn has been classified as Green List (High Evidence).
Mendeliome v0.2246 PAX1 Zornitza Stark changed review comment from: Note recent report of 6 individuals from three unrelated families with prominent immunological phenotype.; to: Note additional recent report of 6 individuals from three unrelated families with prominent immunological phenotype.
Mendeliome v0.2246 PAX1 Zornitza Stark reviewed gene: PAX1: Rating: GREEN; Mode of pathogenicity: None; Publications: 32111619; Phenotypes: Otofaciocervical syndrome 2, MIM#615560, Syndromic SCID; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2246 PAX1 Zornitza Stark Gene: pax1 has been classified as Green List (High Evidence).
Mendeliome v0.2246 PAX1 Zornitza Stark Phenotypes for gene: PAX1 were changed from to Otofaciocervical syndrome 2, MIM#615560; Syndromic SCID
Mendeliome v0.2245 PAX1 Zornitza Stark Publications for gene: PAX1 were set to 29681087; 28657137; 23851939
Mendeliome v0.2244 PAX1 Zornitza Stark Publications for gene: PAX1 were set to
Mendeliome v0.2243 PAX1 Zornitza Stark Mode of inheritance for gene: PAX1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2242 PDE8B Zornitza Stark Gene: pde8b has been classified as Green List (High Evidence).
Mendeliome v0.2242 PDE8B Zornitza Stark Phenotypes for gene: PDE8B were changed from to Striatal degeneration, autosomal dominant, MIM#609161
Mendeliome v0.2241 PDE8B Zornitza Stark Publications for gene: PDE8B were set to
Mendeliome v0.2240 PDE8B Zornitza Stark Mode of inheritance for gene: PDE8B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2239 ANLN Zornitza Stark Gene: anln has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2239 ANLN Zornitza Stark Phenotypes for gene: ANLN were changed from to Focal segmental glomerulosclerosis 8, OMIM #616032
Mendeliome v0.2238 ANLN Zornitza Stark Publications for gene: ANLN were set to
Mendeliome v0.2237 PIGG Zornitza Stark Gene: pigg has been classified as Green List (High Evidence).
Mendeliome v0.2237 PIGG Zornitza Stark Phenotypes for gene: PIGG were changed from to Mental retardation, autosomal recessive 53, MIM#616917
Mendeliome v0.2236 PIGG Zornitza Stark Publications for gene: PIGG were set to
Mendeliome v0.2235 PIGG Zornitza Stark Mode of inheritance for gene: PIGG was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2234 PIGU Zornitza Stark Gene: pigu has been classified as Green List (High Evidence).
Mendeliome v0.2234 PIGU Zornitza Stark Phenotypes for gene: PIGU were changed from to Glycosylphosphatidylinositol biosynthesis defect 21; OMIM #618590
Mendeliome v0.2233 PIGU Zornitza Stark Publications for gene: PIGU were set to
Mendeliome v0.2232 PIGU Zornitza Stark Mode of inheritance for gene: PIGU was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2231 PUS3 Zornitza Stark Gene: pus3 has been classified as Green List (High Evidence).
Mendeliome v0.2231 PUS3 Zornitza Stark Phenotypes for gene: PUS3 were changed from to Mental retardation, autosomal recessive 55, MIM# 617051
Mendeliome v0.2230 PUS3 Zornitza Stark Publications for gene: PUS3 were set to
Mendeliome v0.2229 PUS3 Zornitza Stark Mode of inheritance for gene: PUS3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2228 RUBCN Zornitza Stark Gene: rubcn has been classified as Green List (High Evidence).
Mendeliome v0.2228 RUBCN Zornitza Stark Phenotypes for gene: RUBCN were changed from to Spinocerebellar ataxia, autosomal recessive 15, MIM#615705
Mendeliome v0.2227 RUBCN Zornitza Stark Publications for gene: RUBCN were set to
Mendeliome v0.2226 RUBCN Zornitza Stark Mode of inheritance for gene: RUBCN was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2225 SHANK2 Zornitza Stark Added comment: Comment when marking as ready: Reports of CNVs, LoF variants, and missense variants in this gene, generally ascertained in autism cohorts. Some de novo and others inherited from parents with a range of neuropsychiatric phenotypes.
Mendeliome v0.2225 SHANK2 Zornitza Stark Gene: shank2 has been classified as Green List (High Evidence).
Mendeliome v0.2225 SHANK2 Zornitza Stark Phenotypes for gene: SHANK2 were changed from to {Autism susceptibility 17}; Autism spectrum disorder with or without intellectual disability
Mendeliome v0.2224 SHANK2 Zornitza Stark Publications for gene: SHANK2 were set to
Mendeliome v0.2223 SHANK2 Zornitza Stark Mode of inheritance for gene: SHANK2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2222 SLC26A4 Zornitza Stark Gene: slc26a4 has been classified as Green List (High Evidence).
Mendeliome v0.2222 SLC26A4 Zornitza Stark Phenotypes for gene: SLC26A4 were changed from to Deafness, autosomal recessive 4, with enlarged vestibular aqueduct 600791; Pendred syndrome 274600
Mendeliome v0.2221 SLC26A4 Zornitza Stark Publications for gene: SLC26A4 were set to
Mendeliome v0.2220 SLC26A4 Zornitza Stark Mode of inheritance for gene: SLC26A4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2219 SMPD4 Zornitza Stark Gene: smpd4 has been classified as Green List (High Evidence).
Mendeliome v0.2219 SMPD4 Zornitza Stark Phenotypes for gene: SMPD4 were changed from to Severe neurodevelopmental delay, microcephaly, arthrogryposis
Mendeliome v0.2218 SMPD4 Zornitza Stark Publications for gene: SMPD4 were set to
Mendeliome v0.2217 SMPD4 Zornitza Stark Mode of inheritance for gene: SMPD4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2216 SOX11 Zornitza Stark Gene: sox11 has been classified as Green List (High Evidence).
Mendeliome v0.2216 SOX11 Zornitza Stark Phenotypes for gene: SOX11 were changed from to Coffin-Siris syndrome 9, MIM# 615866; Congenital abnormalities of the kidneys and urinary tract
Mendeliome v0.2215 SOX11 Zornitza Stark Publications for gene: SOX11 were set to
Mendeliome v0.2214 SOX11 Zornitza Stark Mode of inheritance for gene: SOX11 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2213 SOX11 Zornitza Stark changed review comment from: Heterozygous variant in a patient with Coffin-Siris like syndrome and small kidney; but also rare variants identified in a non-syndromic CAKUT cohort with some functional data.
Sources: Expert list; to: Coffin-Siris syndrome: two individuals with de novo mono-allelic missense variants in this gene, mouse model.
CAKUT: Heterozygous variant in a patient with Coffin-Siris like syndrome and small kidney; but also rare variants identified in a non-syndromic CAKUT cohort with some functional data.
Sources: Expert list
Mendeliome v0.2213 SOX11 Zornitza Stark edited their review of gene: SOX11: Changed rating: GREEN; Changed phenotypes: Coffin-Siris syndrome 9, MIM# 615866, Congenital abnormalities of the kidneys and urinary tract
Mendeliome v0.2213 ADAM22 Zornitza Stark Gene: adam22 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2213 ADAM22 Zornitza Stark Classified gene: ADAM22 as Amber List (moderate evidence)
Mendeliome v0.2213 ADAM22 Zornitza Stark Gene: adam22 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2212 NDUFA12 Zornitza Stark Gene: ndufa12 has been classified as Red List (Low Evidence).
Mendeliome v0.2212 HOXB6 Zornitza Stark Classified gene: HOXB6 as Amber List (moderate evidence)
Mendeliome v0.2212 HOXB6 Zornitza Stark Gene: hoxb6 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2211 QRSL1 Zornitza Stark Gene: qrsl1 has been classified as Green List (High Evidence).
Mendeliome v0.2211 QRSL1 Zornitza Stark Phenotypes for gene: QRSL1 were changed from to Combined oxidative phosphorylation deficiency 40
Mendeliome v0.2210 QRSL1 Zornitza Stark Publications for gene: QRSL1 were set to
Mendeliome v0.2209 QRSL1 Zornitza Stark Mode of inheritance for gene: QRSL1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2208 QRSL1 Zornitza Stark reviewed gene: QRSL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26741492, 29440775, 30283131, 30642647; Phenotypes: Combined oxidative phosphorylation deficiency 40; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2208 PPCS Zornitza Stark Gene: ppcs has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2208 PPCS Zornitza Stark Phenotypes for gene: PPCS were changed from to Cardiomyopathy, dilated, 2C, MIM# 618189
Mendeliome v0.2207 PPCS Zornitza Stark Publications for gene: PPCS were set to
Mendeliome v0.2206 PPCS Zornitza Stark Mode of inheritance for gene: PPCS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2205 PPCS Zornitza Stark Classified gene: PPCS as Amber List (moderate evidence)
Mendeliome v0.2205 PPCS Zornitza Stark Gene: ppcs has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2204 PPCS Zornitza Stark changed review comment from: Five individuals from two unrelated families reported with missense variants. Functional studies in yeast to demonstrate impact of the variants on protein but not aimed at establishing gene-disease causation.; to: Five individuals from two unrelated families reported with missense variants. Functional studies in yeast to demonstrate impact of the variants on protein and cardiac dysfunction observed in Drosophila model.
Mendeliome v0.2204 PPCS Zornitza Stark reviewed gene: PPCS: Rating: AMBER; Mode of pathogenicity: None; Publications: 29754768; Phenotypes: Cardiomyopathy, dilated, 2C, MIM# 618189; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2204 PET117 Zornitza Stark Marked gene: PET117 as ready
Mendeliome v0.2204 PET117 Zornitza Stark Gene: pet117 has been classified as Red List (Low Evidence).
Mendeliome v0.2204 PET117 Zornitza Stark gene: PET117 was added
gene: PET117 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: PET117 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PET117 were set to 28386624
Phenotypes for gene: PET117 were set to Developmental delay; Regression; Complex IV deficiency
Review for gene: PET117 was set to RED
Added comment: Two siblings reported, some functional data. PET117 postulated to be a Complex IV assembly factor.
Sources: Expert list
Mendeliome v0.2203 NUP188 Zornitza Stark Phenotypes for gene: NUP188 were changed from microcephaly; ID; cataract to microcephaly; ID; cataract; structural brain abnormalities; hypoventilation
Mendeliome v0.2202 NUP188 Zornitza Stark Publications for gene: NUP188 were set to https://doi.org/10.1159/000504818; 28726809
Mendeliome v0.2201 NUP188 Zornitza Stark Classified gene: NUP188 as Green List (high evidence)
Mendeliome v0.2201 NUP188 Zornitza Stark Gene: nup188 has been classified as Green List (High Evidence).
Mendeliome v0.2200 NUP188 Zornitza Stark edited their review of gene: NUP188: Added comment: Additional 6 unrelated individuals with bi-allelic LoF variants reported, promoted to Green.; Changed rating: GREEN; Changed publications: 32021605, 28726809, 32275884; Changed phenotypes: microcephaly, ID, cataract, structural brain abnormalities, hypoventilation
Mendeliome v0.2200 TMTC2 Zornitza Stark Marked gene: TMTC2 as ready
Mendeliome v0.2200 TMTC2 Zornitza Stark Gene: tmtc2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2200 TMTC2 Zornitza Stark Phenotypes for gene: TMTC2 were changed from to Deafness
Mendeliome v0.2199 TMTC2 Zornitza Stark Publications for gene: TMTC2 were set to
Mendeliome v0.2198 TBCD Zornitza Stark Marked gene: TBCD as ready
Mendeliome v0.2198 TBCD Zornitza Stark Gene: tbcd has been classified as Green List (High Evidence).
Mendeliome v0.2198 TBCD Zornitza Stark Phenotypes for gene: TBCD were changed from to Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum, MIM#617193
Mendeliome v0.2197 TBCD Zornitza Stark Publications for gene: TBCD were set to
Mendeliome v0.2196 TBCD Zornitza Stark Mode of inheritance for gene: TBCD was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2195 TMTC2 Zornitza Stark Mode of inheritance for gene: TMTC2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2194 TMTC2 Zornitza Stark Classified gene: TMTC2 as Amber List (moderate evidence)
Mendeliome v0.2194 TMTC2 Zornitza Stark Gene: tmtc2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2193 UMOD Zornitza Stark Gene: umod has been classified as Green List (High Evidence).
Mendeliome v0.2193 TOR1AIP1 Zornitza Stark Marked gene: TOR1AIP1 as ready
Mendeliome v0.2193 TOR1AIP1 Zornitza Stark Gene: tor1aip1 has been classified as Green List (High Evidence).
Mendeliome v0.2193 UPK3A Zornitza Stark Gene: upk3a has been classified as Red List (Low Evidence).
Mendeliome v0.2193 UMOD Zornitza Stark Phenotypes for gene: UMOD were changed from to Glomerulocystic kidney disease with hyperuricemia and isosthenuria 609886; Hyperuricemic nephropathy, familial juvenile 1 162000; Medullary cystic kidney disease 2 603860
Mendeliome v0.2192 UMOD Zornitza Stark reviewed gene: UMOD: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Glomerulocystic kidney disease with hyperuricemia and isosthenuria 609886, Hyperuricemic nephropathy, familial juvenile 1 162000, Medullary cystic kidney disease 2 603860; Mode of inheritance: None
Mendeliome v0.2192 UPK3A Zornitza Stark Phenotypes for gene: UPK3A were changed from to CAKUT
Mendeliome v0.2191 UPK3A Zornitza Stark Publications for gene: UPK3A were set to
Mendeliome v0.2190 UPK3A Zornitza Stark Classified gene: UPK3A as Red List (low evidence)
Mendeliome v0.2190 UPK3A Zornitza Stark Gene: upk3a has been classified as Red List (Low Evidence).
Mendeliome v0.2189 VARS Zornitza Stark Gene: vars has been classified as Green List (High Evidence).
Mendeliome v0.2189 VARS Zornitza Stark Phenotypes for gene: VARS were changed from to Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy; OMIM #617802
Mendeliome v0.2188 WNT10A Zornitza Stark Marked gene: WNT10A as ready
Mendeliome v0.2188 WNT10A Zornitza Stark Gene: wnt10a has been classified as Green List (High Evidence).
Mendeliome v0.2188 WNT10A Zornitza Stark Phenotypes for gene: WNT10A were changed from to Odontoonychodermal dysplasia; Schopf-Schulz-Passarge syndrome; Tooth agenesis, selective, 4
Mendeliome v0.2187 WNT10A Zornitza Stark Publications for gene: WNT10A were set to
Mendeliome v0.2186 WNT10A Zornitza Stark Mode of inheritance for gene: WNT10A was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.2185 ZNF592 Zornitza Stark Gene: znf592 has been classified as Red List (Low Evidence).
Mendeliome v0.2185 ZNF592 Zornitza Stark Phenotypes for gene: ZNF592 were changed from to SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 5
Mendeliome v0.2184 ZNF592 Zornitza Stark Mode of inheritance for gene: ZNF592 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2183 ZNF592 Zornitza Stark Publications for gene: ZNF592 were set to
Mendeliome v0.2182 ZNF592 Zornitza Stark Classified gene: ZNF592 as Red List (low evidence)
Mendeliome v0.2182 ZNF592 Zornitza Stark Gene: znf592 has been classified as Red List (Low Evidence).
Mendeliome v0.2181 CLIC5 Zornitza Stark Gene: clic5 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2181 GNB2 Zornitza Stark Gene: gnb2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2181 MIR96 Zornitza Stark Gene: mir96 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2181 MYL1 Zornitza Stark Gene: myl1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2181 APOL1 Zornitza Stark Gene: apol1 has been classified as Red List (Low Evidence).
Mendeliome v0.2181 ARHGEF6 Zornitza Stark Gene: arhgef6 has been classified as Red List (Low Evidence).
Mendeliome v0.2181 CEP85L Zornitza Stark Gene: cep85l has been classified as Green List (High Evidence).
Mendeliome v0.2181 CEP85L Zornitza Stark Classified gene: CEP85L as Green List (high evidence)
Mendeliome v0.2181 CEP85L Zornitza Stark Gene: cep85l has been classified as Green List (High Evidence).
Mendeliome v0.2180 MIEF2 Zornitza Stark Gene: mief2 has been classified as Red List (Low Evidence).
Mendeliome v0.2180 POLE2 Zornitza Stark Gene: pole2 has been classified as Red List (Low Evidence).
Mendeliome v0.2180 PTCD1 Zornitza Stark Marked gene: PTCD1 as ready
Mendeliome v0.2180 PTCD1 Zornitza Stark Gene: ptcd1 has been classified as Red List (Low Evidence).
Mendeliome v0.2180 TFAM Zornitza Stark Marked gene: TFAM as ready
Mendeliome v0.2180 TFAM Zornitza Stark Gene: tfam has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2180 TFAM Zornitza Stark Classified gene: TFAM as Amber List (moderate evidence)
Mendeliome v0.2180 TFAM Zornitza Stark Gene: tfam has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2179 NME3 Zornitza Stark Gene: nme3 has been classified as Red List (Low Evidence).
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 v0.2178 MRPS28 Zornitza Stark Gene: mrps28 has been classified as Red List (Low Evidence).
Mendeliome v0.2178 MRPS28 Zornitza Stark gene: MRPS28 was added
gene: MRPS28 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: MRPS28 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MRPS28 were set to 30566640
Phenotypes for gene: MRPS28 were set to Intrauterine growth retardation; developmental delay; dysmorphism
Review for gene: MRPS28 was set to RED
Added comment: Single individual reported.
Sources: Expert list
Mendeliome v0.2177 MRPS25 Zornitza Stark Gene: mrps25 has been classified as Red List (Low Evidence).
Mendeliome v0.2177 MRPS25 Zornitza Stark gene: MRPS25 was added
gene: MRPS25 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: MRPS25 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MRPS25 were set to 31039582
Phenotypes for gene: MRPS25 were set to Dyskinetic cerebral palsy; Mitochondrial myopathy; Partial agenesis of the corpus callosum
Review for gene: MRPS25 was set to RED
Added comment: Single individual reported.
Sources: Expert list
Mendeliome v0.2176 MRPS23 Zornitza Stark Phenotypes for gene: MRPS23 were changed from Hepatic disease; Combined respiratory chain complex deficiencies to Hepatic disease; Combined respiratory chain complex deficienciesHepatic disease; Combined respiratory chain complex deficiencies; Cardiomyopathy; Tubulopathy; Lactic acidosis; Structural brain abnormalities
Mendeliome v0.2175 MRPS23 Zornitza Stark Publications for gene: MRPS23 were set to 26741492
Mendeliome v0.2174 MRPS23 Zornitza Stark Classified gene: MRPS23 as Green List (high evidence)
Mendeliome v0.2174 MRPS23 Zornitza Stark Gene: mrps23 has been classified as Green List (High Evidence).
Mendeliome v0.2173 MRPS23 Zornitza Stark Deleted their comment
Mendeliome v0.2173 MRPS23 Zornitza Stark edited their review of gene: MRPS23: Added comment: Four families reported.; Changed rating: GREEN; Changed publications: 26741492, 17873122, 25663021, 28752220; Changed phenotypes: Hepatic disease, Combined respiratory chain complex deficiencies, Cardiomyopathy, Tubulopathy, Lactic acidosis, Structural brain abnormalities
Mendeliome v0.2173 MIEF2 Zornitza Stark gene: MIEF2 was added
gene: MIEF2 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: MIEF2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MIEF2 were set to 29361167
Phenotypes for gene: MIEF2 were set to Progressive muscle weakness; Exercise intolerance; Ragged red and COX negative fibres; Complex I and IV deficiency
Review for gene: MIEF2 was set to RED
Added comment: Single individual reported.
Sources: Expert list
Mendeliome v0.2172 ERAL1 Zornitza Stark Gene: eral1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2172 ERAL1 Zornitza Stark Classified gene: ERAL1 as Amber List (moderate evidence)
Mendeliome v0.2172 ERAL1 Zornitza Stark Gene: eral1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2171 ERAL1 Zornitza Stark gene: ERAL1 was added
gene: ERAL1 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: ERAL1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ERAL1 were set to 28449065
Phenotypes for gene: ERAL1 were set to Perrault syndrome 6, MIM# 617565
Review for gene: ERAL1 was set to AMBER
Added comment: Three individuals from same small geographical location with homozygous missense variant in this gene, functional data.
Sources: Expert list
Mendeliome v0.2170 COX5A Zornitza Stark Gene: cox5a has been classified as Red List (Low Evidence).
Mendeliome v0.2170 COX5A Zornitza Stark gene: COX5A was added
gene: COX5A was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: COX5A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COX5A were set to 2824752
Phenotypes for gene: COX5A were set to pulmonary arterial hypertension; lactic acidemia; failure to thrive; isolated complex IV deficiency
Review for gene: COX5A was set to RED
Added comment: Single family reported.
Sources: Expert list
Mendeliome v0.2169 TRAF3IP2 Zornitza Stark Marked gene: TRAF3IP2 as ready
Mendeliome v0.2169 TRAF3IP2 Zornitza Stark Gene: traf3ip2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2169 TRAF3IP2 Zornitza Stark Phenotypes for gene: TRAF3IP2 were changed from to Candidiasis, familial, 8, MIM# 615527
Mendeliome v0.2168 TRAF3IP2 Zornitza Stark Publications for gene: TRAF3IP2 were set to
Mendeliome v0.2167 TRAF3IP2 Zornitza Stark Mode of inheritance for gene: TRAF3IP2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2166 TRAF3IP2 Zornitza Stark Classified gene: TRAF3IP2 as Amber List (moderate evidence)
Mendeliome v0.2166 TRAF3IP2 Zornitza Stark Gene: traf3ip2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2165 TRAF3IP2 Zornitza Stark reviewed gene: TRAF3IP2: Rating: AMBER; Mode of pathogenicity: None; Publications: 24120361, 31292894, 20660351; Phenotypes: Candidiasis, familial, 8, MIM# 615527; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2165 TRAF3 Zornitza Stark Marked gene: TRAF3 as ready
Mendeliome v0.2165 TRAF3 Zornitza Stark Gene: traf3 has been classified as Red List (Low Evidence).
Mendeliome v0.2165 TRAF3 Zornitza Stark Phenotypes for gene: TRAF3 were changed from to {?Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 5}, MIM# 614849
Mendeliome v0.2164 TRAF3 Zornitza Stark Publications for gene: TRAF3 were set to
Mendeliome v0.2163 TRAF3 Zornitza Stark Mode of inheritance for gene: TRAF3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2162 TRAF3 Zornitza Stark Classified gene: TRAF3 as Red List (low evidence)
Mendeliome v0.2162 TRAF3 Zornitza Stark Gene: traf3 has been classified as Red List (Low Evidence).
Mendeliome v0.2161 TRAF3 Zornitza Stark reviewed gene: TRAF3: Rating: RED; Mode of pathogenicity: None; Publications: 20832341; Phenotypes: {?Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 5}, MIM# 614849; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2161 TNFSF12 Zornitza Stark Marked gene: TNFSF12 as ready
Mendeliome v0.2161 TNFSF12 Zornitza Stark Gene: tnfsf12 has been classified as Red List (Low Evidence).
Mendeliome v0.2161 TNFSF12 Zornitza Stark Phenotypes for gene: TNFSF12 were changed from to Recurrent infections, poor antibody responses, decreased immunoglobulins
Mendeliome v0.2160 TNFSF12 Zornitza Stark Publications for gene: TNFSF12 were set to
Mendeliome v0.2159 TNFSF12 Zornitza Stark Mode of inheritance for gene: TNFSF12 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2158 TNFSF12 Zornitza Stark Classified gene: TNFSF12 as Red List (low evidence)
Mendeliome v0.2158 TNFSF12 Zornitza Stark Gene: tnfsf12 has been classified as Red List (Low Evidence).
Mendeliome v0.2157 TNFSF12 Zornitza Stark reviewed gene: TNFSF12: Rating: RED; Mode of pathogenicity: None; Publications: 23493554; Phenotypes: Recurrent infections, poor antibody responses, decreased immunoglobulins; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2157 TNFRSF4 Zornitza Stark Marked gene: TNFRSF4 as ready
Mendeliome v0.2157 TNFRSF4 Zornitza Stark Gene: tnfrsf4 has been classified as Red List (Low Evidence).
Mendeliome v0.2157 TNFRSF4 Zornitza Stark Phenotypes for gene: TNFRSF4 were changed from to Immunodeficiency 16, MIM# 615593
Mendeliome v0.2156 TNFRSF4 Zornitza Stark Publications for gene: TNFRSF4 were set to
Mendeliome v0.2155 TNFRSF4 Zornitza Stark Mode of inheritance for gene: TNFRSF4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2154 TNFRSF4 Zornitza Stark Classified gene: TNFRSF4 as Red List (low evidence)
Mendeliome v0.2154 TNFRSF4 Zornitza Stark Gene: tnfrsf4 has been classified as Red List (Low Evidence).
Mendeliome v0.2153 TNFRSF4 Zornitza Stark reviewed gene: TNFRSF4: Rating: RED; Mode of pathogenicity: None; Publications: 23897980; Phenotypes: Immunodeficiency 16, MIM# 615593; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2153 TNFRSF13C Zornitza Stark Marked gene: TNFRSF13C as ready
Mendeliome v0.2153 TNFRSF13C Zornitza Stark Gene: tnfrsf13c has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2153 TNFRSF13C Zornitza Stark Phenotypes for gene: TNFRSF13C were changed from to Immunodeficiency, common variable, 4, MIM# 613494
Mendeliome v0.2152 TNFRSF13C Zornitza Stark Publications for gene: TNFRSF13C were set to
Mendeliome v0.2151 TNFRSF13C Zornitza Stark Mode of inheritance for gene: TNFRSF13C was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2150 TNFRSF13C Zornitza Stark Classified gene: TNFRSF13C as Amber List (moderate evidence)
Mendeliome v0.2150 TNFRSF13C Zornitza Stark Gene: tnfrsf13c has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2149 TNFRSF13C Zornitza Stark reviewed gene: TNFRSF13C: Rating: AMBER; Mode of pathogenicity: None; Publications: 19666484, 26613719; Phenotypes: Immunodeficiency, common variable, 4, MIM# 613494; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2149 TNFRSF13B Zornitza Stark Marked gene: TNFRSF13B as ready
Mendeliome v0.2149 TNFRSF13B Zornitza Stark Gene: tnfrsf13b has been classified as Green List (High Evidence).
Mendeliome v0.2149 TNFRSF13B Zornitza Stark Phenotypes for gene: TNFRSF13B were changed from to Immunodeficiency, common variable, 2, MIM# 240500
Mendeliome v0.2148 TNFRSF13B Zornitza Stark Publications for gene: TNFRSF13B were set to
Mendeliome v0.2147 TNFRSF13B Zornitza Stark Mode of inheritance for gene: TNFRSF13B was changed from Unknown to Other
Mendeliome v0.2146 TNFRSF13B Zornitza Stark reviewed gene: TNFRSF13B: Rating: GREEN; Mode of pathogenicity: None; Publications: 17392798, 16007086, 18981294, 16007087; Phenotypes: Immunodeficiency, common variable, 2, MIM# 240500; Mode of inheritance: Other
Mendeliome v0.2146 THBD Zornitza Stark Marked gene: THBD as ready
Mendeliome v0.2146 THBD Zornitza Stark Gene: thbd has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2146 THBD Zornitza Stark Phenotypes for gene: THBD were changed from to {Hemolytic uremic syndrome, atypical, susceptibility to, 6}, MIM# 612926
Mendeliome v0.2145 THBD Zornitza Stark Publications for gene: THBD were set to
Mendeliome v0.2144 THBD Zornitza Stark Mode of inheritance for gene: THBD was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2143 THBD Zornitza Stark Classified gene: THBD as Amber List (moderate evidence)
Mendeliome v0.2143 THBD Zornitza Stark Gene: thbd has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2142 THBD Zornitza Stark reviewed gene: THBD: Rating: AMBER; Mode of pathogenicity: None; Publications: 29500241, 19625716; Phenotypes: {Hemolytic uremic syndrome, atypical, susceptibility to, 6}, MIM# 612926; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2142 TAPBP Zornitza Stark Marked gene: TAPBP as ready
Mendeliome v0.2142 TAPBP Zornitza Stark Gene: tapbp has been classified as Red List (Low Evidence).
Mendeliome v0.2142 TAPBP Zornitza Stark Phenotypes for gene: TAPBP were changed from to Bare lymphocyte syndrome, type I, MIM# 604571
Mendeliome v0.2141 TAPBP Zornitza Stark Mode of inheritance for gene: TAPBP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2140 NXN Zornitza Stark Phenotypes for gene: NXN were changed from to Robinow syndrome, autosomal recessive 2 618529
Mendeliome v0.2139 NXN Zornitza Stark Publications for gene: NXN were set to
Mendeliome v0.2138 NXN Zornitza Stark Mode of inheritance for gene: NXN was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2137 NXN Zornitza Stark reviewed gene: NXN: Rating: GREEN; Mode of pathogenicity: None; Publications: 29276006; Phenotypes: Robinow syndrome, autosomal recessive 2 618529; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2137 TAPBP Zornitza Stark Publications for gene: TAPBP were set to
Mendeliome v0.2136 TAPBP Zornitza Stark Classified gene: TAPBP as Red List (low evidence)
Mendeliome v0.2136 TAPBP Zornitza Stark Gene: tapbp has been classified as Red List (Low Evidence).
Mendeliome v0.2136 TAPBP Zornitza Stark Classified gene: TAPBP as Red List (low evidence)
Mendeliome v0.2136 TAPBP Zornitza Stark Gene: tapbp has been classified as Red List (Low Evidence).
Mendeliome v0.2135 TAPBP Zornitza Stark reviewed gene: TAPBP: Rating: RED; Mode of pathogenicity: None; Publications: 12149238; Phenotypes: Bare lymphocyte syndrome, type I, MIM# 604571; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2135 SEMA3E Zornitza Stark Gene: sema3e has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2135 SEMA3E Zornitza Stark Phenotypes for gene: SEMA3E were changed from to CHARGE syndrome, MIM#214800
Mendeliome v0.2134 SEMA3E Zornitza Stark Publications for gene: SEMA3E were set to
Mendeliome v0.2133 SEMA3E Zornitza Stark Mode of inheritance for gene: SEMA3E was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2133 SEMA3E Zornitza Stark Classified gene: SEMA3E as Amber List (moderate evidence)
Mendeliome v0.2133 SEMA3E Zornitza Stark Gene: sema3e has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2132 SEMA3E Zornitza Stark reviewed gene: SEMA3E: Rating: AMBER; Mode of pathogenicity: None; Publications: 15235037, 31691538, 31464029; Phenotypes: CHARGE syndrome, MIM#214800; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2132 RNF31 Zornitza Stark Gene: rnf31 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2132 RNF31 Zornitza Stark Phenotypes for gene: RNF31 were changed from to Immune deficiency; Autoinflammation
Mendeliome v0.2131 RNF31 Zornitza Stark Publications for gene: RNF31 were set to
Mendeliome v0.2130 RNF31 Zornitza Stark Mode of inheritance for gene: RNF31 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2129 RNF31 Zornitza Stark Classified gene: RNF31 as Amber List (moderate evidence)
Mendeliome v0.2129 RNF31 Zornitza Stark Gene: rnf31 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2128 RNF31 Zornitza Stark reviewed gene: RNF31: Rating: AMBER; Mode of pathogenicity: None; Publications: 26008899, 30936877; Phenotypes: Immune deficiency, Autoinflammation; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2128 RHOH Zornitza Stark Gene: rhoh has been classified as Red List (Low Evidence).
Mendeliome v0.2128 RHOH Zornitza Stark Phenotypes for gene: RHOH were changed from to {?Epidermodysplasia verruciformis, susceptibility to, 4}, MIM# 618307
Mendeliome v0.2127 RHOH Zornitza Stark Publications for gene: RHOH were set to
Mendeliome v0.2126 RHOH Zornitza Stark Mode of inheritance for gene: RHOH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2125 RHOH Zornitza Stark Classified gene: RHOH as Red List (low evidence)
Mendeliome v0.2125 RHOH Zornitza Stark Gene: rhoh has been classified as Red List (Low Evidence).
Mendeliome v0.2124 RHOH Zornitza Stark reviewed gene: RHOH: Rating: RED; Mode of pathogenicity: None; Publications: 22850876, 27574848; Phenotypes: {?Epidermodysplasia verruciformis, susceptibility to, 4}, MIM# 618307; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2124 PSMB9 Zornitza Stark Gene: psmb9 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2124 PSMB9 Zornitza Stark Phenotypes for gene: PSMB9 were changed from to Proteasome-associated autoinflammatory syndrome 3, digenic, MIM# 617591
Mendeliome v0.2123 PSMB9 Zornitza Stark Publications for gene: PSMB9 were set to
Mendeliome v0.2122 PSMB9 Zornitza Stark Mode of inheritance for gene: PSMB9 was changed from Unknown to Other
Mendeliome v0.2121 PSMB9 Zornitza Stark Classified gene: PSMB9 as Amber List (moderate evidence)
Mendeliome v0.2121 PSMB9 Zornitza Stark Gene: psmb9 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2120 PSMB9 Zornitza Stark reviewed gene: PSMB9: Rating: AMBER; Mode of pathogenicity: None; Publications: 26524591; Phenotypes: Proteasome-associated autoinflammatory syndrome 3, digenic, MIM# 617591; Mode of inheritance: Other
Mendeliome v0.2120 PSMB4 Zornitza Stark Gene: psmb4 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2120 PSMB4 Zornitza Stark Phenotypes for gene: PSMB4 were changed from to Proteasome-associated autoinflammatory syndrome 3 and digenic forms, MIM# 617591
Mendeliome v0.2119 PSMB4 Zornitza Stark Publications for gene: PSMB4 were set to
Mendeliome v0.2118 PSMB4 Zornitza Stark Mode of inheritance for gene: PSMB4 was changed from Unknown to Other
Mendeliome v0.2117 PSMB4 Zornitza Stark Classified gene: PSMB4 as Amber List (moderate evidence)
Mendeliome v0.2117 PSMB4 Zornitza Stark Gene: psmb4 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2116 PSMB4 Zornitza Stark reviewed gene: PSMB4: Rating: AMBER; Mode of pathogenicity: None; Publications: 26524591; Phenotypes: Proteasome-associated autoinflammatory syndrome 3 and digenic forms, MIM# 617591; Mode of inheritance: Other
Mendeliome v0.2116 PSMA3 Zornitza Stark Gene: psma3 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2116 PSMA3 Zornitza Stark Publications for gene: PSMA3 were set to
Mendeliome v0.2115 PSMA3 Zornitza Stark Phenotypes for gene: PSMA3 were changed from to Proteasome-associated autoinflammatory syndrome 1 and digenic forms, MIM#256040
Mendeliome v0.2114 PSMA3 Zornitza Stark Mode of inheritance for gene: PSMA3 was changed from Unknown to Other
Mendeliome v0.2113 PSMA3 Zornitza Stark Classified gene: PSMA3 as Amber List (moderate evidence)
Mendeliome v0.2113 PSMA3 Zornitza Stark Gene: psma3 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2112 PSMA3 Zornitza Stark reviewed gene: PSMA3: Rating: AMBER; Mode of pathogenicity: None; Publications: 26524591; Phenotypes: Proteasome-associated autoinflammatory syndrome 1 and digenic forms, MIM#256040; Mode of inheritance: Other
Mendeliome v0.2112 NFKBID Zornitza Stark Gene: nfkbid has been classified as Red List (Low Evidence).
Mendeliome v0.2112 NFKBID Zornitza Stark Publications for gene: NFKBID were set to
Mendeliome v0.2111 NFKBID Zornitza Stark Classified gene: NFKBID as Red List (low evidence)
Mendeliome v0.2111 NFKBID Zornitza Stark Gene: nfkbid has been classified as Red List (Low Evidence).
Mendeliome v0.2110 NFKBID Zornitza Stark reviewed gene: NFKBID: Rating: RED; Mode of pathogenicity: None; Publications: 26973645, 25347393, 22761313; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.2110 NFAT5 Zornitza Stark Marked gene: NFAT5 as ready
Mendeliome v0.2110 NFAT5 Zornitza Stark Gene: nfat5 has been classified as Red List (Low Evidence).
Mendeliome v0.2110 NFAT5 Zornitza Stark Phenotypes for gene: NFAT5 were changed from to Recurrent infections; Autoimmune enterocolopathy
Mendeliome v0.2109 NFAT5 Zornitza Stark Publications for gene: NFAT5 were set to
Mendeliome v0.2108 NFAT5 Zornitza Stark Mode of inheritance for gene: NFAT5 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2107 NFAT5 Zornitza Stark Classified gene: NFAT5 as Red List (low evidence)
Mendeliome v0.2107 NFAT5 Zornitza Stark Gene: nfat5 has been classified as Red List (Low Evidence).
Mendeliome v0.2106 NFAT5 Zornitza Stark reviewed gene: NFAT5: Rating: RED; Mode of pathogenicity: None; Publications: 25667416; Phenotypes: Recurrent infections, Autoimmune enterocolopathy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2106 MS4A1 Zornitza Stark Gene: ms4a1 has been classified as Red List (Low Evidence).
Mendeliome v0.2106 MS4A1 Zornitza Stark Phenotypes for gene: MS4A1 were changed from to Immunodeficiency, common variable, 5, MIM# 613495
Mendeliome v0.2105 MS4A1 Zornitza Stark Publications for gene: MS4A1 were set to
Mendeliome v0.2104 MS4A1 Zornitza Stark Mode of inheritance for gene: MS4A1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2103 MS4A1 Zornitza Stark Classified gene: MS4A1 as Red List (low evidence)
Mendeliome v0.2103 MS4A1 Zornitza Stark Gene: ms4a1 has been classified as Red List (Low Evidence).
Mendeliome v0.2103 MS4A1 Zornitza Stark Classified gene: MS4A1 as Red List (low evidence)
Mendeliome v0.2103 MS4A1 Zornitza Stark Gene: ms4a1 has been classified as Red List (Low Evidence).
Mendeliome v0.2102 MS4A1 Zornitza Stark reviewed gene: MS4A1: Rating: RED; Mode of pathogenicity: None; Publications: 20038800; Phenotypes: Immunodeficiency, common variable, 5, MIM# 613495; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2102 MASP2 Zornitza Stark Gene: masp2 has been classified as Red List (Low Evidence).
Mendeliome v0.2102 MASP2 Zornitza Stark Phenotypes for gene: MASP2 were changed from to MASP2 deficiency, MIM# 613791
Mendeliome v0.2101 MASP2 Zornitza Stark Mode of inheritance for gene: MASP2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2100 MASP2 Zornitza Stark Classified gene: MASP2 as Red List (low evidence)
Mendeliome v0.2100 MASP2 Zornitza Stark Gene: masp2 has been classified as Red List (Low Evidence).
Mendeliome v0.2099 MASP2 Zornitza Stark reviewed gene: MASP2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: MASP2 deficiency, MIM# 613791; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2099 ITGAM Zornitza Stark Marked gene: ITGAM as ready
Mendeliome v0.2099 ITGAM Zornitza Stark Gene: itgam has been classified as Red List (Low Evidence).
Mendeliome v0.2099 ITGAM Zornitza Stark Classified gene: ITGAM as Red List (low evidence)
Mendeliome v0.2099 ITGAM Zornitza Stark Gene: itgam has been classified as Red List (Low Evidence).
Mendeliome v0.2098 ITGAM Zornitza Stark reviewed gene: ITGAM: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.2098 IRF7 Zornitza Stark Gene: irf7 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2098 IRF7 Zornitza Stark Phenotypes for gene: IRF7 were changed from to Immunodeficiency 39, MIM# 616345
Mendeliome v0.2097 IRF7 Zornitza Stark Publications for gene: IRF7 were set to
Mendeliome v0.2096 IRF7 Zornitza Stark Mode of inheritance for gene: IRF7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2095 IRF7 Zornitza Stark Classified gene: IRF7 as Amber List (moderate evidence)
Mendeliome v0.2095 IRF7 Zornitza Stark Gene: irf7 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2094 IRF7 Zornitza Stark reviewed gene: IRF7: Rating: AMBER; Mode of pathogenicity: None; Publications: 25814066, 15800576; Phenotypes: Immunodeficiency 39, MIM# 616345; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2094 IL21 Zornitza Stark Gene: il21 has been classified as Red List (Low Evidence).
Mendeliome v0.2094 IL21 Zornitza Stark Phenotypes for gene: IL21 were changed from to Immunodeficiency, common variable, 11, MIM# 615767
Mendeliome v0.2093 IL21 Zornitza Stark Publications for gene: IL21 were set to
Mendeliome v0.2092 IL21 Zornitza Stark Mode of inheritance for gene: IL21 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2091 IL21 Zornitza Stark Classified gene: IL21 as Red List (low evidence)
Mendeliome v0.2091 IL21 Zornitza Stark Gene: il21 has been classified as Red List (Low Evidence).
Mendeliome v0.2090 IL21 Zornitza Stark reviewed gene: IL21: Rating: RED; Mode of pathogenicity: None; Publications: 24746753; Phenotypes: Immunodeficiency, common variable, 11, MIM# 615767; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2090 IL17F Zornitza Stark Gene: il17f has been classified as Red List (Low Evidence).
Mendeliome v0.2090 IL17F Zornitza Stark Phenotypes for gene: IL17F were changed from to Candidiasis, familial, 6, autosomal dominant, MIM# 613956
Mendeliome v0.2089 IL17F Zornitza Stark Publications for gene: IL17F were set to
Mendeliome v0.2088 IL17F Zornitza Stark Mode of inheritance for gene: IL17F was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2087 IL17F Zornitza Stark Classified gene: IL17F as Red List (low evidence)
Mendeliome v0.2087 IL17F Zornitza Stark Gene: il17f has been classified as Red List (Low Evidence).
Mendeliome v0.2086 IL17F Zornitza Stark reviewed gene: IL17F: Rating: RED; Mode of pathogenicity: None; Publications: 21350122; Phenotypes: Candidiasis, familial, 6, autosomal dominant, MIM# 613956; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2086 FPR1 Zornitza Stark Gene: fpr1 has been classified as Red List (Low Evidence).
Mendeliome v0.2086 FPR1 Zornitza Stark Phenotypes for gene: FPR1 were changed from to Periodontitis
Mendeliome v0.2085 FPR1 Zornitza Stark Publications for gene: FPR1 were set to
Mendeliome v0.2084 FPR1 Zornitza Stark Classified gene: FPR1 as Red List (low evidence)
Mendeliome v0.2084 FPR1 Zornitza Stark Gene: fpr1 has been classified as Red List (Low Evidence).
Mendeliome v0.2083 FPR1 Zornitza Stark reviewed gene: FPR1: Rating: RED; Mode of pathogenicity: None; Publications: 29105764, 28371599; Phenotypes: Periodontitis; Mode of inheritance: None
Mendeliome v0.2083 FCN3 Zornitza Stark Gene: fcn3 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2083 FCN3 Zornitza Stark Phenotypes for gene: FCN3 were changed from to Immunodeficiency due to ficolin 3 deficiency, MIM# 613860
Mendeliome v0.2082 FCN3 Zornitza Stark Publications for gene: FCN3 were set to
Mendeliome v0.2081 FCN3 Zornitza Stark Mode of inheritance for gene: FCN3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2080 FCN3 Zornitza Stark Classified gene: FCN3 as Amber List (moderate evidence)
Mendeliome v0.2080 FCN3 Zornitza Stark Gene: fcn3 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2079 FCN3 Zornitza Stark reviewed gene: FCN3: Rating: AMBER; Mode of pathogenicity: None; Publications: 25662573, 22226667, 19535802, 20971976; Phenotypes: Immunodeficiency due to ficolin 3 deficiency, MIM# 613860; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2079 FCGR3A Zornitza Stark Gene: fcgr3a has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2079 FCGR3A Zornitza Stark Phenotypes for gene: FCGR3A were changed from to Immunodeficiency 20, MIM# 615707
Mendeliome v0.2078 FCGR3A Zornitza Stark Publications for gene: FCGR3A were set to
Mendeliome v0.2077 FCGR3A Zornitza Stark Mode of inheritance for gene: FCGR3A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2076 FCGR3A Zornitza Stark Classified gene: FCGR3A as Amber List (moderate evidence)
Mendeliome v0.2076 FCGR3A Zornitza Stark Gene: fcgr3a has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2075 FCGR3A Zornitza Stark reviewed gene: FCGR3A: Rating: AMBER; Mode of pathogenicity: None; Publications: 8874200, 23006327, 8608639; Phenotypes: Immunodeficiency 20, MIM# 615707; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2075 CR2 Zornitza Stark Gene: cr2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2075 CR2 Zornitza Stark Publications for gene: CR2 were set to
Mendeliome v0.2074 CR2 Zornitza Stark Phenotypes for gene: CR2 were changed from to Immunodeficiency, common variable, 7, MIM# 614699
Mendeliome v0.2073 CR2 Zornitza Stark Mode of inheritance for gene: CR2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2072 CR2 Zornitza Stark Classified gene: CR2 as Amber List (moderate evidence)
Mendeliome v0.2072 CR2 Zornitza Stark Gene: cr2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2071 CR2 Zornitza Stark reviewed gene: CR2: Rating: AMBER; Mode of pathogenicity: None; Publications: 22035880, 26325596; Phenotypes: Immunodeficiency, common variable, 7, MIM# 614699; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2071 CFHR4 Zornitza Stark Gene: cfhr4 has been classified as Red List (Low Evidence).
Mendeliome v0.2071 CFHR4 Zornitza Stark Classified gene: CFHR4 as Red List (low evidence)
Mendeliome v0.2071 CFHR4 Zornitza Stark Gene: cfhr4 has been classified as Red List (Low Evidence).
Mendeliome v0.2070 CFHR4 Zornitza Stark reviewed gene: CFHR4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.2070 CFHR2 Zornitza Stark Gene: cfhr2 has been classified as Green List (High Evidence).
Mendeliome v0.2070 CFHR2 Zornitza Stark Phenotypes for gene: CFHR2 were changed from to C3 glomerulopathy; C3G; Immune complex MPGN; IC-MPGN
Mendeliome v0.2069 CFHR2 Zornitza Stark Publications for gene: CFHR2 were set to
Mendeliome v0.2068 CFHR2 Zornitza Stark Mode of inheritance for gene: CFHR2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.2067 CFHR2 Zornitza Stark Tag SV/CNV tag was added to gene: CFHR2.
Mendeliome v0.2067 CFHR2 Zornitza Stark reviewed gene: CFHR2: Rating: GREEN; Mode of pathogenicity: None; Publications: 24334459, 23728178, 20800271; Phenotypes: C3 glomerulopathy, C3G, Immune complex MPGN, IC-MPGN; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.2067 CFB Zornitza Stark Phenotypes for gene: CFB were changed from Complement factor B deficiency, MIM# 615561 to Complement factor B deficiency, MIM# 615561; {Hemolytic uremic syndrome, atypical, susceptibility to, 4} 612924
Mendeliome v0.2066 CFB Zornitza Stark Publications for gene: CFB were set to 24152280
Mendeliome v0.2065 CFB Zornitza Stark Mode of inheritance for gene: CFB was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.2064 CFB Zornitza Stark Classified gene: CFB as Green List (high evidence)
Mendeliome v0.2064 CFB Zornitza Stark Gene: cfb has been classified as Green List (High Evidence).
Mendeliome v0.2063 CFB Zornitza Stark changed review comment from: Single individual reported, supportive immunophenotyping data.; to: Single individual reported with bi-allelic variants and complement deficiency, supportive immunophenotyping data. Mono-allelic variants linked to susceptibility to aHUS.
Mendeliome v0.2063 CFB Zornitza Stark edited their review of gene: CFB: Changed rating: GREEN; Changed publications: 24152280, 17182750; Changed phenotypes: Complement factor B deficiency, MIM# 615561, {Hemolytic uremic syndrome, atypical, susceptibility to, 4} 612924; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.2063 CFB Zornitza Stark Gene: cfb has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2063 CFB Zornitza Stark Phenotypes for gene: CFB were changed from to Complement factor B deficiency, MIM# 615561
Mendeliome v0.2062 CFB Zornitza Stark Publications for gene: CFB were set to
Mendeliome v0.2061 CFB Zornitza Stark Mode of inheritance for gene: CFB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2060 CFB Zornitza Stark Classified gene: CFB as Amber List (moderate evidence)
Mendeliome v0.2060 CFB Zornitza Stark Gene: cfb has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2059 CFB Zornitza Stark reviewed gene: CFB: Rating: AMBER; Mode of pathogenicity: None; Publications: 24152280; Phenotypes: Complement factor B deficiency, MIM# 615561; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2059 CD8A Zornitza Stark Gene: cd8a has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2059 CD8A Zornitza Stark Phenotypes for gene: CD8A were changed from to CD8 deficiency, familial, MIM# 608957
Mendeliome v0.2058 CD8A Zornitza Stark Publications for gene: CD8A were set to
Mendeliome v0.2057 CD8A Zornitza Stark Mode of inheritance for gene: CD8A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2056 CD8A Zornitza Stark Classified gene: CD8A as Amber List (moderate evidence)
Mendeliome v0.2056 CD8A Zornitza Stark Gene: cd8a has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2055 CD8A Zornitza Stark reviewed gene: CD8A: Rating: AMBER; Mode of pathogenicity: None; Publications: 11435463, 17658607, 26563160; Phenotypes: CD8 deficiency, familial, MIM# 608957; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2055 CD81 Zornitza Stark Gene: cd81 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2055 CD81 Zornitza Stark Phenotypes for gene: CD81 were changed from to Immunodeficiency, common variable, 6, MIM# 613496
Mendeliome v0.2054 CD81 Zornitza Stark Publications for gene: CD81 were set to
Mendeliome v0.2053 CD81 Zornitza Stark Mode of inheritance for gene: CD81 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2052 CD81 Zornitza Stark Classified gene: CD81 as Amber List (moderate evidence)
Mendeliome v0.2052 CD81 Zornitza Stark Gene: cd81 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2051 CD81 Zornitza Stark reviewed gene: CD81: Rating: AMBER; Mode of pathogenicity: None; Publications: 20237408; Phenotypes: Immunodeficiency, common variable, 6, MIM# 613496; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2051 CD247 Zornitza Stark Classified gene: CD247 as Green List (high evidence)
Mendeliome v0.2051 CD247 Zornitza Stark Gene: cd247 has been classified as Green List (High Evidence).
Mendeliome v0.2050 CD247 Zornitza Stark changed review comment from: Also known as CD3Z. Single individual reported with homozygous germline nonsense variant, which was present in some T cells, but others had the nonsense variant in combination with one of three different missense somatic variants.; to: Also known as CD3Z. Note one individual reported with homozygous germline nonsense variant, which was present in some T cells, but others had the nonsense variant in combination with one of three different missense somatic variants.
Mendeliome v0.2050 CD247 Zornitza Stark edited their review of gene: CD247: Added comment: Two reports in the literature, note additional two reports in ClinVar; functional data.; Changed rating: GREEN; Changed publications: 16672702, 17170122
Mendeliome v0.2050 C8G Zornitza Stark Gene: c8g has been classified as Red List (Low Evidence).
Mendeliome v0.2050 C8G Zornitza Stark Classified gene: C8G as Red List (low evidence)
Mendeliome v0.2050 C8G Zornitza Stark Gene: c8g has been classified as Red List (Low Evidence).
Mendeliome v0.2049 C8G Zornitza Stark reviewed gene: C8G: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.2049 BLOC1S6 Zornitza Stark Gene: bloc1s6 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2049 BLOC1S6 Zornitza Stark Phenotypes for gene: BLOC1S6 were changed from to Hermansky-Pudlak syndrome 9, MIM# 614171
Mendeliome v0.2048 BLOC1S6 Zornitza Stark Publications for gene: BLOC1S6 were set to
Mendeliome v0.2047 BLOC1S6 Zornitza Stark Mode of inheritance for gene: BLOC1S6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2046 BLOC1S6 Zornitza Stark Classified gene: BLOC1S6 as Amber List (moderate evidence)
Mendeliome v0.2046 BLOC1S6 Zornitza Stark Gene: bloc1s6 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2045 BLOC1S6 Zornitza Stark reviewed gene: BLOC1S6: Rating: AMBER; Mode of pathogenicity: None; Publications: 22461475, 21665000, 32245340; Phenotypes: Hermansky-Pudlak syndrome 9, MIM# 614171; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2045 MIR140 Zornitza Stark Gene: mir140 has been classified as Green List (High Evidence).
Mendeliome v0.2045 MIR140 Zornitza Stark Classified gene: MIR140 as Green List (high evidence)
Mendeliome v0.2045 MIR140 Zornitza Stark Gene: mir140 has been classified as Green List (High Evidence).
Mendeliome v0.2044 MIR140 Zornitza Stark gene: MIR140 was added
gene: MIR140 was added to Mendeliome. Sources: Expert Review
Mode of inheritance for gene: MIR140 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MIR140 were set to 30804514; 31633310
Phenotypes for gene: MIR140 were set to Spondyloepiphyseal dysplasia, Nishimura type, MIM# 618618
Review for gene: MIR140 was set to GREEN
Added comment: Single clinical paper (30804514) reports variant in affected mother and child (de novo in mother) and in a separate unrelated female (de novo) with spondylo-epiphyseal dysplasia. Mouse model (21576357) deletion of gene causes impaired longitudinal bone growth. Separate mouse model studies by same authors as clinical paper above (30804514) showed phenotype of mice with same mutation in this gene consistent with the skeletal dysplasia features of patients with the n.24A-G mutation, suggestive of neomorphic effects (mutation produces both loss-of-function and gain-of-function effects.)
Sources: Expert Review
Mendeliome v0.2043 BCL10 Zornitza Stark reviewed gene: BCL10: Rating: GREEN; Mode of pathogenicity: None; Publications: 25365219, 32008135, 11163238, 12910267; Phenotypes: Immunodeficiency 37, MIM# 616098; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2043 APOL1 Zornitza Stark Mode of inheritance for gene: APOL1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2042 APOL1 Zornitza Stark Phenotypes for gene: APOL1 were changed from to {Glomerulosclerosis, focal segmental, 4, susceptibility to} 612551
Mendeliome v0.2041 APOL1 Zornitza Stark Publications for gene: APOL1 were set to
Mendeliome v0.2040 APOL1 Zornitza Stark Classified gene: APOL1 as Red List (low evidence)
Mendeliome v0.2040 APOL1 Zornitza Stark Gene: apol1 has been classified as Red List (Low Evidence).
Mendeliome v0.2039 APOL1 Zornitza Stark reviewed gene: APOL1: Rating: RED; Mode of pathogenicity: None; Publications: 29470556, 20647424, 24206458, 20635188; Phenotypes: {Glomerulosclerosis, focal segmental, 4, susceptibility to} 612551; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2039 AP1S3 Zornitza Stark Gene: ap1s3 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2039 AP1S3 Zornitza Stark Phenotypes for gene: AP1S3 were changed from to {Psoriasis 15, pustular, susceptibility to} 616106
Mendeliome v0.2038 AP1S3 Zornitza Stark Publications for gene: AP1S3 were set to
Mendeliome v0.2037 AP1S3 Zornitza Stark Mode of inheritance for gene: AP1S3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2036 AP1S3 Zornitza Stark Classified gene: AP1S3 as Amber List (moderate evidence)
Mendeliome v0.2036 AP1S3 Zornitza Stark Gene: ap1s3 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2035 AP1S3 Zornitza Stark reviewed gene: AP1S3: Rating: AMBER; Mode of pathogenicity: None; Publications: 24791904, 27388993; Phenotypes: {Psoriasis 15, pustular, susceptibility to} 616106; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2035 KCNT2 Zornitza Stark Phenotypes for gene: KCNT2 were changed from Epileptic encephalopathy, early infantile, 57, MIM#617771; Developmental and epileptic encephalopathy to Epileptic encephalopathy, early infantile, 57, MIM#617771; Developmental and epileptic encephalopathy; Epilepsy of infancy with migrating focal seizures (EIMFS)
Mendeliome v0.2034 KCNT2 Zornitza Stark Publications for gene: KCNT2 were set to 29069600; 29740868
Mendeliome v0.2033 KCNT2 Kristin Rigbye reviewed gene: KCNT2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 29069600, 29740868, 32038177; Phenotypes: Epileptic encephalopathy, early infantile, 57, 617771, Epilepsy of infancy with migrating focal seizures (EIMFS); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2033 PIEZO1 Zornitza Stark Gene: piezo1 has been classified as Green List (High Evidence).
Mendeliome v0.2033 PIEZO1 Zornitza Stark Publications for gene: PIEZO1 were set to
Mendeliome v0.2032 PIEZO1 Zornitza Stark Phenotypes for gene: PIEZO1 were changed from to Lymphatic malformation 6, 616843; Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, 194380
Mendeliome v0.2031 PIEZO1 Zornitza Stark Mode of pathogenicity for gene: PIEZO1 was changed from to Other
Mendeliome v0.2030 PIEZO1 Zornitza Stark Mode of inheritance for gene: PIEZO1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.2029 TBX19 Zornitza Stark Marked gene: TBX19 as ready
Mendeliome v0.2029 TBX19 Zornitza Stark Gene: tbx19 has been classified as Green List (High Evidence).
Mendeliome v0.2029 TBX19 Zornitza Stark Phenotypes for gene: TBX19 were changed from to Adrenocorticotropic hormone deficiency, 201400
Mendeliome v0.2028 TBX19 Zornitza Stark Publications for gene: TBX19 were set to
Mendeliome v0.2027 TBX19 Zornitza Stark Mode of inheritance for gene: TBX19 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2026 TCF20 Zornitza Stark Marked gene: TCF20 as ready
Mendeliome v0.2026 TCF20 Zornitza Stark Gene: tcf20 has been classified as Green List (High Evidence).
Mendeliome v0.2026 TCF20 Zornitza Stark Phenotypes for gene: TCF20 were changed from to Developmental delay with variable intellectual impairment and behavioral abnormalities, AD, MIM#618430
Mendeliome v0.2025 TCF20 Zornitza Stark Publications for gene: TCF20 were set to
Mendeliome v0.2024 TCF20 Zornitza Stark Mode of inheritance for gene: TCF20 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2023 TFE3 Zornitza Stark Marked gene: TFE3 as ready
Mendeliome v0.2023 TFE3 Zornitza Stark Gene: tfe3 has been classified as Green List (High Evidence).
Mendeliome v0.2023 TFE3 Zornitza Stark Phenotypes for gene: TFE3 were changed from to TFE3-associated neurodevelopmental disorder; Intellectual disability; Epilepsy; Coarse facial features
Mendeliome v0.2022 TFE3 Zornitza Stark Publications for gene: TFE3 were set to
Mendeliome v0.2021 TFE3 Zornitza Stark Mode of inheritance for gene: TFE3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2020 TFE3 Zornitza Stark reviewed gene: TFE3: Rating: GREEN; Mode of pathogenicity: None; Publications: 30595499, 31833172; Phenotypes: TFE3-associated neurodevelopmental disorder, Intellectual disability, Epilepsy, Coarse facial features; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2020 ICOSLG Zornitza Stark Gene: icoslg has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2020 ICOSLG Zornitza Stark Phenotypes for gene: ICOSLG were changed from to Combined immunodeficiency; recurrent bacterial and viral infections; neutropaenia
Mendeliome v0.2019 ICOSLG Zornitza Stark Publications for gene: ICOSLG were set to
Mendeliome v0.2018 ICOSLG Zornitza Stark Mode of inheritance for gene: ICOSLG was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2017 ICOSLG Zornitza Stark Classified gene: ICOSLG as Amber List (moderate evidence)
Mendeliome v0.2017 ICOSLG Zornitza Stark Gene: icoslg has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2016 ICOSLG Zornitza Stark reviewed gene: ICOSLG: Rating: AMBER; Mode of pathogenicity: None; Publications: 31532372, 30498080; Phenotypes: Combined immunodeficiency, recurrent bacterial and viral infections, neutropaenia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2016 TCF20 Chern Lim reviewed gene: TCF20: Rating: GREEN; Mode of pathogenicity: None; Publications: 30739909, 30819258, 25228304; Phenotypes: Developmental delay with variable intellectual impairment and behavioral abnormalities, AD, MIM#618430; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2016 IL6ST Zornitza Stark Phenotypes for gene: IL6ST were changed from Hyper-IgE recurrent infection syndrome 4, autosomal recessive, MIM# 618523; Stuve-Wiedemann-like syndrome: skeletal dysplasia, neonatal lung dysfunction, thrombocytopenia, dermatitis, defective acute-phase response. to Hyper-IgE recurrent infection syndrome 4, autosomal recessive, MIM# 618523; Stuve-Wiedemann-like syndrome: skeletal dysplasia, neonatal lung dysfunction, thrombocytopenia, dermatitis, defective acute-phase response; Hyper-IgE syndrome, autosomal dominant
Mendeliome v0.2015 IL6ST Zornitza Stark Publications for gene: IL6ST were set to 28747427; 30309848; 12370259; 16041381; 31914175
Mendeliome v0.2014 IL6ST Zornitza Stark Mode of inheritance for gene: IL6ST was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.2013 IL6ST Zornitza Stark changed review comment from: Also known as gp130. Two families with bi-allelic missense variants and immunological phenotype described initially. More recently, five individuals from three families reported with a more complex Stuve-Wiedemann-like phenotype reported, including skeletal dysplasia and neonatal lung dysfunction with additional features such as congenital thrombocytopenia, eczematoid dermatitis, renal abnormalities, and defective acute-phase response. These three families had bi-allelic LoF variants (nonsense and canonical splice site). Several mouse models support gene-disease association.
Sources: Expert list; to: Also known as gp130. Two families with bi-allelic missense variants and immunological phenotype described initially. More recently, five individuals from three families reported with a more complex Stuve-Wiedemann-like phenotype reported, including skeletal dysplasia and neonatal lung dysfunction with additional features such as congenital thrombocytopenia, eczematoid dermatitis, renal abnormalities, and defective acute-phase response. These three families had bi-allelic LoF variants (nonsense and canonical splice site). Several mouse models support gene-disease association.
2020: 12 individuals from 8 unrelated families with seven different mono-allelic truncating variants, dominant negative effect proposed.
Sources: Expert list
Mendeliome v0.2013 IL6ST Zornitza Stark edited their review of gene: IL6ST: Changed publications: 28747427, 30309848, 12370259, 16041381, 31914175, 32207811; Changed phenotypes: Hyper-IgE recurrent infection syndrome 4, autosomal recessive, MIM# 618523, Stuve-Wiedemann-like syndrome: skeletal dysplasia, neonatal lung dysfunction, thrombocytopenia, dermatitis, defective acute-phase response, Hyper-IgE syndrome, autosomal dominant; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.2013 TBX19 Kristin Rigbye reviewed gene: TBX19: Rating: GREEN; Mode of pathogenicity: None; Publications: 15613420, 15613420; Phenotypes: Adrenocorticotropic hormone deficiency, 201400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2013 PIEZO1 Kristin Rigbye reviewed gene: PIEZO1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 23695678, 26333996; Phenotypes: Lymphatic malformation 6, 616843, Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, 194380; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.2013 SAMD9L Zornitza Stark Gene: samd9l has been classified as Green List (High Evidence).
Mendeliome v0.2013 SAMD9L Zornitza Stark Phenotypes for gene: SAMD9L were changed from to Ataxia-pancytopenia syndrome, MIM# 159550
Mendeliome v0.2012 SAMD9L Zornitza Stark Publications for gene: SAMD9L were set to
Mendeliome v0.2011 SAMD9L Zornitza Stark Mode of pathogenicity for gene: SAMD9L was changed from to Other
Mendeliome v0.2010 SAMD9L Zornitza Stark Mode of inheritance for gene: SAMD9L was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2009 SAMD9L Zornitza Stark edited their review of gene: SAMD9L: Changed mode of pathogenicity: Other
Mendeliome v0.2009 SAMD9L Zornitza Stark reviewed gene: SAMD9L: Rating: GREEN; Mode of pathogenicity: None; Publications: 27259050, 30923096, 30322869; Phenotypes: Ataxia-pancytopenia syndrome, MIM# 159550; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.2009 RFWD3 Zornitza Stark Gene: rfwd3 has been classified as Red List (Low Evidence).
Mendeliome v0.2009 RFWD3 Zornitza Stark Phenotypes for gene: RFWD3 were changed from to Fanconi anemia, complementation group W, MIM# 617784
Mendeliome v0.2008 RFWD3 Zornitza Stark Publications for gene: RFWD3 were set to
Mendeliome v0.2007 RFWD3 Zornitza Stark Mode of inheritance for gene: RFWD3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2006 RFWD3 Zornitza Stark Classified gene: RFWD3 as Red List (low evidence)
Mendeliome v0.2006 RFWD3 Zornitza Stark Gene: rfwd3 has been classified as Red List (Low Evidence).
Mendeliome v0.2005 RFWD3 Zornitza Stark reviewed gene: RFWD3: Rating: RED; Mode of pathogenicity: None; Publications: 28691929; Phenotypes: Fanconi anemia, complementation group W, MIM# 617784; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2005 MAD2L2 Zornitza Stark Gene: mad2l2 has been classified as Red List (Low Evidence).
Mendeliome v0.2005 MAD2L2 Zornitza Stark gene: MAD2L2 was added
gene: MAD2L2 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: MAD2L2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MAD2L2 were set to 27500492
Phenotypes for gene: MAD2L2 were set to Fanconi anemia, complementation group V, MIM# 617243
Review for gene: MAD2L2 was set to RED
Added comment: Single family reported.
Sources: Expert list
Mendeliome v0.2004 UBE2T Zornitza Stark Marked gene: UBE2T as ready
Mendeliome v0.2004 UBE2T Zornitza Stark Gene: ube2t has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2004 UBE2T Zornitza Stark Phenotypes for gene: UBE2T were changed from to Fanconi anemia, complementation group T, MIM# 616435
Mendeliome v0.2003 UBE2T Zornitza Stark Publications for gene: UBE2T were set to
Mendeliome v0.2002 UBE2T Zornitza Stark Mode of inheritance for gene: UBE2T was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2001 UBE2T Zornitza Stark Classified gene: UBE2T as Amber List (moderate evidence)
Mendeliome v0.2001 UBE2T Zornitza Stark Gene: ube2t has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2000 UBE2T Zornitza Stark reviewed gene: UBE2T: Rating: AMBER; Mode of pathogenicity: None; Publications: 26046368; Phenotypes: Fanconi anemia, complementation group T, MIM# 616435; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2000 HAVCR2 Zornitza Stark Gene: havcr2 has been classified as Green List (High Evidence).
Mendeliome v0.2000 HAVCR2 Zornitza Stark Classified gene: HAVCR2 as Green List (high evidence)
Mendeliome v0.2000 HAVCR2 Zornitza Stark Gene: havcr2 has been classified as Green List (High Evidence).
Mendeliome v0.1999 HAVCR2 Zornitza Stark gene: HAVCR2 was added
gene: HAVCR2 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: HAVCR2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HAVCR2 were set to 30374066; 30792187
Phenotypes for gene: HAVCR2 were set to T-cell lymphoma, subcutaneous panniculitis-like, MIM# 618398
Review for gene: HAVCR2 was set to GREEN
Added comment: Over 20 unrelated individuals reported, note germline confirmation in only a few. Some variants are recurrent: c.245A>G (p.Tyr82Cys) and c.291A>G (p.Ile97Met).
Sources: Expert list
Mendeliome v0.1998 TRIM22 Zornitza Stark Marked gene: TRIM22 as ready
Mendeliome v0.1998 TRIM22 Zornitza Stark Gene: trim22 has been classified as Green List (High Evidence).
Mendeliome v0.1998 TRIM22 Zornitza Stark Classified gene: TRIM22 as Green List (high evidence)
Mendeliome v0.1998 TRIM22 Zornitza Stark Gene: trim22 has been classified as Green List (High Evidence).
Mendeliome v0.1997 TRIM22 Zornitza Stark gene: TRIM22 was added
gene: TRIM22 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: TRIM22 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TRIM22 were set to 26836588
Phenotypes for gene: TRIM22 were set to Inflammatory bowel disease
Review for gene: TRIM22 was set to GREEN
Added comment: Three unrelated families reported with bi-allelic variants in this gene, and very early onset IBD, some functional data.
Sources: Expert list
Mendeliome v0.1996 ALPI Zornitza Stark Gene: alpi has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1996 ALPI Zornitza Stark Classified gene: ALPI as Amber List (moderate evidence)
Mendeliome v0.1996 ALPI Zornitza Stark Gene: alpi has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1995 ALPI Zornitza Stark gene: ALPI was added
gene: ALPI was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: ALPI was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ALPI were set to 29567797
Phenotypes for gene: ALPI were set to Inflammatory bowel disease
Review for gene: ALPI was set to AMBER
Added comment: Two unrelated individuals, some functional data.
Sources: Expert list
Mendeliome v0.1994 PSMG2 Zornitza Stark Gene: psmg2 has been classified as Red List (Low Evidence).
Mendeliome v0.1994 PSMG2 Zornitza Stark gene: PSMG2 was added
gene: PSMG2 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: PSMG2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PSMG2 were set to 30664889
Phenotypes for gene: PSMG2 were set to CANDLE syndrome; Chronic atypical neutrophilic dermatitis with lipodystrophy
Review for gene: PSMG2 was set to RED
Added comment: Single individual reported.
Sources: Expert list
Mendeliome v0.1993 NLRP1 Zornitza Stark Gene: nlrp1 has been classified as Green List (High Evidence).
Mendeliome v0.1993 NLRP1 Zornitza Stark Phenotypes for gene: NLRP1 were changed from to Autoinflammation with arthritis and dyskeratosis, MIM# 617388; Palmoplantar carcinoma, multiple self-healing, MIM# 615225; Recurrent respiratory papillomatosis
Mendeliome v0.1992 NLRP1 Zornitza Stark Publications for gene: NLRP1 were set to
Mendeliome v0.1991 NLRP1 Zornitza Stark Mode of inheritance for gene: NLRP1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.1990 NLRP1 Zornitza Stark reviewed gene: NLRP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27965258, 31484767, 27662089; Phenotypes: Autoinflammation with arthritis and dyskeratosis, MIM# 617388, Palmoplantar carcinoma, multiple self-healing 615225, Recurrent respiratory papillomatosis; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.1990 POLA1 Zornitza Stark Gene: pola1 has been classified as Green List (High Evidence).
Mendeliome v0.1990 POLA1 Zornitza Stark Phenotypes for gene: POLA1 were changed from to Pigmentary disorder, reticulate, with systemic manifestations, X-linked, MIM# 301220; Van Esch-O'Driscoll syndrome OMIM# 301030
Mendeliome v0.1989 POLA1 Zornitza Stark Publications for gene: POLA1 were set to
Mendeliome v0.1988 POLA1 Zornitza Stark Mode of inheritance for gene: POLA1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.1987 POLA1 Zornitza Stark Tag deep intronic tag was added to gene: POLA1.
Mendeliome v0.1987 POLA1 Zornitza Stark reviewed gene: POLA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27019227, 31006512; Phenotypes: Pigmentary disorder, reticulate, with systemic manifestations, X-linked, MIM# 301220, Van Esch-O'Driscoll syndrome OMIM# 301030; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.1987 HMOX1 Zornitza Stark reviewed gene: HMOX1: Rating: AMBER; Mode of pathogenicity: None; Publications: 21088618, 9884342, 20844238; Phenotypes: Heme oxygenase-1 deficiency, MIM# 614034, Asplenia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1987 TIRAP Zornitza Stark changed review comment from: No evidence currently for Mendelian disease association. Some evidence for polymorphisms in this gene influencing susceptibility/protection from infectious disease.; to: No evidence currently for Mendelian disease association. Some evidence for polymorphisms in this gene influencing susceptibility/protection from infectious disease. One family with 8 individuals and bi-allelic variants and susceptibility to staphylococcal disease reported.
Mendeliome v0.1987 TIRAP Zornitza Stark edited their review of gene: TIRAP: Changed publications: 28235196; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.1987 IRAK1 Zornitza Stark Gene: irak1 has been classified as Red List (Low Evidence).
Mendeliome v0.1987 IRAK1 Zornitza Stark Tag SV/CNV tag was added to gene: IRAK1.
Mendeliome v0.1987 IRAK1 Zornitza Stark gene: IRAK1 was added
gene: IRAK1 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: IRAK1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: IRAK1 were set to 28069966
Phenotypes for gene: IRAK1 were set to Susceptibility to bacterial infections
Review for gene: IRAK1 was set to RED
Added comment: Single individual with MECP2 and IRAK1 deletion, died in infancy, immunological phenotype not fully elucidated. In vitro studies.
Sources: Expert list
Mendeliome v0.1986 DBR1 Zornitza Stark Gene: dbr1 has been classified as Green List (High Evidence).
Mendeliome v0.1986 DBR1 Zornitza Stark Classified gene: DBR1 as Green List (high evidence)
Mendeliome v0.1986 DBR1 Zornitza Stark Gene: dbr1 has been classified as Green List (High Evidence).
Mendeliome v0.1985 DBR1 Zornitza Stark gene: DBR1 was added
gene: DBR1 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: DBR1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DBR1 were set to 29474921
Phenotypes for gene: DBR1 were set to Viral infections of the brainstem
Review for gene: DBR1 was set to GREEN
Added comment: Seven individuals from three unrelated families with viral brainstem encephalitis and bi-allelic hypomorphic variants.
Sources: Expert list
Mendeliome v0.1984 POLR3F Zornitza Stark Gene: polr3f has been classified as Red List (Low Evidence).
Mendeliome v0.1984 POLR3F Zornitza Stark gene: POLR3F was added
gene: POLR3F was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: POLR3F was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: POLR3F were set to 30211253
Phenotypes for gene: POLR3F were set to Severe VZV infection
Review for gene: POLR3F was set to RED
Added comment: Missense variant identified in a pair of monozygotic twins. Variant was paternally inherited.
Sources: Expert list
Mendeliome v0.1983 POLR3C Zornitza Stark Gene: polr3c has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1983 POLR3C Zornitza Stark Classified gene: POLR3C as Amber List (moderate evidence)
Mendeliome v0.1983 POLR3C Zornitza Stark Gene: polr3c has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1982 POLR3C Zornitza Stark gene: POLR3C was added
gene: POLR3C was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: POLR3C was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: POLR3C were set to 28783042
Phenotypes for gene: POLR3C were set to Severe VZV infection
Review for gene: POLR3C was set to AMBER
Added comment: One individual with POLR3C variant and another individual with both POL3RA and POL3RC variants.
Sources: Expert list
Mendeliome v0.1981 POLR3A Zornitza Stark Gene: polr3a has been classified as Green List (High Evidence).
Mendeliome v0.1981 POLR3A Zornitza Stark Phenotypes for gene: POLR3A were changed from to Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism, MIM# 607694; Wiedemann-Rautenstrauch syndrome, MIM# 264090; Susceptibility to severe VZV infection
Mendeliome v0.1980 POLR3A Zornitza Stark Mode of inheritance for gene: POLR3A was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.1979 POLR3A Zornitza Stark reviewed gene: POLR3A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism, MIM# 607694, Wiedemann-Rautenstrauch syndrome, MIM# 264090, Susceptibility to severe VZV infection; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.1979 IFNAR2 Zornitza Stark Gene: ifnar2 has been classified as Red List (Low Evidence).
Mendeliome v0.1979 IFNAR2 Zornitza Stark Phenotypes for gene: IFNAR2 were changed from to Immunodeficiency 45, MIM# 616669
Mendeliome v0.1978 IFNAR2 Zornitza Stark Publications for gene: IFNAR2 were set to
Mendeliome v0.1977 IFNAR2 Zornitza Stark Mode of inheritance for gene: IFNAR2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1976 IFNAR2 Zornitza Stark Classified gene: IFNAR2 as Red List (low evidence)
Mendeliome v0.1976 IFNAR2 Zornitza Stark Gene: ifnar2 has been classified as Red List (Low Evidence).
Mendeliome v0.1975 IFNAR2 Zornitza Stark reviewed gene: IFNAR2: Rating: RED; Mode of pathogenicity: None; Publications: 26424569; Phenotypes: Immunodeficiency 45, MIM# 616669; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1975 IFNAR1 Zornitza Stark Gene: ifnar1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1975 IFNAR1 Zornitza Stark Classified gene: IFNAR1 as Amber List (moderate evidence)
Mendeliome v0.1975 IFNAR1 Zornitza Stark Gene: ifnar1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1974 IFNAR1 Zornitza Stark gene: IFNAR1 was added
gene: IFNAR1 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: IFNAR1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IFNAR1 were set to 31270247
Phenotypes for gene: IFNAR1 were set to Severe disease caused by Yellow Fever vaccine and Measles vaccine
Review for gene: IFNAR1 was set to AMBER
Added comment: Two unrelated individuals reported with bi-allelic LoF variants, some functional data.
Sources: Expert list
Mendeliome v0.1973 IRF9 Zornitza Stark Gene: irf9 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1973 IRF9 Zornitza Stark Classified gene: IRF9 as Amber List (moderate evidence)
Mendeliome v0.1973 IRF9 Zornitza Stark Gene: irf9 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1972 IRF9 Zornitza Stark gene: IRF9 was added
gene: IRF9 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: IRF9 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IRF9 were set to 30826365; 30143481
Phenotypes for gene: IRF9 were set to Immunodeficiency 65, susceptibility to viral infections 618648
Review for gene: IRF9 was set to AMBER
Added comment: Two families reported.
Sources: Expert list
Mendeliome v0.1971 CIB1 Zornitza Stark Gene: cib1 has been classified as Green List (High Evidence).
Mendeliome v0.1971 CIB1 Zornitza Stark Classified gene: CIB1 as Green List (high evidence)
Mendeliome v0.1971 CIB1 Zornitza Stark Gene: cib1 has been classified as Green List (High Evidence).
Mendeliome v0.1970 CIB1 Zornitza Stark gene: CIB1 was added
gene: CIB1 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: CIB1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CIB1 were set to 30068544
Phenotypes for gene: CIB1 were set to Epidermodysplasia verruciformis 3 618267; HPV infections and cancer of the skin
Review for gene: CIB1 was set to GREEN
Added comment: 24 individuals from 6 families reported.
Sources: Expert list
Mendeliome v0.1969 JAK1 Zornitza Stark Phenotypes for gene: JAK1 were changed from Eosinophilia; Eosinophilic enteritis; Thyroid disease; Poor growth; Viral infections to Eosinophilia; Eosinophilic enteritis; Thyroid disease; Poor growth; Viral infections; Susceptibility to mycobacteria and viruses
Mendeliome v0.1968 JAK1 Zornitza Stark Publications for gene: JAK1 were set to 28111307
Mendeliome v0.1967 JAK1 Zornitza Stark Mode of inheritance for gene: JAK1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.1966 JAK1 Zornitza Stark Classified gene: JAK1 as Amber List (moderate evidence)
Mendeliome v0.1966 JAK1 Zornitza Stark Gene: jak1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1965 JAK1 Zornitza Stark changed review comment from: Single family reported (mother and two children) with GoF variant.
Sources: Expert list; to: Single family reported (mother and two children) with GoF variant and immune dysregulation phenotype. Another individual reported with bi-allelic LoF and susceptibility to mycobacterial infections. Mouse model with NK defect.
Sources: Expert list
Mendeliome v0.1965 JAK1 Zornitza Stark edited their review of gene: JAK1: Changed rating: AMBER; Changed publications: 28111307, 28008925, 30671064; Changed phenotypes: Eosinophilia, Eosinophilic enteritis, Thyroid disease, Poor growth, Viral infections, Susceptibility to mycobacteria and viruses; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.1965 SPPL2A Zornitza Stark Gene: sppl2a has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1965 SPPL2A Zornitza Stark Classified gene: SPPL2A as Amber List (moderate evidence)
Mendeliome v0.1965 SPPL2A Zornitza Stark Gene: sppl2a has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1964 SPPL2A Zornitza Stark gene: SPPL2A was added
gene: SPPL2A was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: SPPL2A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SPPL2A were set to 30127434
Phenotypes for gene: SPPL2A were set to Susceptibility to mycobacteria and Salmonella
Review for gene: SPPL2A was set to AMBER
Added comment: Three individuals from two unrelated consanguineous family with two different homozygous splice site variants, functional data.
Sources: Expert list
Mendeliome v0.1963 IL23R Zornitza Stark Gene: il23r has been classified as Red List (Low Evidence).
Mendeliome v0.1963 IL23R Zornitza Stark Phenotypes for gene: IL23R were changed from to Susceptibility to mycobacteria and Salmonella
Mendeliome v0.1962 IL23R Zornitza Stark Publications for gene: IL23R were set to
Mendeliome v0.1961 IL23R Zornitza Stark Mode of inheritance for gene: IL23R was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1960 IL23R Zornitza Stark Classified gene: IL23R as Red List (low evidence)
Mendeliome v0.1960 IL23R Zornitza Stark Gene: il23r has been classified as Red List (Low Evidence).
Mendeliome v0.1959 IL23R Zornitza Stark reviewed gene: IL23R: Rating: RED; Mode of pathogenicity: None; Publications: 30578351; Phenotypes: Susceptibility to mycobacteria and Salmonella; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1959 IL12RB2 Zornitza Stark Gene: il12rb2 has been classified as Red List (Low Evidence).
Mendeliome v0.1959 IL12RB2 Zornitza Stark gene: IL12RB2 was added
gene: IL12RB2 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: IL12RB2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IL12RB2 were set to 30578351
Phenotypes for gene: IL12RB2 were set to Susceptibility to mycobacteria and Salmonella
Review for gene: IL12RB2 was set to RED
Added comment: Single individual reported, some functional data.
Sources: Expert list
Mendeliome v0.1958 C17orf62 Zornitza Stark Gene: c17orf62 has been classified as Green List (High Evidence).
Mendeliome v0.1958 C17orf62 Zornitza Stark Classified gene: C17orf62 as Green List (high evidence)
Mendeliome v0.1958 C17orf62 Zornitza Stark Gene: c17orf62 has been classified as Green List (High Evidence).
Mendeliome v0.1957 C17orf62 Zornitza Stark gene: C17orf62 was added
gene: C17orf62 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: C17orf62 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: C17orf62 were set to 30361506; 30312704; 28351984
Phenotypes for gene: C17orf62 were set to Chronic granulomatous disease
Review for gene: C17orf62 was set to GREEN
Added comment: Seven Icelandic families reported with same homozygous variant, p.Tyr2Ter and an additional family from different ethnic background with different homozygous splice site variant. Functional data, including mouse model. Gene also known as EROS and CYBC1 (HGNC approved name)
Sources: Expert list
Mendeliome v0.1956 MKL1 Zornitza Stark Gene: mkl1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1956 MKL1 Zornitza Stark Classified gene: MKL1 as Amber List (moderate evidence)
Mendeliome v0.1956 MKL1 Zornitza Stark Gene: mkl1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1955 MKL1 Zornitza Stark gene: MKL1 was added
gene: MKL1 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: MKL1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MKL1 were set to 32128589; 26224645
Phenotypes for gene: MKL1 were set to Neutropaenia with combined immune deficiency
Review for gene: MKL1 was set to AMBER
Added comment: Two unrelated families reported.
Sources: Expert list
Mendeliome v0.1954 HYOU1 Zornitza Stark Gene: hyou1 has been classified as Red List (Low Evidence).
Mendeliome v0.1954 HYOU1 Zornitza Stark gene: HYOU1 was added
gene: HYOU1 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: HYOU1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HYOU1 were set to 27913302
Phenotypes for gene: HYOU1 were set to Immunodeficiency 59 and hypoglycemia, MIM# 233600
Review for gene: HYOU1 was set to RED
Added comment: Single individual reported.
Sources: Expert list
Mendeliome v0.1953 SMARCD2 Zornitza Stark Gene: smarcd2 has been classified as Green List (High Evidence).
Mendeliome v0.1953 SMARCD2 Zornitza Stark Classified gene: SMARCD2 as Green List (high evidence)
Mendeliome v0.1953 SMARCD2 Zornitza Stark Gene: smarcd2 has been classified as Green List (High Evidence).
Mendeliome v0.1952 SMARCD2 Zornitza Stark gene: SMARCD2 was added
gene: SMARCD2 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: SMARCD2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SMARCD2 were set to 28369036; 28369034
Phenotypes for gene: SMARCD2 were set to Specific granule deficiency 2, MIM# 617475; Neutropaenia; Neurodevelopmental abnormalities in some; Myelodysplasia
Review for gene: SMARCD2 was set to GREEN
Added comment: Three unrelated families and functional data.
Sources: Expert list
Mendeliome v0.1951 TNFRSF9 Zornitza Stark Marked gene: TNFRSF9 as ready
Mendeliome v0.1951 TNFRSF9 Zornitza Stark Gene: tnfrsf9 has been classified as Green List (High Evidence).
Mendeliome v0.1951 TNFRSF9 Zornitza Stark Classified gene: TNFRSF9 as Green List (high evidence)
Mendeliome v0.1951 TNFRSF9 Zornitza Stark Gene: tnfrsf9 has been classified as Green List (High Evidence).
Mendeliome v0.1950 TNFRSF9 Zornitza Stark gene: TNFRSF9 was added
gene: TNFRSF9 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: TNFRSF9 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TNFRSF9 were set to 30872117; 31501153
Phenotypes for gene: TNFRSF9 were set to EBV lymphoproliferation; B-cell lymphoma; Chronic active EBV infection
Review for gene: TNFRSF9 was set to GREEN
Added comment: Six unrelated individuals, two with same homozygous G109S missense variant, functional data.
Sources: Expert list
Mendeliome v0.1949 CTPS1 Zornitza Stark Marked gene: CTPS1 as ready
Mendeliome v0.1949 CTPS1 Zornitza Stark Gene: ctps1 has been classified as Green List (High Evidence).
Mendeliome v0.1949 CTPS1 Zornitza Stark Phenotypes for gene: CTPS1 were changed from to Immunodeficiency 24, MIM# 615897; Recurrent/chronic bacterial and viral infections (EBV, VZV); EBV lymphoproliferation; B-cell non-Hodgkin lymphoma
Mendeliome v0.1948 CTPS1 Zornitza Stark Publications for gene: CTPS1 were set to
Mendeliome v0.1947 CTPS1 Zornitza Stark Mode of inheritance for gene: CTPS1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1946 CTPS1 Zornitza Stark reviewed gene: CTPS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24870241; Phenotypes: Immunodeficiency 24, MIM# 615897, Recurrent/chronic bacterial and viral infections (EBV, VZV), EBV lymphoproliferation, B-cell non-Hodgkin lymphoma; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1946 JAK1 Zornitza Stark Gene: jak1 has been classified as Red List (Low Evidence).
Mendeliome v0.1946 JAK1 Zornitza Stark gene: JAK1 was added
gene: JAK1 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: JAK1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: JAK1 were set to 28111307
Phenotypes for gene: JAK1 were set to Eosinophilia; Eosinophilic enteritis; Thyroid disease; Poor growth; Viral infections
Review for gene: JAK1 was set to RED
Added comment: Single family reported (mother and two children) with GoF variant.
Sources: Expert list
Mendeliome v0.1945 IL2RB Zornitza Stark Gene: il2rb has been classified as Green List (High Evidence).
Mendeliome v0.1945 IL2RB Zornitza Stark Classified gene: IL2RB as Green List (high evidence)
Mendeliome v0.1945 IL2RB Zornitza Stark Gene: il2rb has been classified as Green List (High Evidence).
Mendeliome v0.1944 IL2RB Zornitza Stark gene: IL2RB was added
gene: IL2RB was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: IL2RB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IL2RB were set to 31040184; 31040185
Phenotypes for gene: IL2RB were set to Immunodeficiency 63 with lymphoproliferation and autoimmunity, MIM# 618495; Lymphoproliferation, lymphadenopathy, hepatosplenomegaly, autoimmune haemolytic anaemia, dermatitis, enteropathy, hypergammaglobulinaemia, recurrent viral (EBV, CMV) infections
Review for gene: IL2RB was set to GREEN
Added comment: Five families reported.
Sources: Expert list
Mendeliome v0.1943 AP3D1 Zornitza Stark Gene: ap3d1 has been classified as Red List (Low Evidence).
Mendeliome v0.1943 AP3D1 Zornitza Stark gene: AP3D1 was added
gene: AP3D1 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: AP3D1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AP3D1 were set to 26744459; 9697856
Phenotypes for gene: AP3D1 were set to Hermansky-Pudlak syndrome 10, MIM# 617050; Oculocutaneous albinism; Severe neutropaenia; Recurrent infections; Seizures; Hearing loss; Neurodevelopmental delay
Review for gene: AP3D1 was set to RED
Added comment: Single family and a mouse model.
Sources: Expert list
Mendeliome v0.1942 FAAP24 Zornitza Stark Gene: faap24 has been classified as Red List (Low Evidence).
Mendeliome v0.1942 FAAP24 Zornitza Stark gene: FAAP24 was added
gene: FAAP24 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: FAAP24 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FAAP24 were set to 27473539
Phenotypes for gene: FAAP24 were set to EBV infection-driven lymphoproliferative disease
Review for gene: FAAP24 was set to RED
Added comment: Single sib pair with homozygous missense variant, some functional data.
Sources: Expert list
Mendeliome v0.1941 SH3KBP1 Zornitza Stark Gene: sh3kbp1 has been classified as Red List (Low Evidence).
Mendeliome v0.1941 SH3KBP1 Zornitza Stark Tag SV/CNV tag was added to gene: SH3KBP1.
Mendeliome v0.1941 SH3KBP1 Zornitza Stark gene: SH3KBP1 was added
gene: SH3KBP1 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: SH3KBP1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: SH3KBP1 were set to 29636373; 21708930
Phenotypes for gene: SH3KBP1 were set to Immunodeficiency 61, MIM# 300310
Review for gene: SH3KBP1 was set to RED
Added comment: Single family reported, 247.5-kb intragenic deletion detected by array.
Sources: Expert list
Mendeliome v0.1940 ARHGEF1 Zornitza Stark Gene: arhgef1 has been classified as Red List (Low Evidence).
Mendeliome v0.1940 ARHGEF1 Zornitza Stark gene: ARHGEF1 was added
gene: ARHGEF1 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: ARHGEF1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ARHGEF1 were set to 30521495
Phenotypes for gene: ARHGEF1 were set to Immunodeficiency 62, MIM#618459
Review for gene: ARHGEF1 was set to RED
Added comment: Single family, functional data.
Sources: Expert list
Mendeliome v0.1939 ATP6AP1 Zornitza Stark Marked gene: ATP6AP1 as ready
Mendeliome v0.1939 ATP6AP1 Zornitza Stark Gene: atp6ap1 has been classified as Green List (High Evidence).
Mendeliome v0.1939 ATP6AP1 Zornitza Stark Phenotypes for gene: ATP6AP1 were changed from to Immunodeficiency 47, MIM#300972; Hepatopathy; Leukopaenia; Low copper; Intellectual disability in some
Mendeliome v0.1938 ATP6AP1 Zornitza Stark Publications for gene: ATP6AP1 were set to
Mendeliome v0.1937 ATP6AP1 Zornitza Stark Mode of inheritance for gene: ATP6AP1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.1936 IRF2BP2 Zornitza Stark Gene: irf2bp2 has been classified as Red List (Low Evidence).
Mendeliome v0.1936 IRF2BP2 Zornitza Stark gene: IRF2BP2 was added
gene: IRF2BP2 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: IRF2BP2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: IRF2BP2 were set to 27016798
Phenotypes for gene: IRF2BP2 were set to Immunodeficiency, common variable, 14, MIM# 617765
Review for gene: IRF2BP2 was set to RED
Added comment: Single family reported only.
Sources: Expert list
Mendeliome v0.1935 TOP2B Zornitza Stark Phenotypes for gene: TOP2B were changed from Autosomal dominant deafness to Autosomal dominant deafness; Antibody deficiency, recurrent infections, facial dysmorphism, limb anomalies; Intellectual disability
Mendeliome v0.1934 TOP2B Zornitza Stark Publications for gene: TOP2B were set to 31198993
Mendeliome v0.1933 TOP2B Zornitza Stark changed review comment from: Association with deafness: One multigenerational family where variant in this gene segregated; two additional variants identified in a cohort; supportive animal model data.
Association with immunological phenotypes: Four individuals from three unrelated families reported, all the variants affected the TOPRIM domain, functional data including mouse model.
Sources: Literature; to: Association with deafness: One multigenerational family where variant in this gene segregated; two additional variants identified in a cohort; supportive animal model data.
Association with immunological phenotypes: Four individuals from three unrelated families reported, all the variants affected the TOPRIM domain, functional data including mouse model.
Intellectual disability: two unrelated individuals reported with same de novo variant, c.187C > T, p.(His63Tyr) and also supportive mouse model data.
Sources: Literature
Mendeliome v0.1933 TOP2B Zornitza Stark edited their review of gene: TOP2B: Changed publications: 28343847, 31198993, 31409799, 12773624; Changed phenotypes: Autosomal dominant deafness, Antibody deficiency, recurrent infections, facial dysmorphism, limb anomalies, Intellectual disability
Mendeliome v0.1933 TOP2B Zornitza Stark edited their review of gene: TOP2B: Changed publications: 28343847
Mendeliome v0.1933 TOP2B Zornitza Stark Classified gene: TOP2B as Green List (high evidence)
Mendeliome v0.1933 TOP2B Zornitza Stark Gene: top2b has been classified as Green List (High Evidence).
Mendeliome v0.1932 TOP2B Zornitza Stark changed review comment from: One multigenerational family where variant in this gene segregated; two additional variants identified in a cohort; supportive animal model data.
Sources: Literature; to: Association with deafness: One multigenerational family where variant in this gene segregated; two additional variants identified in a cohort; supportive animal model data.
Association with immunological phenotypes: Four individuals from three unrelated families reported, all the variants affected the TOPRIM domain, functional data including mouse model.
Sources: Literature
Mendeliome v0.1932 TOP2B Zornitza Stark edited their review of gene: TOP2B: Changed rating: GREEN; Changed publications: 31198993, 31409799, 31953910; Changed phenotypes: Autosomal dominant deafness, Antibody deficiency, recurrent infections, facial dysmorphism, limb anomalies
Mendeliome v0.1932 SLC39A7 Zornitza Stark Gene: slc39a7 has been classified as Green List (High Evidence).
Mendeliome v0.1932 SLC39A7 Zornitza Stark Classified gene: SLC39A7 as Green List (high evidence)
Mendeliome v0.1932 SLC39A7 Zornitza Stark Gene: slc39a7 has been classified as Green List (High Evidence).
Mendeliome v0.1931 SLC39A7 Zornitza Stark gene: SLC39A7 was added
gene: SLC39A7 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: SLC39A7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC39A7 were set to 30718914
Phenotypes for gene: SLC39A7 were set to Antibody deficiency; early onset infections; blistering dermatosis; failure to thrive; thrombocytopaenia
Review for gene: SLC39A7 was set to GREEN
Added comment: Five unrelated families with hypomorphic variants and a mouse model recapitulating phenotype.
Sources: Expert list
Mendeliome v0.1930 NFE2L2 Zornitza Stark Gene: nfe2l2 has been classified as Green List (High Evidence).
Mendeliome v0.1930 NFE2L2 Zornitza Stark Classified gene: NFE2L2 as Green List (high evidence)
Mendeliome v0.1930 NFE2L2 Zornitza Stark Gene: nfe2l2 has been classified as Green List (High Evidence).
Mendeliome v0.1929 NFE2L2 Zornitza Stark gene: NFE2L2 was added
gene: NFE2L2 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: NFE2L2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NFE2L2 were set to 29018201
Phenotypes for gene: NFE2L2 were set to Immunodeficiency, developmental delay, and hypohomocysteinemia, MIM# 617744; Recurrent respiratory and skin infection; Growth retardation; Developmental delay, borderline ID; White matter cerebral lesions
Review for gene: NFE2L2 was set to GREEN
Added comment: Four unrelated individuals reported.
Sources: Expert list
Mendeliome v0.1928 ERBIN Zornitza Stark Gene: erbin has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1928 ERBIN Zornitza Stark Classified gene: ERBIN as Amber List (moderate evidence)
Mendeliome v0.1928 ERBIN Zornitza Stark Gene: erbin has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1927 ERBIN Zornitza Stark gene: ERBIN was added
gene: ERBIN was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: ERBIN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ERBIN were set to 28126831
Phenotypes for gene: ERBIN were set to Recurrent respiratory infections; Susceptibility to S.aureus; Eczema; Hyperextensible joints; Scoliosis; Arterial dilatation in some
Review for gene: ERBIN was set to AMBER
Added comment: Single family and functional data.
Sources: Expert list
Mendeliome v0.1926 ZNF341 Zornitza Stark Gene: znf341 has been classified as Green List (High Evidence).
Mendeliome v0.1926 ZNF341 Zornitza Stark Classified gene: ZNF341 as Green List (high evidence)
Mendeliome v0.1926 ZNF341 Zornitza Stark Gene: znf341 has been classified as Green List (High Evidence).
Mendeliome v0.1925 ZNF341 Zornitza Stark gene: ZNF341 was added
gene: ZNF341 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: ZNF341 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ZNF341 were set to 29907691; 29907690
Phenotypes for gene: ZNF341 were set to Hyper-IgE recurrent infection syndrome 3, autosomal recessive, MIM# 618282; Mild facial dysmorphism; Early onset eczema; Recurrent bacterial skin infections, abscesses; Recurrent respiratory infections, lung abscesses and pneumothoraces; Hyperextensible joints, bone fractures, retention of primary teeth
Review for gene: ZNF341 was set to GREEN
Added comment: 19 individuals from 10 families reported, some sharing the same homozygous variants (at least 4 different LoF variants reported).
Sources: Expert list
Mendeliome v0.1924 IL6ST Zornitza Stark Marked gene: IL6ST as ready
Mendeliome v0.1924 IL6ST Zornitza Stark Gene: il6st has been classified as Green List (High Evidence).
Mendeliome v0.1924 IL6ST Zornitza Stark Classified gene: IL6ST as Green List (high evidence)
Mendeliome v0.1924 IL6ST Zornitza Stark Gene: il6st has been classified as Green List (High Evidence).
Mendeliome v0.1923 IL6ST Zornitza Stark gene: IL6ST was added
gene: IL6ST was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: IL6ST was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IL6ST were set to 28747427; 30309848; 12370259; 16041381; 31914175
Phenotypes for gene: IL6ST were set to Hyper-IgE recurrent infection syndrome 4, autosomal recessive, MIM# 618523; Stuve-Wiedemann-like syndrome: skeletal dysplasia, neonatal lung dysfunction, thrombocytopenia, dermatitis, defective acute-phase response.
Review for gene: IL6ST was set to GREEN
Added comment: Also known as gp130. Two families with bi-allelic missense variants and immunological phenotype described initially. More recently, five individuals from three families reported with a more complex Stuve-Wiedemann-like phenotype reported, including skeletal dysplasia and neonatal lung dysfunction with additional features such as congenital thrombocytopenia, eczematoid dermatitis, renal abnormalities, and defective acute-phase response. These three families had bi-allelic LoF variants (nonsense and canonical splice site). Several mouse models support gene-disease association.
Sources: Expert list
Mendeliome v0.1922 IL6R Zornitza Stark Gene: il6r has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1922 IL6R Zornitza Stark Phenotypes for gene: IL6R were changed from to Recurrent pyogenic infections, cold abscesses; High circulating IL-6 levels; High IgE
Mendeliome v0.1921 IL6R Zornitza Stark Publications for gene: IL6R were set to
Mendeliome v0.1920 IL6R Zornitza Stark Mode of inheritance for gene: IL6R was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1919 IL6R Zornitza Stark Classified gene: IL6R as Amber List (moderate evidence)
Mendeliome v0.1919 IL6R Zornitza Stark Gene: il6r has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1918 IL6R Zornitza Stark reviewed gene: IL6R: Rating: AMBER; Mode of pathogenicity: None; Publications: 31235509; Phenotypes: Recurrent pyogenic infections, cold abscesses, High circulating IL-6 levels, High IgE; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1918 NSMCE2 Zornitza Stark Gene: nsmce2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1918 LIG1 Zornitza Stark Gene: lig1 has been classified as Green List (High Evidence).
Mendeliome v0.1918 LIG1 Zornitza Stark Classified gene: LIG1 as Green List (high evidence)
Mendeliome v0.1918 LIG1 Zornitza Stark Gene: lig1 has been classified as Green List (High Evidence).
Mendeliome v0.1917 LIG1 Zornitza Stark gene: LIG1 was added
gene: LIG1 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: LIG1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LIG1 were set to 30395541
Phenotypes for gene: LIG1 were set to Combined immunodeficiency; Lymphopaenia; Hypogammaglobulinaemia; Recurrent bacterial and viral infections; Growth retardation; Sun sensitivity, radiation sensitivity; Macrocytosis
Review for gene: LIG1 was set to GREEN
Added comment: Five individuals from three families.
Sources: Expert list
Mendeliome v0.1916 POLE2 Zornitza Stark gene: POLE2 was added
gene: POLE2 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: POLE2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: POLE2 were set to 26365386
Phenotypes for gene: POLE2 were set to Combined immunodeficiency; Lymphopaenia; Lack of TRECS, absent proliferation in response to antigens; Hypoglobulinaemia; Recurrent infections, disseminated BCG infections; Autoimmunity; Facial dysmorphism
Review for gene: POLE2 was set to RED
Added comment: Single family reported with homozygous splice site variant.
Sources: Expert list
Mendeliome v0.1915 FCHO1 Zornitza Stark Gene: fcho1 has been classified as Green List (High Evidence).
Mendeliome v0.1915 FCHO1 Zornitza Stark Classified gene: FCHO1 as Green List (high evidence)
Mendeliome v0.1915 FCHO1 Zornitza Stark Gene: fcho1 has been classified as Green List (High Evidence).
Mendeliome v0.1914 FCHO1 Zornitza Stark gene: FCHO1 was added
gene: FCHO1 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: FCHO1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FCHO1 were set to 32098969; 30822429
Phenotypes for gene: FCHO1 were set to Combined immunodeficiency; T cells: low, poor proliferation; B cells: normal number; Recurrent infections (viral, mycobacteria, bacterial, fungal); lymphoproliferation; Failure to thrive; Increased activation-induced T-cell death; Defective clathrin-mediated endocytosis
Review for gene: FCHO1 was set to GREEN
Added comment: More than 10 affected individuals with bi-allelic variants in this gene reported. Functional data.
Sources: Expert list
Mendeliome v0.1913 REL Zornitza Stark Gene: rel has been classified as Red List (Low Evidence).
Mendeliome v0.1913 REL Zornitza Stark gene: REL was added
gene: REL was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: REL was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: REL were set to 31103457
Phenotypes for gene: REL were set to Combined immunodeficiency; T cells: normal, decreased memory CD4, poor proliferation; B cells: low, mostly naive, few switched memory B cells, impaired proliferation; Recurrent infections with bacteria, mycobacteria, salmonella and opportunistic organisms; Defective innate immunity
Review for gene: REL was set to RED
Added comment: Single individual from consanguineous family reported with homozygous canonical splice site variant, no functional data.
Sources: Expert list
Mendeliome v0.1912 TFRC Zornitza Stark Marked gene: TFRC as ready
Mendeliome v0.1912 TFRC Zornitza Stark Gene: tfrc has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1912 TFRC Zornitza Stark Phenotypes for gene: TFRC were changed from to Immunodeficiency 46, MIM# 616740; T cells: normal number, poor proliferation; B cells: normal number, low memory B cells; recurrent infections, neutorpaenia; thrombocytopaenia
Mendeliome v0.1911 TFRC Zornitza Stark Publications for gene: TFRC were set to
Mendeliome v0.1910 TFRC Zornitza Stark Mode of inheritance for gene: TFRC was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1909 TFRC Zornitza Stark Classified gene: TFRC as Amber List (moderate evidence)
Mendeliome v0.1909 TFRC Zornitza Stark Gene: tfrc has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1908 TFRC Zornitza Stark reviewed gene: TFRC: Rating: AMBER; Mode of pathogenicity: None; Publications: 26642240; Phenotypes: Immunodeficiency 46, MIM# 616740, T cells: normal number, poor proliferation, B cells: normal number, low memory B cells, recurrent infections, neutorpaenia, thrombocytopaenia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1908 TET2 Zornitza Stark edited their review of gene: TET2: Changed publications: 30890702, 31827242
Mendeliome v0.1908 TET2 Zornitza Stark changed review comment from: No evidence for Mendelian gene-disease association. Somatic TET2 variants are commonly found in cancers. One Finnish family reported where germline variant present 7 individuals, of whom 3 had lymphoma.; to: No evidence for Mendelian gene-disease association. Somatic TET2 variants are commonly found in cancers. One Finnish family reported where germline variant present 7 individuals, of whom 3 had lymphoma. Another French family reported with three sibs: frameshift variant and myeloid malignancies. Contribution of germline variants to malignancy risk to be established.
Mendeliome v0.1908 TET2 Zornitza Stark changed review comment from: No evidence for Mendelian gene-disease association. Somatic TET2 variants are commonly found in cancers.; to: No evidence for Mendelian gene-disease association. Somatic TET2 variants are commonly found in cancers. One Finnish family reported where germline variant present 7 individuals, of whom 3 had lymphoma.
Mendeliome v0.1908 TET2 Zornitza Stark edited their review of gene: TET2: Changed publications: 30890702
Mendeliome v0.1908 TET2 Zornitza Stark changed review comment from: No evidence for Mendelian gene-disease association.; to: No evidence for Mendelian gene-disease association. Somatic TET2 variants are commonly found in cancers.
Mendeliome v0.1908 RELA Zornitza Stark Gene: rela has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1908 RELA Zornitza Stark Classified gene: RELA as Amber List (moderate evidence)
Mendeliome v0.1908 RELA Zornitza Stark Gene: rela has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1907 RELA Zornitza Stark gene: RELA was added
gene: RELA was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: RELA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RELA were set to 28600438; 29305315
Phenotypes for gene: RELA were set to Mucocutaneous ulceration, chronic, MIM# 618287; Impaired NFkB activation; reduced production of inflammatory cytokines; autoimmune cytopaenias
Review for gene: RELA was set to AMBER
Added comment: Two families reported, somewhat different phenotypes.
Sources: Expert list
Mendeliome v0.1906 RELB Zornitza Stark Gene: relb has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1906 RELB Zornitza Stark Classified gene: RELB as Amber List (moderate evidence)
Mendeliome v0.1906 RELB Zornitza Stark Gene: relb has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1905 RELB Zornitza Stark gene: RELB was added
gene: RELB was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: RELB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RELB were set to 7834753; 26385063
Phenotypes for gene: RELB were set to Immunodeficiency 53, MIM# 617585; T cells: normal number, poor diversity, poor function; recurrent infections
Review for gene: RELB was set to AMBER
Added comment: Single family reported, functional data.
Sources: Expert list
Mendeliome v0.1904 CD247 Zornitza Stark Gene: cd247 has been classified as Red List (Low Evidence).
Mendeliome v0.1904 CD247 Zornitza Stark Phenotypes for gene: CD247 were changed from to Immunodeficiency 25, MIM# 610163; Absent T cells; Normal B cells; Normal NK cells
Mendeliome v0.1903 CD247 Zornitza Stark Publications for gene: CD247 were set to
Mendeliome v0.1902 CD247 Zornitza Stark Classified gene: CD247 as Red List (low evidence)
Mendeliome v0.1902 CD247 Zornitza Stark Gene: cd247 has been classified as Red List (Low Evidence).
Mendeliome v0.1902 CD247 Zornitza Stark Mode of inheritance for gene: CD247 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1901 CD247 Zornitza Stark reviewed gene: CD247: Rating: RED; Mode of pathogenicity: None; Publications: 16672702; Phenotypes: Immunodeficiency 25, MIM# 610163, Absent T cells, Normal B cells, Normal NK cells; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1901 NSMCE2 Tiong Tan Classified gene: NSMCE2 as Amber List (moderate evidence)
Mendeliome v0.1901 NSMCE2 Tiong Tan Added comment: Comment on list classification: Two unrelated women with good functional evidence; but no additional cases since 2014
Mendeliome v0.1901 NSMCE2 Tiong Tan Gene: nsmce2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1900 NSMCE2 Tiong Tan gene: NSMCE2 was added
gene: NSMCE2 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: NSMCE2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NSMCE2 were set to 25105364
Phenotypes for gene: NSMCE2 were set to SECKEL SYNDROME 10
Penetrance for gene: NSMCE2 were set to Complete
Review for gene: NSMCE2 was set to AMBER
Added comment: Biallelic hypomorphic variants in two unrelated women with microcephalic primordial dwarfism, insulin-resistant diabetes, fatty liver, and hypertriglyceridemia developing in childhood; and primary gonadal failure. Good quality functional evidence. No additional confirmatory cases since 2014 publication
Sources: Literature
Mendeliome v0.1899 PLEKHA5 Zornitza Stark Classified gene: PLEKHA5 as Amber List (moderate evidence)
Mendeliome v0.1899 PLEKHA5 Zornitza Stark Gene: plekha5 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1898 PLEKHA5 Zornitza Stark reviewed gene: PLEKHA5: Rating: AMBER; Mode of pathogenicity: None; Publications: 29805042; Phenotypes: cleft lip, cleft palate; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.1898 TRPA1 Zornitza Stark Marked gene: TRPA1 as ready
Mendeliome v0.1898 TRPA1 Zornitza Stark Gene: trpa1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1898 TRPA1 Zornitza Stark Classified gene: TRPA1 as Amber List (moderate evidence)
Mendeliome v0.1898 TRPA1 Zornitza Stark Gene: trpa1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1897 TRPA1 Zornitza Stark gene: TRPA1 was added
gene: TRPA1 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: TRPA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TRPA1 were set to 20547126; 16564016; 21468319; 28314413; 24778270; 24564660; 20718100
Phenotypes for gene: TRPA1 were set to Episodic pain syndrome, familial, 1, MIM# 615040
Review for gene: TRPA1 was set to AMBER
Added comment: Single family and a lot of functional data.
Sources: Expert list
Mendeliome v0.1896 PLEKHA5 Tiong Tan Gene: plekha5 has been classified as Red List (Low Evidence).
Mendeliome v0.1896 PLEKHA5 Tiong Tan gene: PLEKHA5 was added
gene: PLEKHA5 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: PLEKHA5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PLEKHA5 were set to 29805042
Phenotypes for gene: PLEKHA5 were set to cleft lip; cleft palate
Penetrance for gene: PLEKHA5 were set to Complete
Review for gene: PLEKHA5 was set to GREEN
Added comment: Sources: Literature
Mendeliome v0.1895 CNKSR1 Zornitza Stark Gene: cnksr1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1895 CNKSR1 Zornitza Stark Classified gene: CNKSR1 as Amber List (moderate evidence)
Mendeliome v0.1895 CNKSR1 Zornitza Stark Gene: cnksr1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1894 CNKSR1 Zornitza Stark gene: CNKSR1 was added
gene: CNKSR1 was added to Mendeliome. Sources: Expert Review
Mode of inheritance for gene: CNKSR1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CNKSR1 were set to 30450701; 30237576; 21937992
Phenotypes for gene: CNKSR1 were set to Intellectual disability
Review for gene: CNKSR1 was set to AMBER
Added comment: Three families reported, two as part of large cohorts reporting multiple novel genes. Note the family reported in PMID 30450701 appears to be the same family as reported in PMID 21937992. Some functional data in PMID 30450701, including Drosophila model.
Sources: Expert Review
Mendeliome v0.1893 FRMD4A Zornitza Stark Gene: frmd4a has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1893 FRMD4A Zornitza Stark Classified gene: FRMD4A as Amber List (moderate evidence)
Mendeliome v0.1893 FRMD4A Zornitza Stark Gene: frmd4a has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1892 FRMD4A Zornitza Stark gene: FRMD4A was added
gene: FRMD4A was added to Mendeliome. Sources: Expert Review
Mode of inheritance for gene: FRMD4A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FRMD4A were set to 25388005; 30214071
Phenotypes for gene: FRMD4A were set to Intellectual disability; microcephaly; Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia, MIM# 616819
Review for gene: FRMD4A was set to AMBER
Added comment: Single Bedouin Israeli family reported with homozygous variant initially. Good segregation data. No functional data. Another family reported as part of a large consanguineous microcephaly cohort, different variant.
Sources: Expert Review
Mendeliome v0.1891 NEK10 Zornitza Stark Gene: nek10 has been classified as Green List (High Evidence).
Mendeliome v0.1891 NEK10 Zornitza Stark Classified gene: NEK10 as Green List (high evidence)
Mendeliome v0.1891 NEK10 Zornitza Stark Gene: nek10 has been classified as Green List (High Evidence).
Mendeliome v0.1890 NEK10 Zornitza Stark gene: NEK10 was added
gene: NEK10 was added to Mendeliome. Sources: NHS GMS
Mode of inheritance for gene: NEK10 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NEK10 were set to 31959991
Phenotypes for gene: NEK10 were set to Primary ciliary dyskinesia; bronchiectasis
Review for gene: NEK10 was set to GREEN
Added comment: Nine individuals from 5 unrelated families, some functional data.
Sources: NHS GMS
Mendeliome v0.1889 PIGK Zornitza Stark Gene: pigk has been classified as Green List (High Evidence).
Mendeliome v0.1889 PIGK Zornitza Stark Classified gene: PIGK as Green List (high evidence)
Mendeliome v0.1889 PIGK Zornitza Stark Gene: pigk has been classified as Green List (High Evidence).
Mendeliome v0.1888 PIGK Zornitza Stark gene: PIGK was added
gene: PIGK was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: PIGK was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PIGK were set to 32220290
Phenotypes for gene: PIGK were set to Intellectual disability; seizures; cerebellar atrophy
Review for gene: PIGK was set to GREEN
Added comment: 12 individuals from 9 unrelated families reported.
Sources: Literature
Mendeliome v0.1887 ADARB1 Zornitza Stark Gene: adarb1 has been classified as Green List (High Evidence).
Mendeliome v0.1887 ADARB1 Zornitza Stark Classified gene: ADARB1 as Green List (high evidence)
Mendeliome v0.1887 ADARB1 Zornitza Stark Gene: adarb1 has been classified as Green List (High Evidence).
Mendeliome v0.1886 ADARB1 Zornitza Stark gene: ADARB1 was added
gene: ADARB1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: ADARB1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ADARB1 were set to 32220291
Phenotypes for gene: ADARB1 were set to Intellectual disability; microcephaly; seizures
Review for gene: ADARB1 was set to GREEN
Added comment: Four unrelated individuals with bi-allelic variants in this gene.
Sources: Literature
Mendeliome v0.1885 HSPB3 Zornitza Stark Gene: hspb3 has been classified as Red List (Low Evidence).
Mendeliome v0.1885 HSPB3 Zornitza Stark Phenotypes for gene: HSPB3 were changed from to Neuronopathy, distal hereditary motor, type IIC, MIM# 613376
Mendeliome v0.1884 HSPB3 Zornitza Stark Publications for gene: HSPB3 were set to
Mendeliome v0.1883 HSPB3 Zornitza Stark Mode of inheritance for gene: HSPB3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.1882 HSPB3 Zornitza Stark Classified gene: HSPB3 as Red List (low evidence)
Mendeliome v0.1882 HSPB3 Zornitza Stark Gene: hspb3 has been classified as Red List (Low Evidence).
Mendeliome v0.1881 HSPB3 Zornitza Stark reviewed gene: HSPB3: Rating: RED; Mode of pathogenicity: None; Publications: 20142617, 27549087; Phenotypes: Neuronopathy, distal hereditary motor, type IIC, MIM# 613376; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.1881 FBXO38 Zornitza Stark Gene: fbxo38 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1881 FBXO38 Zornitza Stark Phenotypes for gene: FBXO38 were changed from to Neuropathy, distal hereditary motor, type IID, 615575; dHMN/dSMA
Mendeliome v0.1880 FBXO38 Zornitza Stark Publications for gene: FBXO38 were set to
Mendeliome v0.1879 FBXO38 Zornitza Stark Mode of inheritance for gene: FBXO38 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.1878 FBXO38 Zornitza Stark Classified gene: FBXO38 as Amber List (moderate evidence)
Mendeliome v0.1878 FBXO38 Zornitza Stark Gene: fbxo38 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1877 FBXO38 Zornitza Stark reviewed gene: FBXO38: Rating: AMBER; Mode of pathogenicity: None; Publications: 24207122, 31420593; Phenotypes: Neuronopathy, distal hereditary motor, type IID, 615575, dHMN/dSMA; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.1877 DRP2 Zornitza Stark Gene: drp2 has been classified as Green List (High Evidence).
Mendeliome v0.1877 DRP2 Zornitza Stark Classified gene: DRP2 as Green List (high evidence)
Mendeliome v0.1877 DRP2 Zornitza Stark Gene: drp2 has been classified as Green List (High Evidence).
Mendeliome v0.1876 DRP2 Zornitza Stark gene: DRP2 was added
gene: DRP2 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: DRP2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: DRP2 were set to 26227883; 11430802; 31217940; 22764250; 29473052
Phenotypes for gene: DRP2 were set to Charcot Marie Tooth, intermediate X-linked; HMSN
Review for gene: DRP2 was set to GREEN
Added comment: Three unrelated families, functional data.
Sources: Expert list
Mendeliome v0.1875 DGAT2 Zornitza Stark Marked gene: DGAT2 as ready
Mendeliome v0.1875 DGAT2 Zornitza Stark Gene: dgat2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1875 DGAT2 Zornitza Stark Classified gene: DGAT2 as Amber List (moderate evidence)
Mendeliome v0.1875 DGAT2 Zornitza Stark Gene: dgat2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1874 DGAT2 Zornitza Stark gene: DGAT2 was added
gene: DGAT2 was added to Mendeliome. Sources: Expert Review
Mode of inheritance for gene: DGAT2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DGAT2 were set to 26786738
Phenotypes for gene: DGAT2 were set to axonal Charcot-Marie-Tooth disease
Review for gene: DGAT2 was set to AMBER
Added comment: Single family (father and son) reported, with supporting in vitro functional assays and a zebrafish model.
Sources: Expert Review
Mendeliome v0.1873 ERLIN1 Bryony Thompson Classified gene: ERLIN1 as Green List (high evidence)
Mendeliome v0.1873 ERLIN1 Bryony Thompson Gene: erlin1 has been classified as Green List (High Evidence).
Mendeliome v0.1872 ERLIN1 Bryony Thompson gene: ERLIN1 was added
gene: ERLIN1 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: ERLIN1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ERLIN1 were set to 24482476
Phenotypes for gene: ERLIN1 were set to Spastic paraplegia 62 MIM#615681
Review for gene: ERLIN1 was set to GREEN
Added comment: Three unrelated consanguineous families with early onset pure HSP.
Sources: Expert list
Mendeliome v0.1871 BTBD7 Zornitza Stark Marked gene: BTBD7 as ready
Mendeliome v0.1871 BTBD7 Zornitza Stark Added comment: Comment when marking as ready: Agreed, no evidence currently for Mendelian gene-disease association.
Mendeliome v0.1871 BTBD7 Zornitza Stark Gene: btbd7 has been classified as Red List (Low Evidence).
Mendeliome v0.1871 BTBD7 Zornitza Stark Classified gene: BTBD7 as Red List (low evidence)
Mendeliome v0.1871 BTBD7 Zornitza Stark Gene: btbd7 has been classified as Red List (Low Evidence).
Mendeliome v0.1870 NOS1AP Zornitza Stark Added comment: Comment when marking as ready: Agreed, cannot find evidence for Mendelian gene-disease association.
Mendeliome v0.1870 NOS1AP Zornitza Stark Gene: nos1ap has been classified as Red List (Low Evidence).
Mendeliome v0.1870 NOS1AP Zornitza Stark Classified gene: NOS1AP as Red List (low evidence)
Mendeliome v0.1870 NOS1AP Zornitza Stark Gene: nos1ap has been classified as Red List (Low Evidence).
Mendeliome v0.1869 ARID2 Zornitza Stark Gene: arid2 has been classified as Green List (High Evidence).
Mendeliome v0.1869 ARID2 Zornitza Stark Phenotypes for gene: ARID2 were changed from to Coffin-Siris syndrome 6, MIM#617808
Mendeliome v0.1868 ARID2 Zornitza Stark Publications for gene: ARID2 were set to 30838730
Mendeliome v0.1867 ARID2 Zornitza Stark Publications for gene: ARID2 were set to
Mendeliome v0.1866 ARID2 Zornitza Stark Mode of inheritance for gene: ARID2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.1865 DYNC1H1 Zornitza Stark Gene: dync1h1 has been classified as Green List (High Evidence).
Mendeliome v0.1865 DYNC1H1 Zornitza Stark Phenotypes for gene: DYNC1H1 were changed from to Charcot-Marie-Tooth disease, axonal, type 20; Mental retardation, autosomal dominant 13; Spinal muscular atrophy, lower extremity-predominant 1
Mendeliome v0.1864 DYNC1H1 Zornitza Stark Publications for gene: DYNC1H1 were set to
Mendeliome v0.1863 DYNC1H1 Zornitza Stark Mode of pathogenicity for gene: DYNC1H1 was changed from to Other
Mendeliome v0.1862 DYNC1H1 Zornitza Stark Mode of inheritance for gene: DYNC1H1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.1861 PQBP1 Zornitza Stark Gene: pqbp1 has been classified as Green List (High Evidence).
Mendeliome v0.1861 PQBP1 Zornitza Stark Phenotypes for gene: PQBP1 were changed from to Renpenning syndrome, MIM#309500
Mendeliome v0.1860 PQBP1 Zornitza Stark Publications for gene: PQBP1 were set to
Mendeliome v0.1859 PQBP1 Zornitza Stark Mode of pathogenicity for gene: PQBP1 was changed from to Other
Mendeliome v0.1858 PQBP1 Zornitza Stark Mode of inheritance for gene: PQBP1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.1857 CHD3 Zornitza Stark Added comment: Comment when marking as ready: Over 30 unrelated individuals reported.
Mendeliome v0.1857 CHD3 Zornitza Stark Gene: chd3 has been classified as Green List (High Evidence).
Mendeliome v0.1857 CHD3 Zornitza Stark Phenotypes for gene: CHD3 were changed from to Snijders Blok-Campeau syndrome (618205)
Mendeliome v0.1856 CHD3 Zornitza Stark Publications for gene: CHD3 were set to
Mendeliome v0.1855 CHD3 Zornitza Stark Mode of pathogenicity for gene: CHD3 was changed from to Other
Mendeliome v0.1854 CHD3 Zornitza Stark Mode of inheritance for gene: CHD3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.1853 DLG3 Zornitza Stark Gene: dlg3 has been classified as Green List (High Evidence).
Mendeliome v0.1853 DLG3 Zornitza Stark Phenotypes for gene: DLG3 were changed from to Mental retardation, X-linked 90, MIM#300850
Mendeliome v0.1852 DLG3 Zornitza Stark Publications for gene: DLG3 were set to
Mendeliome v0.1851 DLG3 Zornitza Stark Mode of inheritance for gene: DLG3 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.1850 FBN2 Zornitza Stark Added comment: Comment when marking as ready: The gene-disease association with Contractual arachnodactyly is extremely well established. The gene-disease association with macular degeneration much less so. There are ~4 families reported in the literature, and some discussion about whether the contribution of rare FBN2 variants in this context are under a 'monogenic' or 'polygenic' model.
Mendeliome v0.1850 FBN2 Zornitza Stark Gene: fbn2 has been classified as Green List (High Evidence).
Mendeliome v0.1850 FBN2 Zornitza Stark Publications for gene: FBN2 were set to 19473076; 11068201
Mendeliome v0.1849 FBN2 Zornitza Stark Phenotypes for gene: FBN2 were changed from to Contractural arachnodactyly, congenital 121050; Macular degeneration, early-onset 616118
Mendeliome v0.1848 FBN2 Zornitza Stark Publications for gene: FBN2 were set to
Mendeliome v0.1847 FBN2 Zornitza Stark Mode of inheritance for gene: FBN2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.1846 BTBD7 Elena Savva reviewed gene: BTBD7: Rating: RED; Mode of pathogenicity: Other; Publications: ; Phenotypes: ; Mode of inheritance: Unknown
Mendeliome v0.1846 AGTPBP1 Zornitza Stark Marked gene: AGTPBP1 as ready
Mendeliome v0.1846 AGTPBP1 Zornitza Stark Gene: agtpbp1 has been classified as Green List (High Evidence).
Mendeliome v0.1846 AGTPBP1 Zornitza Stark Classified gene: AGTPBP1 as Green List (high evidence)
Mendeliome v0.1846 AGTPBP1 Zornitza Stark Gene: agtpbp1 has been classified as Green List (High Evidence).
Mendeliome v0.1845 AGTPBP1 Zornitza Stark gene: AGTPBP1 was added
gene: AGTPBP1 was added to Mendeliome. Sources: NHS GMS
Mode of inheritance for gene: AGTPBP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AGTPBP1 were set to 30420557
Phenotypes for gene: AGTPBP1 were set to Early onset cerebellar atrophy, developmental delay, and feeding and respiratory difficulties, severe motor neuronopathy; Neurodegeneration, childhood-onset, with cerebellar atrophy, 618276
Review for gene: AGTPBP1 was set to GREEN
Added comment: Thirteen individuals with bi-allelic variants in this gene, complex neurological phenotype of dev delay/ID, cerebellar atrophy and neuropathy, severe progressive course in six.
Sources: NHS GMS
Mendeliome v0.1844 ADGRG6 Zornitza Stark Publications for gene: ADGRG6 were set to 30549416
Mendeliome v0.1843 ADGRG6 Zornitza Stark Classified gene: ADGRG6 as Green List (high evidence)
Mendeliome v0.1843 ADGRG6 Zornitza Stark Gene: adgrg6 has been classified as Green List (High Evidence).
Mendeliome v0.1842 ADGRG6 Zornitza Stark edited their review of gene: ADGRG6: Added comment: Three families reported originally with severe prenatal-onset arthrogryposis (PMID: 26004201), one family with more complex neurological phenotype (PMID:30549416).; Changed rating: GREEN; Changed publications: 30549416, 26004201; Changed phenotypes: Lethal congenital contracture syndrome 9, OMIM #616503; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1842 NOS1AP Crystle Lee reviewed gene: NOS1AP: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.1842 ARID2 Elena Savva reviewed gene: ARID2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID:30838730; Phenotypes: Coffin-Siris syndrome 6; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Mendeliome v0.1842 DYNC1H1 Elena Savva reviewed gene: DYNC1H1: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 25512093, 28196890; Phenotypes: Charcot-Marie-Tooth disease, axonal, type 20, Mental retardation, autosomal dominant 13, Spinal muscular atrophy, lower extremity-predominant 1; Mode of inheritance: None
Mendeliome v0.1842 PQBP1 Elena Savva reviewed gene: PQBP1: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID:31840929, 14634649, 20410308; Phenotypes: Renpenning syndrome; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males); Current diagnostic: yes
Mendeliome v0.1842 CHD3 Elena Savva reviewed gene: CHD3: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID:30397230; Phenotypes: Snijders Blok-Campeau syndrome (618205); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mendeliome v0.1842 DLG3 Elena Savva reviewed gene: DLG3: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID 28777483; Phenotypes: Mental retardation, X-linked 90; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.1842 FBN2 Elena Savva reviewed gene: FBN2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID 19473076, 11068201; Phenotypes: Contractural arachnodactyly, congenital 121050, Macular degeneration, early-onset 616118; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Mendeliome v0.1842 EIF2AK2 Zornitza Stark Gene: eif2ak2 has been classified as Green List (High Evidence).
Mendeliome v0.1842 EIF2AK2 Zornitza Stark Classified gene: EIF2AK2 as Green List (high evidence)
Mendeliome v0.1842 EIF2AK2 Zornitza Stark Gene: eif2ak2 has been classified as Green List (High Evidence).
Mendeliome v0.1841 EIF2AK2 Zornitza Stark gene: EIF2AK2 was added
gene: EIF2AK2 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: EIF2AK2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: EIF2AK2 were set to 32197074
Phenotypes for gene: EIF2AK2 were set to Intellectual disability; white matter abnormalities; ataxia; regression with febrile illness
Review for gene: EIF2AK2 was set to GREEN
Added comment: Eight individuals with de novo variants and complex neurodevelopmental phenotype.
Sources: Literature
Mendeliome v0.1840 EIF2AK1 Zornitza Stark Gene: eif2ak1 has been classified as Red List (Low Evidence).
Mendeliome v0.1840 EIF2AK1 Zornitza Stark gene: EIF2AK1 was added
gene: EIF2AK1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: EIF2AK1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: EIF2AK1 were set to 32197074
Phenotypes for gene: EIF2AK1 were set to Intellectual disability; white matter abnormalities
Review for gene: EIF2AK1 was set to RED
Added comment: Single individual reported with de novo variant in this gene.
Sources: Literature
Mendeliome v0.1839 NOVA2 Zornitza Stark Gene: nova2 has been classified as Green List (High Evidence).
Mendeliome v0.1839 NOVA2 Zornitza Stark Classified gene: NOVA2 as Green List (high evidence)
Mendeliome v0.1839 NOVA2 Zornitza Stark Gene: nova2 has been classified as Green List (High Evidence).
Mendeliome v0.1838 NOVA2 Zornitza Stark gene: NOVA2 was added
gene: NOVA2 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: NOVA2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NOVA2 were set to 32197073
Phenotypes for gene: NOVA2 were set to Intellectual disability; autism; hypotonia; spasticity; ataxia
Mode of pathogenicity for gene: NOVA2 was set to Other
Review for gene: NOVA2 was set to GREEN
Added comment: Six individuals with de novo frameshift variants resulting in C-terminal extension suggesting partial LoF as mechanism.
Sources: Literature
Mendeliome v0.1837 GNB2 Sue White Classified gene: GNB2 as Amber List (moderate evidence)
Mendeliome v0.1837 GNB2 Sue White Gene: gnb2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1836 GNB2 Sue White gene: GNB2 was added
gene: GNB2 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: GNB2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GNB2 were set to 31698099
Phenotypes for gene: GNB2 were set to intellectual disability; dysmorphic features
Penetrance for gene: GNB2 were set to Complete
Review for gene: GNB2 was set to AMBER
Added comment: single report of patient with de novo missense variant in GNB2 and intellectual disability. Emerging evidence of other de no missense variants in GNB2 and ID
Sources: Literature
Mendeliome v0.1835 NRROS Sue White Classified gene: NRROS as Green List (high evidence)
Mendeliome v0.1835 NRROS Sue White Gene: nrros has been classified as Green List (High Evidence).
Mendeliome v0.1834 NRROS Sue White gene: NRROS was added
gene: NRROS was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: NRROS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NRROS were set to 32100099; 32197075
Phenotypes for gene: NRROS were set to neurodegeneration; intracranial calcification; epilepsy
Penetrance for gene: NRROS were set to Complete
Review for gene: NRROS was set to GREEN
Added comment: normal development or mild developmental delay until onset of regression around age of 1 concurrent with epilepsy
biallelic LOF mutations with functional evidence of pathogenicity
Sources: Literature
Mendeliome v0.1833 CNOT3 Zornitza Stark Marked gene: CNOT3 as ready
Mendeliome v0.1833 CNOT3 Zornitza Stark Gene: cnot3 has been classified as Green List (High Evidence).
Mendeliome v0.1833 CNOT3 Zornitza Stark Phenotypes for gene: CNOT3 were changed from to Intellectual developmental disorder with speech delay, autism, and dysmorphic facies, MIM# 618672
Mendeliome v0.1832 CNOT3 Zornitza Stark Publications for gene: CNOT3 were set to
Mendeliome v0.1831 CNOT3 Zornitza Stark Mode of inheritance for gene: CNOT3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.1830 CNOT3 Zornitza Stark reviewed gene: CNOT3: Rating: GREEN; Mode of pathogenicity: None; Publications: 31201375; Phenotypes: Intellectual developmental disorder with speech delay, autism, and dysmorphic facies, MIM# 618672; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.1830 CBS Zornitza Stark Gene: cbs has been classified as Green List (High Evidence).
Mendeliome v0.1830 CBS Zornitza Stark Phenotypes for gene: CBS were changed from to Homocystinuria, B6-responsive and nonresponsive types, 236200; Thrombosis, hyperhomocysteinemic, 236200
Mendeliome v0.1829 CBS Zornitza Stark Publications for gene: CBS were set to
Mendeliome v0.1828 CBS Zornitza Stark Mode of inheritance for gene: CBS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1827 CBS Kristin Rigbye reviewed gene: CBS: Rating: GREEN; Mode of pathogenicity: None; Publications: 7506602, 10338090; Phenotypes: Homocystinuria, B6-responsive and nonresponsive types, 236200, Thrombosis, hyperhomocysteinemic, 236200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1827 HTR3C Zornitza Stark Marked gene: HTR3C as ready
Mendeliome v0.1827 HTR3C Zornitza Stark Added comment: Comment when marking as ready: Agree no evidence for Mendelian gene-disease association currently.
Mendeliome v0.1827 HTR3C Zornitza Stark Gene: htr3c has been classified as Red List (Low Evidence).
Mendeliome v0.1827 HTR3C Zornitza Stark Publications for gene: HTR3C were set to
Mendeliome v0.1826 HTR3C Zornitza Stark Classified gene: HTR3C as Red List (low evidence)
Mendeliome v0.1826 HTR3C Zornitza Stark Gene: htr3c has been classified as Red List (Low Evidence).
Mendeliome v0.1825 ZFP42 Zornitza Stark Gene: zfp42 has been classified as Red List (Low Evidence).
Mendeliome v0.1825 ZFP42 Zornitza Stark Classified gene: ZFP42 as Red List (low evidence)
Mendeliome v0.1825 ZFP42 Zornitza Stark Gene: zfp42 has been classified as Red List (Low Evidence).
Mendeliome v0.1824 ZFP42 Elena Savva reviewed gene: ZFP42: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: Unknown
Mendeliome v0.1824 SLC25A21 Zornitza Stark Gene: slc25a21 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1824 SLC25A21 Zornitza Stark Classified gene: SLC25A21 as Amber List (moderate evidence)
Mendeliome v0.1824 SLC25A21 Zornitza Stark Gene: slc25a21 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1823 HTR3C Elena Savva reviewed gene: HTR3C: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 19035560, 18681779; Phenotypes: ; Mode of inheritance: Unknown
Mendeliome v0.1823 SLC25A21 Zornitza Stark gene: SLC25A21 was added
gene: SLC25A21 was added to Mendeliome. Sources: NHS GMS
Mode of inheritance for gene: SLC25A21 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC25A21 were set to 29517768
Phenotypes for gene: SLC25A21 were set to Mitochondrial DNA depletion syndrome-18, MIM#618811
Review for gene: SLC25A21 was set to AMBER
Added comment: One case with a homozygous variant and functional assays showing mitochondrial dysfunction.
Sources: NHS GMS
Mendeliome v0.1822 SLC25A10 Zornitza Stark Gene: slc25a10 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1822 SLC25A10 Zornitza Stark Classified gene: SLC25A10 as Amber List (moderate evidence)
Mendeliome v0.1822 SLC25A10 Zornitza Stark Gene: slc25a10 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1821 SLC25A10 Zornitza Stark gene: SLC25A10 was added
gene: SLC25A10 was added to Mendeliome. Sources: NHS GMS
Mode of inheritance for gene: SLC25A10 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC25A10 were set to 29211846
Phenotypes for gene: SLC25A10 were set to Intractable epileptic encephalopathy
Review for gene: SLC25A10 was set to AMBER
Added comment: One case with intractable epileptic encephalopathy with complex I deficiency, with biallelic variants. Yeast SLC25A10 ortholog lack-of-function causes impairment in mitochondrial respiration, reduced mtDNA copy number and oxidative stress vulnerability.
Sources: NHS GMS
Mendeliome v0.1820 QARS Zornitza Stark Gene: qars has been classified as Green List (High Evidence).
Mendeliome v0.1820 QARS Zornitza Stark Phenotypes for gene: QARS were changed from to Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy, MIM# 615760
Mendeliome v0.1819 QARS Zornitza Stark Publications for gene: QARS were set to Encodes t-RNA synthetase, over 20 individuals reported, include in mito panel in line with other t-RNA synthetases.
Mendeliome v0.1818 QARS Zornitza Stark Publications for gene: QARS were set to
Mendeliome v0.1817 QARS Zornitza Stark Mode of inheritance for gene: QARS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1816 QARS Zornitza Stark reviewed gene: QARS: Rating: GREEN; Mode of pathogenicity: None; Publications: 28620870, 25471517, 25432320, 25041233, 24656866, 32042906; Phenotypes: Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy, MIM# 615760; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1816 PTCD3 Zornitza Stark Marked gene: PTCD3 as ready
Mendeliome v0.1816 PTCD3 Zornitza Stark Gene: ptcd3 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1816 PTCD3 Zornitza Stark Classified gene: PTCD3 as Amber List (moderate evidence)
Mendeliome v0.1816 PTCD3 Zornitza Stark Gene: ptcd3 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1815 PTCD3 Zornitza Stark gene: PTCD3 was added
gene: PTCD3 was added to Mendeliome. Sources: NHS GMS
Mode of inheritance for gene: PTCD3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PTCD3 were set to 30607703; 19427859
Phenotypes for gene: PTCD3 were set to Intellectual disability; optic atrophy; Leigh-like syndrome
Review for gene: PTCD3 was set to AMBER
Added comment: One compound heterozygote case and functional assays. Essential subunit of oxidative phosphorylation (OXPHOS) complexes.
Sources: NHS GMS
Mendeliome v0.1814 PTCD1 Zornitza Stark gene: PTCD1 was added
gene: PTCD1 was added to Mendeliome. Sources: NHS GMS
Mode of inheritance for gene: PTCD1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PTCD1 were set to 25058219
Phenotypes for gene: PTCD1 were set to Cardiomyopathy
Review for gene: PTCD1 was set to RED
Added comment: Single case reported with no functional characterisation. Biochemical analyses of heart tissue identified global COX defect. No OMIM phenotype.
Sources: NHS GMS
Mendeliome v0.1813 PNPLA4 Zornitza Stark Gene: pnpla4 has been classified as Red List (Low Evidence).
Mendeliome v0.1813 PNPLA4 Zornitza Stark Publications for gene: PNPLA4 were set to
Mendeliome v0.1812 PNPLA4 Zornitza Stark Mode of inheritance for gene: PNPLA4 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.1811 PNPLA4 Zornitza Stark Classified gene: PNPLA4 as Red List (low evidence)
Mendeliome v0.1811 PNPLA4 Zornitza Stark Gene: pnpla4 has been classified as Red List (Low Evidence).
Mendeliome v0.1810 PNPLA4 Zornitza Stark edited their review of gene: PNPLA4: Changed rating: RED
Mendeliome v0.1810 OXA1L Zornitza Stark Gene: oxa1l has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1810 OXA1L Zornitza Stark Classified gene: OXA1L as Amber List (moderate evidence)
Mendeliome v0.1810 OXA1L Zornitza Stark Gene: oxa1l has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1809 OXA1L Zornitza Stark gene: OXA1L was added
gene: OXA1L was added to Mendeliome. Sources: NHS GMS
Mode of inheritance for gene: OXA1L was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: OXA1L were set to 30201738; 16435202
Phenotypes for gene: OXA1L were set to Encephalopathy; hypotonia; developmental delay
Review for gene: OXA1L was set to AMBER
Added comment: Single family reported with biochemical and molecular analyses of patient skeletal muscle and fibroblasts. In vitro functional assays in human cell lines, Drosophila model, and yeast-based assays. Loss of function affects oxidative phosphorylation complexes IV and V.
Sources: NHS GMS
Mendeliome v0.1808 NSUN3 Zornitza Stark Gene: nsun3 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1808 NSUN3 Zornitza Stark Classified gene: NSUN3 as Amber List (moderate evidence)
Mendeliome v0.1808 NSUN3 Zornitza Stark Gene: nsun3 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1807 NSUN3 Zornitza Stark gene: NSUN3 was added
gene: NSUN3 was added to Mendeliome. Sources: NHS GMS
Mode of inheritance for gene: NSUN3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NSUN3 were set to 27356879
Phenotypes for gene: NSUN3 were set to combined mitochondrial respiratory chain complex deficiency
Review for gene: NSUN3 was set to AMBER
Added comment: A single compound heterozygous case. Patient-derived fibroblasts exhibited severe defects in mitochondrial translation that can be rescued by exogenous expression of NSun3. In vitro functional assays also conducted.
Sources: NHS GMS
Mendeliome v0.1806 NDUFB10 Zornitza Stark Gene: ndufb10 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1806 NDUFB10 Zornitza Stark Classified gene: NDUFB10 as Amber List (moderate evidence)
Mendeliome v0.1806 NDUFB10 Zornitza Stark Gene: ndufb10 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1805 NDUFB10 Zornitza Stark gene: NDUFB10 was added
gene: NDUFB10 was added to Mendeliome. Sources: NHS GMS
Mode of inheritance for gene: NDUFB10 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NDUFB10 were set to 28040730; 32025618
Phenotypes for gene: NDUFB10 were set to fatal infantile lactic acidosis; cardiomyopathy
Review for gene: NDUFB10 was set to AMBER
Added comment: Single compound heterozygote case and mitochondrial phenotype. Assays of respiratory chain enzyme activities and functions in patient tissues/fibroblasts and in vitro functional assays. Plant model system supporting mitochondrial complex I dysfunction.
Sources: NHS GMS
Mendeliome v0.1804 NDUFA4 Zornitza Stark Classified gene: NDUFA4 as Green List (high evidence)
Mendeliome v0.1804 NDUFA4 Zornitza Stark Gene: ndufa4 has been classified as Green List (High Evidence).
Mendeliome v0.1803 NDUFA4 Zornitza Stark changed review comment from: Single family and a lot of functional data. Encodes a complex IV subunit.; to: Single family and a lot of functional data. Unpublished data on another family. Encodes a complex IV subunit.
Mendeliome v0.1803 NDUFA4 Zornitza Stark edited their review of gene: NDUFA4: Changed rating: GREEN
Mendeliome v0.1803 MRPS14 Zornitza Stark Gene: mrps14 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1803 MRPS14 Zornitza Stark Classified gene: MRPS14 as Amber List (moderate evidence)
Mendeliome v0.1803 MRPS14 Zornitza Stark Gene: mrps14 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1802 MRPS14 Zornitza Stark edited their review of gene: MRPS14: Changed rating: AMBER; Changed phenotypes: Combined oxidative phosphorylation deficiency 38, MIM# 618378
Mendeliome v0.1802 MRM2 Zornitza Stark Gene: mrm2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1802 MRM2 Zornitza Stark Classified gene: MRM2 as Amber List (moderate evidence)
Mendeliome v0.1802 MRM2 Zornitza Stark Gene: mrm2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1801 MRM2 Zornitza Stark gene: MRM2 was added
gene: MRM2 was added to Mendeliome. Sources: NHS GMS
Mode of inheritance for gene: MRM2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MRM2 were set to 28973171
Phenotypes for gene: MRM2 were set to MELAS-like
Review for gene: MRM2 was set to AMBER
Added comment: Single individual reported plus functional data. MRM2 encodes an enzyme responsible for 2'-O-methyl modification at position U1369 in the human mitochondrial 16S rRNA.
Sources: NHS GMS
Mendeliome v0.1800 MRPL3 Zornitza Stark Classified gene: MRPL3 as Green List (high evidence)
Mendeliome v0.1800 MRPL3 Zornitza Stark Gene: mrpl3 has been classified as Green List (High Evidence).
Mendeliome v0.1799 MRPL3 Zornitza Stark changed review comment from: 1 French family with 4 sibs with severe mitochondrial disorder - compound heterozygous mutations in the MRPL3 gene, no functional studies. 1 male infant with a severe mitochondrial disorder - compound heterozygous mutations in the MRPL3 gene, no functional studies.; to: 1 French family with 4 sibs with severe mitochondrial disorder - compound heterozygous mutations in the MRPL3 gene, some functional studies. 1 male infant with a severe mitochondrial disorder - compound heterozygous mutations in the MRPL3 gene, no functional studies.
Mendeliome v0.1799 MRPL3 Zornitza Stark edited their review of gene: MRPL3: Changed rating: GREEN
Mendeliome v0.1799 IDH3A Zornitza Stark Gene: idh3a has been classified as Green List (High Evidence).
Mendeliome v0.1799 IDH3A Zornitza Stark Classified gene: IDH3A as Green List (high evidence)
Mendeliome v0.1799 IDH3A Zornitza Stark Gene: idh3a has been classified as Green List (High Evidence).
Mendeliome v0.1798 IDH3A Zornitza Stark gene: IDH3A was added
gene: IDH3A was added to Mendeliome. Sources: NHS GMS
Mode of inheritance for gene: IDH3A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IDH3A were set to 31012789; 30478029; 30058936; 28412069
Phenotypes for gene: IDH3A were set to Retinitis pigmentosa
Review for gene: IDH3A was set to GREEN
Added comment: Six unrelated families reported with retinitis pigmentosa. Mouse model.
Sources: NHS GMS
Mendeliome v0.1797 GATC Zornitza Stark Marked gene: GATC as ready
Mendeliome v0.1797 GATC Zornitza Stark Gene: gatc has been classified as Red List (Low Evidence).
Mendeliome v0.1797 GATC Zornitza Stark gene: GATC was added
gene: GATC was added to Mendeliome. Sources: NHS GMS
Mode of inheritance for gene: GATC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GATC were set to 30283131
Phenotypes for gene: GATC were set to Mitochondrial cardiomyopathy
Review for gene: GATC was set to RED
Added comment: Two families with 6 affected individuals reported; same homozygous variant.
Sources: NHS GMS
Mendeliome v0.1796 GATB Zornitza Stark Marked gene: GATB as ready
Mendeliome v0.1796 GATB Zornitza Stark Gene: gatb has been classified as Red List (Low Evidence).
Mendeliome v0.1796 GATB Zornitza Stark gene: GATB was added
gene: GATB was added to Mendeliome. Sources: NHS GMS
Mode of inheritance for gene: GATB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GATB were set to 30283131
Phenotypes for gene: GATB were set to Mitochondrial cardiomyopathy
Review for gene: GATB was set to RED
Added comment: Single family reported with two affected siblings
Sources: NHS GMS
Mendeliome v0.1795 EFTUD2 Elena Savva reviewed gene: EFTUD2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mandibulofacial dysostosis, Guion-Almeida type 610536; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mendeliome v0.1795 PAX1 Elena Savva reviewed gene: PAX1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 29681087, 28657137, 23851939; Phenotypes: ?Otofaciocervical syndrome 2; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1795 SHANK2 Elena Savva reviewed gene: SHANK2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30072871, 30911184; Phenotypes: {Autism susceptibility 17}, Autism spectrum disorder with or without intellectual disability; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mendeliome v0.1795 IFT172 Elena Savva reviewed gene: IFT172: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 26763875; Phenotypes: Retinitis pigmentosa 71 616394, Short-rib thoracic dysplasia 10 with or without polydactyly - 615630, Bardet-Biedl syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1795 FECH Zornitza Stark Added comment: Comment when marking as ready: Evidence for dominant disease is limited. Please note there is a common, hypomorphic deep intronic variant, IVS3-48T-C, as well as an exon 10 deletion reported.
Mendeliome v0.1795 FECH Zornitza Stark Gene: fech has been classified as Green List (High Evidence).
Mendeliome v0.1795 FECH Zornitza Stark Tag SV/CNV tag was added to gene: FECH.
Mendeliome v0.1795 FECH Zornitza Stark Phenotypes for gene: FECH were changed from to Protoporphyria, erythropoietic, 1 177000 AR
Mendeliome v0.1794 FECH Zornitza Stark Publications for gene: FECH were set to
Mendeliome v0.1793 FECH Zornitza Stark Mode of inheritance for gene: FECH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1792 FECH Zornitza Stark Tag deep intronic tag was added to gene: FECH.
Mendeliome v0.1792 ADAM17 Zornitza Stark Added comment: Comment when marking as ready: Two families and a mouse model.
Mendeliome v0.1792 ADAM17 Zornitza Stark Gene: adam17 has been classified as Green List (High Evidence).
Mendeliome v0.1792 ADAM17 Zornitza Stark Phenotypes for gene: ADAM17 were changed from to Inflammatory neonatal-onset skin and bowel disease, MIM#614328
Mendeliome v0.1791 ADAM17 Zornitza Stark Publications for gene: ADAM17 were set to
Mendeliome v0.1790 ADAM17 Zornitza Stark Mode of inheritance for gene: ADAM17 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1789 ADAM17 Zornitza Stark Classified gene: ADAM17 as Green List (high evidence)
Mendeliome v0.1789 ADAM17 Zornitza Stark Gene: adam17 has been classified as Green List (High Evidence).
Mendeliome v0.1788 ZNF462 Zornitza Stark Added comment: Comment when marking as ready: Multiple congenital anomaly syndrome characterised by variable but usually mild global developmental delay and common craniofacial abnormalities, including ptosis, abnormal head shape, downslanting palpebral fissures, epicanthal folds, arched eyebrows, and short upturned nose. Many patients have hypotonia and feeding difficulties. A few patients show agenesis of the corpus callosum on brain imaging. Most cases occur sporadically, but there are rare familial cases that show highly variable expressivity in the phenotypic manifestations.
Mendeliome v0.1788 ZNF462 Zornitza Stark Gene: znf462 has been classified as Green List (High Evidence).
Mendeliome v0.1788 ZNF462 Zornitza Stark Publications for gene: ZNF462 were set to 28513610
Mendeliome v0.1787 ZNF462 Zornitza Stark Phenotypes for gene: ZNF462 were changed from to Weiss-Kruszka syndrome, MIM#618619
Mendeliome v0.1786 ZNF462 Zornitza Stark Publications for gene: ZNF462 were set to
Mendeliome v0.1785 ZNF462 Zornitza Stark Mode of inheritance for gene: ZNF462 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.1784 HCFC1 Zornitza Stark Gene: hcfc1 has been classified as Green List (High Evidence).
Mendeliome v0.1784 HCFC1 Zornitza Stark Phenotypes for gene: HCFC1 were changed from to Mental retardation, X-linked 3 (methylmalonic acidemia and homocysteinemia, cblX type ) 309541
Mendeliome v0.1783 HCFC1 Zornitza Stark Publications for gene: HCFC1 were set to
Mendeliome v0.1782 HCFC1 Zornitza Stark Mode of inheritance for gene: HCFC1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.1781 TFAM Zornitza Stark gene: TFAM was added
gene: TFAM was added to Mendeliome. Sources: NHS GMS
Mode of inheritance for gene: TFAM was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TFAM were set to 27448789; 29021295; 9500544
Phenotypes for gene: TFAM were set to Mitochondrial DNA depletion syndrome 15 (hepatocerebral type) MIM#617156
Review for gene: TFAM was set to AMBER
Added comment: One consanguineous family segregates a homozygous variant. Tfam knockout mouse has a mitochondrial cardiomyopathy phenotype and severe mtDNA depletion with abolished oxidative phosphorylation.
Sources: NHS GMS
Mendeliome v0.1780 TIMM22 Zornitza Stark Marked gene: TIMM22 as ready
Mendeliome v0.1780 TIMM22 Zornitza Stark Gene: timm22 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1780 TIMM22 Zornitza Stark Classified gene: TIMM22 as Amber List (moderate evidence)
Mendeliome v0.1780 TIMM22 Zornitza Stark Gene: timm22 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1779 TIMM22 Zornitza Stark gene: TIMM22 was added
gene: TIMM22 was added to Mendeliome. Sources: NHS GMS
Mode of inheritance for gene: TIMM22 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TIMM22 were set to 30452684
Phenotypes for gene: TIMM22 were set to mitochondrial myopathy; hypotonia; gastroesophageal reflux disease
Review for gene: TIMM22 was set to AMBER
Added comment: One compound heterozygote case identified with supporting in vitro and patient cell functional assays.
Sources: NHS GMS
Mendeliome v0.1778 TIMMDC1 Zornitza Stark Marked gene: TIMMDC1 as ready
Mendeliome v0.1778 TIMMDC1 Zornitza Stark Gene: timmdc1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1778 TIMMDC1 Zornitza Stark Tag deep intronic tag was added to gene: TIMMDC1.
Mendeliome v0.1778 TIMMDC1 Zornitza Stark Classified gene: TIMMDC1 as Amber List (moderate evidence)
Mendeliome v0.1778 TIMMDC1 Zornitza Stark Gene: timmdc1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1777 TIMMDC1 Zornitza Stark gene: TIMMDC1 was added
gene: TIMMDC1 was added to Mendeliome. Sources: NHS GMS
Mode of inheritance for gene: TIMMDC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TIMMDC1 were set to 28604674; 30981218
Phenotypes for gene: TIMMDC1 were set to Mitochondrial complex I deficiency, nuclear type 31 MIM#618251
Review for gene: TIMMDC1 was set to AMBER
Added comment: A deep intronic variant (c.597-1340A>G, only detectable by WGS) that causes a splicing aberration was identified in a homozygous state in 3 unrelated cases from different ethnic backgrounds. A patient with Leigh-like syndrome had a homozygous stopgain variant in PDHX and a homozygous stopgain variant in TIMMDC1 (p.Arg225*). The TIMMDC1 mutant protein could still rescue complex I assembly in TIMMDC1 knockout cells and the patient’s clinical phenotype was not clearly distinct from that of other patients with the same PDHX defect.
Sources: NHS GMS
Mendeliome v0.1776 TMEM65 Zornitza Stark Marked gene: TMEM65 as ready
Mendeliome v0.1776 TMEM65 Zornitza Stark Gene: tmem65 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1776 TMEM65 Zornitza Stark Classified gene: TMEM65 as Amber List (moderate evidence)
Mendeliome v0.1776 TMEM65 Zornitza Stark Gene: tmem65 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1775 TMEM65 Zornitza Stark gene: TMEM65 was added
gene: TMEM65 was added to Mendeliome. Sources: NHS GMS
Mode of inheritance for gene: TMEM65 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TMEM65 were set to 28295037
Phenotypes for gene: TMEM65 were set to Mitochondrial encephalomyopathy
Review for gene: TMEM65 was set to AMBER
Added comment: One homozygous case with a mitochondrial encephalomyopathy and functional assays showing the protein is important for mitochondrial respiration and mtDNA copy number maintenance.
Sources: NHS GMS
Mendeliome v0.1774 FECH Michelle Torres reviewed gene: FECH: Rating: GREEN; Mode of pathogenicity: None; Publications: 20105171, 23016163; Phenotypes: Protoporphyria, erythropoietic, 1 177000 AR; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.1774 ADAM17 Lauren Akesson reviewed gene: ADAM17: Rating: AMBER; Mode of pathogenicity: None; Publications: 22010916, 25804906, 21041656, 22236242; Phenotypes: Inflammatory neonatal-onset skin and bowel disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1774 SSBP1 Bryony Thompson Gene: ssbp1 has been classified as Green List (High Evidence).
Mendeliome v0.1774 SSBP1 Bryony Thompson Classified gene: SSBP1 as Green List (high evidence)
Mendeliome v0.1774 SSBP1 Bryony Thompson Gene: ssbp1 has been classified as Green List (High Evidence).
Mendeliome v0.1773 SSBP1 Bryony Thompson gene: SSBP1 was added
gene: SSBP1 was added to Mendeliome. Sources: NHS GMS
Mode of inheritance for gene: SSBP1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: SSBP1 were set to 31298765; 31479473; 31550237; 31550240
Phenotypes for gene: SSBP1 were set to Optic atrophy with or without extraocular phenotypes
Review for gene: SSBP1 was set to GREEN
Added comment: At least 9 dominant families/cases and 1 recessive with optic atrophy with/without additional clinical features, including retinal macular dystrophy, sensorineural deafness, mitochondrial myopathy, and kidney failure. Supporting evidence in functional assays and zebrafish model.
Sources: NHS GMS
Mendeliome v0.1772 ZNF462 Elena Savva reviewed gene: ZNF462: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 28513610; Phenotypes: Weiss-Kruszka syndrome, 618619; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mendeliome v0.1772 HCFC1 Elena Savva reviewed gene: HCFC1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 23000143; Phenotypes: Mental retardation, X-linked 3 (methylmalonic acidemia and homocysteinemia, cblX type ) 309541; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.1772 COX6A2 Zornitza Stark Gene: cox6a2 has been classified as Green List (High Evidence).
Mendeliome v0.1772 COX6A2 Zornitza Stark Classified gene: COX6A2 as Green List (high evidence)
Mendeliome v0.1772 COX6A2 Zornitza Stark Gene: cox6a2 has been classified as Green List (High Evidence).
Mendeliome v0.1771 COX6A2 Zornitza Stark gene: COX6A2 was added
gene: COX6A2 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: COX6A2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COX6A2 were set to 31155743; 23460811
Phenotypes for gene: COX6A2 were set to Mitochondrial complex IV deficiency, MIM# 220110
Review for gene: COX6A2 was set to GREEN
Added comment: Two unrelated families and two mouse models.
Sources: Expert list
Mendeliome v0.1770 YME1L1 Zornitza Stark Gene: yme1l1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1770 YME1L1 Zornitza Stark Classified gene: YME1L1 as Amber List (moderate evidence)
Mendeliome v0.1770 YME1L1 Zornitza Stark Gene: yme1l1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1769 YME1L1 Zornitza Stark gene: YME1L1 was added
gene: YME1L1 was added to Mendeliome. Sources: NHS GMS
Mode of inheritance for gene: YME1L1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: YME1L1 were set to 30544562; 27495975
Phenotypes for gene: YME1L1 were set to Optic atrophy 11, MIM#617302
Review for gene: YME1L1 was set to AMBER
Added comment: One consanguineous family with a homozygous variant and functional assays. YME1L leads to mitochondrial fragmentation and severely disorganized and attenuated cristae architecture in in vitro functional assays.
Sources: NHS GMS
Mendeliome v0.1767 Bryony Thompson removed gene:ANXA11 from the panel
Mendeliome v0.1766 ANXA11 Bryony Thompson gene: ANXA11 was added
gene: ANXA11 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: ANXA11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ANXA11 were set to 28469040; 29845112; 30109997
Phenotypes for gene: ANXA11 were set to Amytrophic lateral sclerosis 23 MIM#617839
Review for gene: ANXA11 was set to GREEN
Added comment: 4 different missense variants in 10 patients from 7 unrelated families with amyotrophic lateral sclerosis and functional assays supporting association.
Sources: Expert list
Mendeliome v0.1765 UQCRQ Zornitza Stark Gene: uqcrq has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1765 UQCRQ Zornitza Stark Phenotypes for gene: UQCRQ were changed from to Mitochondrial complex III deficiency, nuclear type 4, MIM# 615159
Mendeliome v0.1764 UQCRQ Zornitza Stark Publications for gene: UQCRQ were set to
Mendeliome v0.1763 UQCRQ Zornitza Stark Mode of inheritance for gene: UQCRQ was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1762 UQCRQ Zornitza Stark Classified gene: UQCRQ as Amber List (moderate evidence)
Mendeliome v0.1762 UQCRQ Zornitza Stark Gene: uqcrq has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1761 UQCRQ Zornitza Stark reviewed gene: UQCRQ: Rating: AMBER; Mode of pathogenicity: None; Publications: 18439546; Phenotypes: Mitochondrial complex III deficiency, nuclear type 4, MIM# 615159; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1761 UQCRC2 Zornitza Stark Gene: uqcrc2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1761 UQCRC2 Zornitza Stark Phenotypes for gene: UQCRC2 were changed from to Mitochondrial complex III deficiency, nuclear type 5, MIM# 615160
Mendeliome v0.1760 UQCRC2 Zornitza Stark Publications for gene: UQCRC2 were set to
Mendeliome v0.1759 UQCRC2 Zornitza Stark Mode of inheritance for gene: UQCRC2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1758 UQCRC2 Zornitza Stark Classified gene: UQCRC2 as Amber List (moderate evidence)
Mendeliome v0.1758 UQCRC2 Zornitza Stark Gene: uqcrc2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1757 UQCRC2 Zornitza Stark reviewed gene: UQCRC2: Rating: AMBER; Mode of pathogenicity: None; Publications: 28275242, 23281071; Phenotypes: Mitochondrial complex III deficiency, nuclear type 5, MIM# 615160; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1757 UQCC3 Zornitza Stark Gene: uqcc3 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1757 UQCC3 Zornitza Stark Phenotypes for gene: UQCC3 were changed from to Mitochondrial complex III deficiency, nuclear type 9, MIM# 616111
Mendeliome v0.1756 UQCC3 Zornitza Stark Publications for gene: UQCC3 were set to
Mendeliome v0.1755 UQCC3 Zornitza Stark Mode of inheritance for gene: UQCC3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1754 UQCC3 Zornitza Stark Classified gene: UQCC3 as Amber List (moderate evidence)
Mendeliome v0.1754 UQCC3 Zornitza Stark Gene: uqcc3 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1753 UQCC3 Zornitza Stark reviewed gene: UQCC3: Rating: AMBER; Mode of pathogenicity: None; Publications: 25008109, 28804536; Phenotypes: Mitochondrial complex III deficiency, nuclear type 9, MIM# 616111; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1753 TXN2 Zornitza Stark Marked gene: TXN2 as ready
Mendeliome v0.1753 TXN2 Zornitza Stark Gene: txn2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1753 TXN2 Zornitza Stark Phenotypes for gene: TXN2 were changed from to Combined oxidative phosphorylation deficiency 29, MIM# 616811
Mendeliome v0.1752 TXN2 Zornitza Stark Publications for gene: TXN2 were set to
Mendeliome v0.1751 TXN2 Zornitza Stark Mode of inheritance for gene: TXN2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1750 TXN2 Zornitza Stark Classified gene: TXN2 as Amber List (moderate evidence)
Mendeliome v0.1750 TXN2 Zornitza Stark Gene: txn2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1749 TXN2 Zornitza Stark reviewed gene: TXN2: Rating: AMBER; Mode of pathogenicity: None; Publications: 26626369, 12529397; Phenotypes: Combined oxidative phosphorylation deficiency 29, MIM# 616811; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1749 TARS2 Zornitza Stark Marked gene: TARS2 as ready
Mendeliome v0.1749 TARS2 Zornitza Stark Gene: tars2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1749 TARS2 Zornitza Stark Phenotypes for gene: TARS2 were changed from to Combined oxidative phosphorylation deficiency 21, MIM# 615918
Mendeliome v0.1748 TARS2 Zornitza Stark Publications for gene: TARS2 were set to
Mendeliome v0.1747 TARS2 Zornitza Stark Mode of inheritance for gene: TARS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1746 TARS2 Zornitza Stark Classified gene: TARS2 as Amber List (moderate evidence)
Mendeliome v0.1746 TARS2 Zornitza Stark Gene: tars2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1745 TARS2 Zornitza Stark reviewed gene: TARS2: Rating: AMBER; Mode of pathogenicity: None; Publications: 24827421, 26811336; Phenotypes: Combined oxidative phosphorylation deficiency 21, MIM# 615918; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1745 SLC25A32 Zornitza Stark Gene: slc25a32 has been classified as Green List (High Evidence).
Mendeliome v0.1745 SLC25A32 Zornitza Stark Classified gene: SLC25A32 as Green List (high evidence)
Mendeliome v0.1745 SLC25A32 Zornitza Stark Gene: slc25a32 has been classified as Green List (High Evidence).
Mendeliome v0.1744 SLC25A32 Zornitza Stark gene: SLC25A32 was added
gene: SLC25A32 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: SLC25A32 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC25A32 were set to 26933868; 28443623
Phenotypes for gene: SLC25A32 were set to Exercise intolerance, riboflavin-responsive, MIM# 616839
Review for gene: SLC25A32 was set to GREEN
Added comment: Two unrelated families reported with functional data. Muscle biopsy showed ragged-red fibers and lipid storage mainly in type I oxidative fibers, small type II fibers, and poor immunostaining for succinate dehydrogenase (FAD-dependent mitochondrial respiratory chain complex II). Oral supplementation with riboflavin led to dramatic improvement in the clinical and biologic abnormalities.
Sources: Expert list
Mendeliome v0.1743 NFS1 Zornitza Stark Gene: nfs1 has been classified as Red List (Low Evidence).
Mendeliome v0.1743 NFS1 Zornitza Stark Phenotypes for gene: NFS1 were changed from to Complex II/III deficiency; multisystem organ failure
Mendeliome v0.1742 NFS1 Zornitza Stark Publications for gene: NFS1 were set to
Mendeliome v0.1741 NFS1 Zornitza Stark Mode of inheritance for gene: NFS1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1740 NFS1 Zornitza Stark Classified gene: NFS1 as Red List (low evidence)
Mendeliome v0.1740 NFS1 Zornitza Stark Gene: nfs1 has been classified as Red List (Low Evidence).
Mendeliome v0.1739 NFS1 Zornitza Stark reviewed gene: NFS1: Rating: RED; Mode of pathogenicity: None; Publications: 24498631; Phenotypes: Complex II/III deficiency, multisystem organ failure; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1739 NDUFA6 Zornitza Stark Gene: ndufa6 has been classified as Green List (High Evidence).
Mendeliome v0.1739 NDUFA6 Zornitza Stark Phenotypes for gene: NDUFA6 were changed from to Mitochondrial complex I deficiency, nuclear type 33, MIM# 618253
Mendeliome v0.1738 NDUFA6 Zornitza Stark Publications for gene: NDUFA6 were set to
Mendeliome v0.1737 NDUFA6 Zornitza Stark Mode of inheritance for gene: NDUFA6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1736 NDUFA6 Zornitza Stark reviewed gene: NDUFA6: Rating: GREEN; Mode of pathogenicity: None; Publications: 30245030; Phenotypes: Mitochondrial complex I deficiency, nuclear type 33, MIM# 618253; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1736 NDUFA4 Zornitza Stark Gene: ndufa4 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1736 NDUFA4 Zornitza Stark Phenotypes for gene: NDUFA4 were changed from to Leigh syndrome; Complex IV deficiency
Mendeliome v0.1735 NDUFA4 Zornitza Stark Publications for gene: NDUFA4 were set to
Mendeliome v0.1734 NDUFA4 Zornitza Stark Mode of inheritance for gene: NDUFA4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1733 NDUFA4 Zornitza Stark Classified gene: NDUFA4 as Amber List (moderate evidence)
Mendeliome v0.1733 NDUFA4 Zornitza Stark Gene: ndufa4 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1732 NDUFA4 Zornitza Stark reviewed gene: NDUFA4: Rating: AMBER; Mode of pathogenicity: None; Publications: 30361421, 28988874, 23746447; Phenotypes: Leigh syndrome, Complex IV deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1732 NDUFA13 Zornitza Stark Gene: ndufa13 has been classified as Red List (Low Evidence).
Mendeliome v0.1732 NDUFA13 Zornitza Stark Phenotypes for gene: NDUFA13 were changed from to Mitochondrial complex I deficiency, nuclear type 28, MIM# 618249
Mendeliome v0.1731 NDUFA13 Zornitza Stark Publications for gene: NDUFA13 were set to
Mendeliome v0.1730 NDUFA13 Zornitza Stark Mode of inheritance for gene: NDUFA13 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1729 NDUFA13 Zornitza Stark Classified gene: NDUFA13 as Red List (low evidence)
Mendeliome v0.1729 NDUFA13 Zornitza Stark Gene: ndufa13 has been classified as Red List (Low Evidence).
Mendeliome v0.1728 NDUFA13 Zornitza Stark reviewed gene: NDUFA13: Rating: RED; Mode of pathogenicity: None; Publications: 25901006; Phenotypes: Mitochondrial complex I deficiency, nuclear type 28, MIM# 618249; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1728 NADK2 Zornitza Stark Gene: nadk2 has been classified as Green List (High Evidence).
Mendeliome v0.1728 NADK2 Zornitza Stark Classified gene: NADK2 as Green List (high evidence)
Mendeliome v0.1728 NADK2 Zornitza Stark Gene: nadk2 has been classified as Green List (High Evidence).
Mendeliome v0.1727 NADK2 Zornitza Stark gene: NADK2 was added
gene: NADK2 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: NADK2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NADK2 were set to 24847004; 29388319; 27940755
Phenotypes for gene: NADK2 were set to 2,4-dienoyl-CoA reductase deficiency, MIM# 616034
Review for gene: NADK2 was set to GREEN
gene: NADK2 was marked as current diagnostic
Added comment: Mitochondrial dysfunction resulting in severe neurologic and metabolic dysfunction beginning in early infancy reported in two individuals with confirmed variants in this gene. Another individual with homozygous hypomorphic start loss variant g.36241900 A>G p. Met1Val and milder phenotype reported (PMID:29388319).
Sources: Expert list
Mendeliome v0.1726 ISCA1 Zornitza Stark Gene: isca1 has been classified as Green List (High Evidence).
Mendeliome v0.1726 ISCA1 Zornitza Stark Classified gene: ISCA1 as Green List (high evidence)
Mendeliome v0.1726 ISCA1 Zornitza Stark Gene: isca1 has been classified as Green List (High Evidence).
Mendeliome v0.1725 ISCA1 Zornitza Stark gene: ISCA1 was added
gene: ISCA1 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: ISCA1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ISCA1 were set to 28356563; 32092383; 31016283; 30113620; 30105122
Phenotypes for gene: ISCA1 were set to Multiple mitochondrial dysfunctions syndrome 5, MIM# 617613
Review for gene: ISCA1 was set to GREEN
gene: ISCA1 was marked as current diagnostic
Added comment: Multiple unrelated families reported. Severe disorder characterised by progressive neurologic deterioration beginning in early infancy. Affected individuals have essentially no psychomotor development and have early-onset seizures with neurologic decline and spasticity. Brain imaging shows severe leukodystrophy with evidence of dys- or delayed myelination. Rat model results in early lethality. Founder variant c.259G > A, p.(Glu87Lys) reported in Indian families.
Sources: Expert list
Mendeliome v0.1724 ERCC5 Zornitza Stark Gene: ercc5 has been classified as Green List (High Evidence).
Mendeliome v0.1724 ERCC5 Zornitza Stark Phenotypes for gene: ERCC5 were changed from to Cerebrooculofacioskeletal syndrome 3, MIM# 616570; Xeroderma pigmentosum, group G, MIM# 278780; Xeroderma pigmentosum, group G/Cockayne syndrome, MIM# 278780
Mendeliome v0.1723 ERCC5 Zornitza Stark Publications for gene: ERCC5 were set to
Mendeliome v0.1722 ERCC5 Zornitza Stark Mode of inheritance for gene: ERCC5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1721 BTD Zornitza Stark Marked gene: BTD as ready
Mendeliome v0.1721 BTD Zornitza Stark Gene: btd has been classified as Green List (High Evidence).
Mendeliome v0.1721 BTD Zornitza Stark Phenotypes for gene: BTD were changed from to Biotinidase deficiency, MIM 253260
Mendeliome v0.1720 BTD Zornitza Stark Publications for gene: BTD were set to
Mendeliome v0.1719 BTD Zornitza Stark Mode of inheritance for gene: BTD was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1718 CTNNB1 Zornitza Stark Marked gene: CTNNB1 as ready
Mendeliome v0.1718 CTNNB1 Zornitza Stark Gene: ctnnb1 has been classified as Green List (High Evidence).
Mendeliome v0.1718 CTNNB1 Zornitza Stark Phenotypes for gene: CTNNB1 were changed from to Exudative vitreoretinopathy 7, MIM# 617572; Neurodevelopmental disorder with spastic diplegia and visual defects, MIM# 615075
Mendeliome v0.1717 CTNNB1 Zornitza Stark Publications for gene: CTNNB1 were set to
Mendeliome v0.1716 CTNNB1 Zornitza Stark Mode of pathogenicity for gene: CTNNB1 was changed from to Other
Mendeliome v0.1715 CTNNB1 Zornitza Stark Mode of inheritance for gene: CTNNB1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.1714 CTNNB1 Zornitza Stark reviewed gene: CTNNB1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25326669, 29435196, 27915094, 30640974; Phenotypes: Exudative vitreoretinopathy 7, MIM# 617572, Neurodevelopmental disorder with spastic diplegia and visual defects, MIM# 615075; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.1714 ERCC5 Chern Lim reviewed gene: ERCC5: Rating: GREEN; Mode of pathogenicity: None; Publications: 30838033, 24700531; Phenotypes: Cerebrooculofacioskeletal syndrome 3, MIM# 616570, Xeroderma pigmentosum, group G, MIM# 278780, Xeroderma pigmentosum, group G/Cockayne syndrome, MIM# 278780; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1714 BTD Chern Lim reviewed gene: BTD: Rating: GREEN; Mode of pathogenicity: None; Publications: 10801053, 12359137; Phenotypes: Biotinidase deficiency, MIM 253260; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1714 CTNNB1 Teresa Zhao changed review comment from: OMIM:
LoF - mainly non cancerous phenotypes, and
GoF - mainly cancer phenotypes.

Cancer hot spot in exon 3, mainly missenses affecting S33, S37, S45, T41, D32 and G34 (Gao. C. et al. 2017); to: OMIM:
LoF - mainly non cancerous phenotypes, and
GoF - mainly cancer phenotypes.

Cancer hot spot in exon 3, mainly missenses affecting S33, S37, S45, T41, D32 and G34 (Gao. C. et al. 2017)
Mendeliome v0.1714 CTNNB1 Teresa Zhao reviewed gene: CTNNB1: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: PMID: 29435196, PMID: 27915094, PMID: 30640974; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.1714 KANK4 Zornitza Stark edited their review of gene: KANK4: Changed rating: RED
Mendeliome v0.1714 TET2 Zornitza Stark Marked gene: TET2 as ready
Mendeliome v0.1714 TET2 Zornitza Stark Gene: tet2 has been classified as Red List (Low Evidence).
Mendeliome v0.1714 TET2 Zornitza Stark Classified gene: TET2 as Red List (low evidence)
Mendeliome v0.1714 TET2 Zornitza Stark Gene: tet2 has been classified as Red List (Low Evidence).
Mendeliome v0.1713 TET2 Zornitza Stark reviewed gene: TET2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.1713 ARL11 Zornitza Stark Gene: arl11 has been classified as Red List (Low Evidence).
Mendeliome v0.1713 ARL11 Zornitza Stark Mode of inheritance for gene: ARL11 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.1712 ARL11 Zornitza Stark Classified gene: ARL11 as Red List (low evidence)
Mendeliome v0.1712 ARL11 Zornitza Stark Gene: arl11 has been classified as Red List (Low Evidence).
Mendeliome v0.1711 ARL11 Zornitza Stark reviewed gene: ARL11: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.1711 CLCN6 Zornitza Stark Gene: clcn6 has been classified as Red List (Low Evidence).
Mendeliome v0.1711 CLCN6 Zornitza Stark Phenotypes for gene: CLCN6 were changed from to Benign partial epilepsy; febrile seizures; NCL
Mendeliome v0.1710 CLCN6 Zornitza Stark Publications for gene: CLCN6 were set to
Mendeliome v0.1709 CLCN6 Zornitza Stark Mode of inheritance for gene: CLCN6 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.1708 CLCN6 Zornitza Stark Classified gene: CLCN6 as Red List (low evidence)
Mendeliome v0.1708 CLCN6 Zornitza Stark Gene: clcn6 has been classified as Red List (Low Evidence).
Mendeliome v0.1707 CLCN6 Zornitza Stark reviewed gene: CLCN6: Rating: RED; Mode of pathogenicity: None; Publications: 25794116, 21107136; Phenotypes: Benign partial epilepsy, febrile seizures, NCL; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.1707 SEMA6B Zornitza Stark Gene: sema6b has been classified as Green List (High Evidence).
Mendeliome v0.1707 SEMA6B Zornitza Stark Classified gene: SEMA6B as Green List (high evidence)
Mendeliome v0.1707 SEMA6B Zornitza Stark Gene: sema6b has been classified as Green List (High Evidence).
Mendeliome v0.1706 SEMA6B Zornitza Stark gene: SEMA6B was added
gene: SEMA6B was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: SEMA6B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SEMA6B were set to 32169168
Phenotypes for gene: SEMA6B were set to Progressive myoclonic epilepsy
Mode of pathogenicity for gene: SEMA6B was set to Other
Review for gene: SEMA6B was set to GREEN
Added comment: Five individuals from unrelated families reported with de novo variants in the last exon, escaping NMD.
Sources: Literature
Mendeliome v0.1705 IFT74 Zornitza Stark Publications for gene: IFT74 were set to 27486776
Mendeliome v0.1704 IFT74 Zornitza Stark Classified gene: IFT74 as Green List (high evidence)
Mendeliome v0.1704 IFT74 Zornitza Stark Gene: ift74 has been classified as Green List (High Evidence).
Mendeliome v0.1703 IFT74 Zornitza Stark edited their review of gene: IFT74: Added comment: Second individual with bi-allelic variants and BBS phenotype reported.; Changed rating: GREEN; Changed publications: 27486776, 32144365
Mendeliome v0.1703 CAMTA1 Zornitza Stark Marked gene: CAMTA1 as ready
Mendeliome v0.1703 CAMTA1 Zornitza Stark Gene: camta1 has been classified as Green List (High Evidence).
Mendeliome v0.1703 CAMTA1 Zornitza Stark Phenotypes for gene: CAMTA1 were changed from to Cerebellar ataxia, nonprogressive, with mental retardation (614756 AD)
Mendeliome v0.1702 CAMTA1 Zornitza Stark Publications for gene: CAMTA1 were set to
Mendeliome v0.1701 CAMTA1 Zornitza Stark Mode of inheritance for gene: CAMTA1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.1700 CAMTA1 Zornitza Stark Tag SV/CNV tag was added to gene: CAMTA1.
Mendeliome v0.1700 CAMTA1 Zornitza Stark reviewed gene: CAMTA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 32157189, 22693284; Phenotypes: Cerebellar ataxia, nonprogressive, with mental retardation (614756 AD); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.1700 TNNI3K Zornitza Stark Marked gene: TNNI3K as ready
Mendeliome v0.1700 TNNI3K Zornitza Stark Gene: tnni3k has been classified as Green List (High Evidence).
Mendeliome v0.1700 TNNI3K Zornitza Stark Classified gene: TNNI3K as Green List (high evidence)
Mendeliome v0.1700 TNNI3K Zornitza Stark Gene: tnni3k has been classified as Green List (High Evidence).
Mendeliome v0.1699 TNNI3K Zornitza Stark gene: TNNI3K was added
gene: TNNI3K was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: TNNI3K was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TNNI3K were set to 30010057; 29355681
Phenotypes for gene: TNNI3K were set to Cardiac conduction disease with or without dilated cardiomyopathy, MIM# 616117
Review for gene: TNNI3K was set to GREEN
gene: TNNI3K was marked as current diagnostic
Added comment: At least 6 multigenerational families reported where variants segregated with disease.
Sources: Expert list
Mendeliome v0.1698 GPT2 Zornitza Stark Marked gene: GPT2 as ready
Mendeliome v0.1698 GPT2 Zornitza Stark Gene: gpt2 has been classified as Green List (High Evidence).
Mendeliome v0.1698 GPT2 Zornitza Stark Phenotypes for gene: GPT2 were changed from to Mental retardation, autosomal recessive 49, MIM#616281
Mendeliome v0.1697 GPT2 Zornitza Stark Publications for gene: GPT2 were set to
Mendeliome v0.1696 GPT2 Zornitza Stark Mode of inheritance for gene: GPT2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1695 GPT2 Zornitza Stark reviewed gene: GPT2: Rating: GREEN; Mode of pathogenicity: None; Publications: 27601654, 25758935; Phenotypes: Mental retardation, autosomal recessive 49, MIM#616281; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1695 ERCC6L2 Zornitza Stark Gene: ercc6l2 has been classified as Green List (High Evidence).
Mendeliome v0.1695 ERCC6L2 Zornitza Stark Phenotypes for gene: ERCC6L2 were changed from to Bone marrow failure syndrome 2, MIM# 615715
Mendeliome v0.1694 ERCC6L2 Zornitza Stark Publications for gene: ERCC6L2 were set to
Mendeliome v0.1693 ERCC6L2 Zornitza Stark Mode of inheritance for gene: ERCC6L2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1692 ERCC6L2 Zornitza Stark reviewed gene: ERCC6L2: Rating: GREEN; Mode of pathogenicity: None; Publications: 24507776, 27185855; Phenotypes: Bone marrow failure syndrome 2, MIM# 615715; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1692 PPM1E Zornitza Stark Added comment: Comment when marking as ready: Agreed, cannot find evidence for Mendelian gene-disease association.
Mendeliome v0.1692 PPM1E Zornitza Stark Gene: ppm1e has been classified as Red List (Low Evidence).
Mendeliome v0.1692 PPM1E Zornitza Stark Classified gene: PPM1E as Red List (low evidence)
Mendeliome v0.1692 PPM1E Zornitza Stark Gene: ppm1e has been classified as Red List (Low Evidence).
Mendeliome v0.1691 PPM1E Naomi Baker reviewed gene: PPM1E: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.1691 SUPT16H Zornitza Stark Marked gene: SUPT16H as ready
Mendeliome v0.1691 SUPT16H Zornitza Stark Gene: supt16h has been classified as Green List (High Evidence).
Mendeliome v0.1691 SUPT16H Zornitza Stark Classified gene: SUPT16H as Green List (high evidence)
Mendeliome v0.1691 SUPT16H Zornitza Stark Gene: supt16h has been classified as Green List (High Evidence).
Mendeliome v0.1690 SUPT16H Zornitza Stark gene: SUPT16H was added
gene: SUPT16H was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: SUPT16H was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SUPT16H were set to 31924697
Phenotypes for gene: SUPT16H were set to Intellectual disability; Abnormality of the corpus callosum
Review for gene: SUPT16H was set to GREEN
Added comment: Four unrelated individuals with de novo missense variants in this gene. Publication also reports on a deletion, but note this includes other genes and the individual also had another CNV.
Sources: Literature
Mendeliome v0.1689 RARS Zornitza Stark Gene: rars has been classified as Green List (High Evidence).
Mendeliome v0.1689 RARS Zornitza Stark Phenotypes for gene: RARS were changed from to Leukodystrophy, hypomyelinating, 9 MIM# 616140
Mendeliome v0.1688 RARS Zornitza Stark Publications for gene: RARS were set to
Mendeliome v0.1687 RARS Zornitza Stark Mode of inheritance for gene: RARS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1686 RARS Zornitza Stark reviewed gene: RARS: Rating: GREEN; Mode of pathogenicity: None; Publications: 31814314; Phenotypes: Leukodystrophy, hypomyelinating, 9 MIM# 616140; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1686 CXorf56 Zornitza Stark Classified gene: CXorf56 as Green List (high evidence)
Mendeliome v0.1686 CXorf56 Zornitza Stark Gene: cxorf56 has been classified as Green List (High Evidence).
Mendeliome v0.1685 CXorf56 Zornitza Stark edited their review of gene: CXorf56: Added comment: Additional 3 families reported, upgrade to Green.; Changed rating: GREEN; Changed publications: 29374277, 31822863; Changed phenotypes: Mental retardation, X-linked 107, MIM# 301013
Mendeliome v0.1685 TNR Zornitza Stark Marked gene: TNR as ready
Mendeliome v0.1685 TNR Zornitza Stark Gene: tnr has been classified as Green List (High Evidence).
Mendeliome v0.1685 TNR Zornitza Stark Classified gene: TNR as Green List (high evidence)
Mendeliome v0.1685 TNR Zornitza Stark Gene: tnr has been classified as Green List (High Evidence).
Mendeliome v0.1684 TNR Zornitza Stark gene: TNR was added
gene: TNR was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: TNR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TNR were set to 32099069
Phenotypes for gene: TNR were set to Spastic para- or tetraparesis; Axial muscular hypotonia; Intellectual disability; Transient opisthotonus
Review for gene: TNR was set to GREEN
Added comment: 13 individuals from 8 unrelated families reported.
Sources: Literature
Mendeliome v0.1683 RSPRY1 Zornitza Stark Gene: rspry1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1683 RSPRY1 Zornitza Stark Phenotypes for gene: RSPRY1 were changed from to Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type, 616585
Mendeliome v0.1682 RSPRY1 Zornitza Stark Publications for gene: RSPRY1 were set to
Mendeliome v0.1681 RSPRY1 Zornitza Stark Mode of inheritance for gene: RSPRY1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1680 RSPRY1 Zornitza Stark Classified gene: RSPRY1 as Amber List (moderate evidence)
Mendeliome v0.1680 RSPRY1 Zornitza Stark Gene: rspry1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1679 RSPRY1 Zornitza Stark reviewed gene: RSPRY1: Rating: AMBER; Mode of pathogenicity: None; Publications: 26365341; Phenotypes: Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type, 616585; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1679 RPS23 Zornitza Stark Gene: rps23 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1679 RPS23 Zornitza Stark Phenotypes for gene: RPS23 were changed from to Brachycephaly, trichomegaly, and developmental delay, MIM# 617412
Mendeliome v0.1678 RPS23 Zornitza Stark Publications for gene: RPS23 were set to
Mendeliome v0.1677 RPS23 Zornitza Stark Mode of inheritance for gene: RPS23 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.1676 RPS23 Zornitza Stark Mode of inheritance for gene: RPS23 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.1675 RPS23 Zornitza Stark Classified gene: RPS23 as Amber List (moderate evidence)
Mendeliome v0.1675 RPS23 Zornitza Stark Gene: rps23 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1674 RPS23 Zornitza Stark reviewed gene: RPS23: Rating: AMBER; Mode of pathogenicity: None; Publications: 28257692; Phenotypes: Brachycephaly, trichomegaly, and developmental delay, MIM# 617412; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.1674 KANK1 Zornitza Stark Classified gene: KANK1 as Red List (low evidence)
Mendeliome v0.1674 KANK1 Zornitza Stark Gene: kank1 has been classified as Red List (Low Evidence).
Mendeliome v0.1673 KANK1 Zornitza Stark changed review comment from: Comment on list classification: Amber for nephrotic after discussion with Chirag Patel.; to: Comment on list classification: Red for nephrotic after discussion with Chirag Patel.
Mendeliome v0.1673 FUT6 Zornitza Stark Marked gene: FUT6 as ready
Mendeliome v0.1673 FUT6 Zornitza Stark Gene: fut6 has been classified as Red List (Low Evidence).
Mendeliome v0.1673 FUT6 Zornitza Stark Phenotypes for gene: FUT6 were changed from to Fucosyltransferase 6 deficiency, MIM# 613852
Mendeliome v0.1672 FUT6 Zornitza Stark Classified gene: FUT6 as Red List (low evidence)
Mendeliome v0.1672 FUT6 Zornitza Stark Gene: fut6 has been classified as Red List (Low Evidence).
Mendeliome v0.1671 FUT6 Zornitza Stark reviewed gene: FUT6: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Fucosyltransferase 6 deficiency, MIM# 613852; Mode of inheritance: None
Mendeliome v0.1671 FUT2 Zornitza Stark Marked gene: FUT2 as ready
Mendeliome v0.1671 FUT2 Zornitza Stark Gene: fut2 has been classified as Red List (Low Evidence).
Mendeliome v0.1671 FUT2 Zornitza Stark Phenotypes for gene: FUT2 were changed from to [Bombay phenotype, digenic] 616754; {Norwalk virus infection, resistance to}; {Vitamin B12 plasma level QTL1} 612542
Mendeliome v0.1670 FUT2 Zornitza Stark Classified gene: FUT2 as Red List (low evidence)
Mendeliome v0.1670 FUT2 Zornitza Stark Gene: fut2 has been classified as Red List (Low Evidence).
Mendeliome v0.1669 FUT2 Zornitza Stark reviewed gene: FUT2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: [Bombay phenotype, digenic] 616754, {Norwalk virus infection, resistance to}, {Vitamin B12 plasma level QTL1} 612542; Mode of inheritance: None
Mendeliome v0.1669 HMGA2 Zornitza Stark Gene: hmga2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1669 HMGA2 Zornitza Stark Phenotypes for gene: HMGA2 were changed from to Silver-Russel syndrome
Mendeliome v0.1668 HMGA2 Zornitza Stark Publications for gene: HMGA2 were set to
Mendeliome v0.1667 HMGA2 Zornitza Stark Mode of inheritance for gene: HMGA2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.1666 HMGA2 Zornitza Stark Tag SV/CNV tag was added to gene: HMGA2.
Mendeliome v0.1666 HMGA2 Zornitza Stark Classified gene: HMGA2 as Amber List (moderate evidence)
Mendeliome v0.1666 HMGA2 Zornitza Stark Gene: hmga2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1665 HMGA2 Zornitza Stark reviewed gene: HMGA2: Rating: AMBER; Mode of pathogenicity: None; Publications: 29655892, 25809938; Phenotypes: Silver-Russel syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.1665 DTD1 Zornitza Stark Marked gene: DTD1 as ready
Mendeliome v0.1665 DTD1 Zornitza Stark Gene: dtd1 has been classified as Red List (Low Evidence).
Mendeliome v0.1665 DTD1 Zornitza Stark Classified gene: DTD1 as Red List (low evidence)
Mendeliome v0.1665 DTD1 Zornitza Stark Gene: dtd1 has been classified as Red List (Low Evidence).
Mendeliome v0.1664 DTD1 Zornitza Stark reviewed gene: DTD1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.1664 UTS2B Zornitza Stark Marked gene: UTS2B as ready
Mendeliome v0.1664 UTS2B Zornitza Stark Gene: uts2b has been classified as Red List (Low Evidence).
Mendeliome v0.1664 UTS2B Zornitza Stark Classified gene: UTS2B as Red List (low evidence)
Mendeliome v0.1664 UTS2B Zornitza Stark Gene: uts2b has been classified as Red List (Low Evidence).
Mendeliome v0.1663 UTS2B Zornitza Stark reviewed gene: UTS2B: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.1663 MFSD2A Zornitza Stark Gene: mfsd2a has been classified as Green List (High Evidence).
Mendeliome v0.1663 MFSD2A Zornitza Stark Phenotypes for gene: MFSD2A were changed from to Microcephaly 15, primary, autosomal recessive, MIM# 616486
Mendeliome v0.1662 MFSD2A Zornitza Stark Publications for gene: MFSD2A were set to
Mendeliome v0.1661 MFSD2A Zornitza Stark Mode of inheritance for gene: MFSD2A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1660 MFSD2A Zornitza Stark reviewed gene: MFSD2A: Rating: GREEN; Mode of pathogenicity: None; Publications: 26005865, 26005868, 24828044; Phenotypes: Microcephaly 15, primary, autosomal recessive, MIM# 616486; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1660 MED12L Zornitza Stark Gene: med12l has been classified as Green List (High Evidence).
Mendeliome v0.1660 MED12L Zornitza Stark Classified gene: MED12L as Green List (high evidence)
Mendeliome v0.1660 MED12L Zornitza Stark Gene: med12l has been classified as Green List (High Evidence).
Mendeliome v0.1659 MED12L Zornitza Stark gene: MED12L was added
gene: MED12L was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: MED12L was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MED12L were set to 31155615
Phenotypes for gene: MED12L were set to Intellectual disability; Seizures; Autism
Review for gene: MED12L was set to GREEN
Added comment: 7 individuals reported, 3 with CNVs (encompassing other genes) and 4 with SNVs (frameshift, nonsense and splice site).
Sources: Expert list
Mendeliome v0.1658 MCM3AP Zornitza Stark Gene: mcm3ap has been classified as Green List (High Evidence).
Mendeliome v0.1658 MCM3AP Zornitza Stark Classified gene: MCM3AP as Green List (high evidence)
Mendeliome v0.1658 MCM3AP Zornitza Stark Gene: mcm3ap has been classified as Green List (High Evidence).
Mendeliome v0.1657 MCM3AP Zornitza Stark gene: MCM3AP was added
gene: MCM3AP was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: MCM3AP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MCM3AP were set to 24123876; 28633435; 28969388; 29982295
Phenotypes for gene: MCM3AP were set to Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development, MIM#618124
Review for gene: MCM3AP was set to GREEN
gene: MCM3AP was marked as current diagnostic
Added comment: At least 10 families reported.
Sources: Expert list
Mendeliome v0.1656 MAPRE2 Zornitza Stark Gene: mapre2 has been classified as Green List (High Evidence).
Mendeliome v0.1656 MAPRE2 Zornitza Stark Phenotypes for gene: MAPRE2 were changed from to Symmetric circumferential skin creases, congenital, 2, MIM# 616734
Mendeliome v0.1655 MAPRE2 Zornitza Stark Publications for gene: MAPRE2 were set to
Mendeliome v0.1654 MAPRE2 Zornitza Stark Mode of inheritance for gene: MAPRE2 was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mendeliome v0.1653 MAPRE2 Zornitza Stark reviewed gene: MAPRE2: Rating: GREEN; Mode of pathogenicity: None; Publications: 26637975; Phenotypes: Symmetric circumferential skin creases, congenital, 2, MIM# 616734; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mendeliome v0.1653 PURA Zornitza Stark Gene: pura has been classified as Green List (High Evidence).
Mendeliome v0.1653 PURA Zornitza Stark Phenotypes for gene: PURA were changed from to Mental retardation, autosomal dominant 31, MIM# 616158
Mendeliome v0.1653 PURA Zornitza Stark Publications for gene: PURA were set to 25439098; 25342064; 12972605
Mendeliome v0.1652 PURA Zornitza Stark Publications for gene: PURA were set to
Mendeliome v0.1651 PURA Zornitza Stark Mode of inheritance for gene: PURA was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.1650 PURA Zornitza Stark reviewed gene: PURA: Rating: GREEN; Mode of pathogenicity: None; Publications: 25439098, 25342064, 12972605; Phenotypes: Mental retardation, autosomal dominant 31, MIM# 616158; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.1650 BPTF Zornitza Stark Marked gene: BPTF as ready
Mendeliome v0.1650 BPTF Zornitza Stark Gene: bptf has been classified as Green List (High Evidence).
Mendeliome v0.1650 BPTF Zornitza Stark Phenotypes for gene: BPTF were changed from to Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies AD, MIM#617755
Mendeliome v0.1649 BPTF Zornitza Stark Publications for gene: BPTF were set to
Mendeliome v0.1648 BPTF Zornitza Stark Mode of inheritance for gene: BPTF was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.1647 TRIO Zornitza Stark Marked gene: TRIO as ready
Mendeliome v0.1647 TRIO Zornitza Stark Gene: trio has been classified as Green List (High Evidence).
Mendeliome v0.1647 TRIO Zornitza Stark Phenotypes for gene: TRIO were changed from to Mental retardation, autosomal dominant 44, MIM# 617061
Mendeliome v0.1646 TRIO Zornitza Stark Publications for gene: TRIO were set to
Mendeliome v0.1645 TRIO Zornitza Stark Mode of inheritance for gene: TRIO was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.1644 TRIO Zornitza Stark reviewed gene: TRIO: Rating: GREEN; Mode of pathogenicity: None; Publications: 26721934, 32109419; Phenotypes: Mental retardation, autosomal dominant 44, MIM# 617061; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.1644 MAN1B1 Zornitza Stark Gene: man1b1 has been classified as Green List (High Evidence).
Mendeliome v0.1644 MAN1B1 Zornitza Stark Phenotypes for gene: MAN1B1 were changed from to Mental retardation, autosomal recessive 15, MIM#614202
Mendeliome v0.1643 MAN1B1 Zornitza Stark Publications for gene: MAN1B1 were set to
Mendeliome v0.1642 MAN1B1 Zornitza Stark Mode of inheritance for gene: MAN1B1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1641 KMT2C Zornitza Stark Marked gene: KMT2C as ready
Mendeliome v0.1641 KMT2C Zornitza Stark Gene: kmt2c has been classified as Green List (High Evidence).
Mendeliome v0.1641 KMT2C Zornitza Stark Phenotypes for gene: KMT2C were changed from to Kleefstra syndrome 2, MIM#617768
Mendeliome v0.1640 KMT2C Zornitza Stark Mode of inheritance for gene: KMT2C was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.1639 GLRX5 Zornitza Stark Gene: glrx5 has been classified as Green List (High Evidence).
Mendeliome v0.1639 GLRX5 Zornitza Stark Phenotypes for gene: GLRX5 were changed from to Anemia, sideroblastic, 3, pyridoxine-refractory; Spasticity, childhood-onset, with hyperglycinemia
Mendeliome v0.1638 GLRX5 Zornitza Stark Mode of inheritance for gene: GLRX5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1637 NUDT2 Zornitza Stark Marked gene: NUDT2 as ready
Mendeliome v0.1637 NUDT2 Zornitza Stark Gene: nudt2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1637 NUDT2 Zornitza Stark Classified gene: NUDT2 as Amber List (moderate evidence)
Mendeliome v0.1637 NUDT2 Zornitza Stark Gene: nudt2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1636 NUDT2 Zornitza Stark gene: NUDT2 was added
gene: NUDT2 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: NUDT2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NUDT2 were set to 27431290; 30059600
Phenotypes for gene: NUDT2 were set to Muscular hypotonia; Global developmental delay; Intellectual disability
Review for gene: NUDT2 was set to AMBER
Added comment: 7 affected individuals from 4 Saudi families, with same homozygous truncating variant.
Sources: Expert list
Mendeliome v0.1635 BPTF Michelle Torres reviewed gene: BPTF: Rating: GREEN; Mode of pathogenicity: None; Publications: 28942966; Phenotypes: Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies AD; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.1635 SLC26A4 Elena Savva reviewed gene: SLC26A4: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 24599119; Phenotypes: Deafness, autosomal recessive 4, with enlarged vestibular aqueduct 600791, Pendred syndrome 274600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1635 MAP3K7 Michelle Torres reviewed gene: MAP3K7: Rating: GREEN; Mode of pathogenicity: Other; Publications: 27426734, 27426733; Phenotypes: Cardiospondylocarpofacial syndrome 157800 AD, Frontometaphyseal dysplasia 2 617137 AD; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.1635 MAN1B1 Elena Savva reviewed gene: MAN1B1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 24348268; Phenotypes: Mental retardation, autosomal recessive 15; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.1635 KMT2C Elena Savva reviewed gene: KMT2C: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Kleefstra syndrome 2; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mendeliome v0.1635 GLRX5 Elena Savva reviewed gene: GLRX5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Anemia, sideroblastic, 3, pyridoxine-refractory, Spasticity, childhood-onset, with hyperglycinemia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1635 NKAP Zornitza Stark Gene: nkap has been classified as Green List (High Evidence).
Mendeliome v0.1635 NKAP Zornitza Stark Classified gene: NKAP as Green List (high evidence)
Mendeliome v0.1635 NKAP Zornitza Stark Gene: nkap has been classified as Green List (High Evidence).
Mendeliome v0.1634 NKAP Zornitza Stark gene: NKAP was added
gene: NKAP was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: NKAP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NKAP were set to 26358559; 26350204; 31587868
Phenotypes for gene: NKAP were set to Intellectual disability
Review for gene: NKAP was set to GREEN
gene: NKAP was marked as current diagnostic
Added comment: 10 males from 8 unrelated families with missense mutations in NKAP (on Xq24) Hypotonia and tall stature with Marfanoid habitus was predominant phenotype. One variant (NM_024528:c.988G>A / p.Arg333Gln)
Sources: Expert list
Mendeliome v0.1633 TBR1 Zornitza Stark Marked gene: TBR1 as ready
Mendeliome v0.1633 TBR1 Zornitza Stark Gene: tbr1 has been classified as Green List (High Evidence).
Mendeliome v0.1633 TBR1 Zornitza Stark Phenotypes for gene: TBR1 were changed from to Intellectual developmental disorder with autism and speech delay, MIM# 606053
Mendeliome v0.1632 TBR1 Zornitza Stark Publications for gene: TBR1 were set to
Mendeliome v0.1631 TBR1 Zornitza Stark Mode of inheritance for gene: TBR1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.1630 GNRHR Zornitza Stark Gene: gnrhr has been classified as Green List (High Evidence).
Mendeliome v0.1630 GNRHR Zornitza Stark Phenotypes for gene: GNRHR were changed from to Hypogonadotropic hypogonadism 7 without anosmia, MIM#146110
Mendeliome v0.1629 GNRHR Zornitza Stark Publications for gene: GNRHR were set to
Mendeliome v0.1628 GNRHR Zornitza Stark Mode of inheritance for gene: GNRHR was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1627 GNRHR Kristin Rigbye reviewed gene: GNRHR: Rating: GREEN; Mode of pathogenicity: None; Publications: 28348023, 9371856; Phenotypes: Hypogonadotropic hypogonadism 7 without anosmia, 146110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1627 TBR1 Melanie Marty reviewed gene: TBR1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25232744, 30250039; Phenotypes: Intellectual developmental disorder with autism and speech delay 606053; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.1627 MYO9A Zornitza Stark Gene: myo9a has been classified as Green List (High Evidence).
Mendeliome v0.1627 MYO9A Zornitza Stark Phenotypes for gene: MYO9A were changed from to Congenital myasthenic syndrome 24, presynaptic, MIM# 618198
Mendeliome v0.1626 MYO9A Zornitza Stark Publications for gene: MYO9A were set to
Mendeliome v0.1625 MYO9A Zornitza Stark Mode of inheritance for gene: MYO9A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1624 MYO9A Zornitza Stark reviewed gene: MYO9A: Rating: GREEN; Mode of pathogenicity: None; Publications: 26752647, 27259756; Phenotypes: Congenital myasthenic syndrome 24, presynaptic, MIM# 618198; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1624 ZDHHC15 Zornitza Stark Gene: zdhhc15 has been classified as Red List (Low Evidence).
Mendeliome v0.1624 ZDHHC15 Zornitza Stark Phenotypes for gene: ZDHHC15 were changed from to Mental retardation, X-linked 91, 300577
Mendeliome v0.1623 ZDHHC15 Zornitza Stark Mode of inheritance for gene: ZDHHC15 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.1622 ZDHHC15 Zornitza Stark Classified gene: ZDHHC15 as Red List (low evidence)
Mendeliome v0.1622 ZDHHC15 Zornitza Stark Gene: zdhhc15 has been classified as Red List (Low Evidence).
Mendeliome v0.1621 ZDHHC15 Zornitza Stark reviewed gene: ZDHHC15: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Mental retardation, X-linked 91, 300577; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.1621 ZBTB16 Zornitza Stark Marked gene: ZBTB16 as ready
Mendeliome v0.1621 ZBTB16 Zornitza Stark Gene: zbtb16 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1621 ZBTB16 Zornitza Stark Phenotypes for gene: ZBTB16 were changed from to Skeletal defects, genital hypoplasia, and mental retardation, OMIM #612447
Mendeliome v0.1620 ZBTB16 Zornitza Stark Publications for gene: ZBTB16 were set to
Mendeliome v0.1619 ZBTB16 Zornitza Stark Mode of inheritance for gene: ZBTB16 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1618 ZBTB16 Zornitza Stark Classified gene: ZBTB16 as Amber List (moderate evidence)
Mendeliome v0.1618 ZBTB16 Zornitza Stark Gene: zbtb16 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1617 ZBTB16 Zornitza Stark reviewed gene: ZBTB16: Rating: AMBER; Mode of pathogenicity: None; Publications: 18611983; Phenotypes: Skeletal defects, genital hypoplasia, and mental retardation, OMIM #612447; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1617 ZBTB11 Zornitza Stark Marked gene: ZBTB11 as ready
Mendeliome v0.1617 ZBTB11 Zornitza Stark Gene: zbtb11 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1617 ZBTB11 Zornitza Stark Phenotypes for gene: ZBTB11 were changed from to Intellectual developmental disorder, autosomal recessive 69, OMIM #618383
Mendeliome v0.1616 ZBTB11 Zornitza Stark Publications for gene: ZBTB11 were set to
Mendeliome v0.1615 ZBTB11 Zornitza Stark Mode of inheritance for gene: ZBTB11 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1614 ZBTB11 Zornitza Stark Classified gene: ZBTB11 as Amber List (moderate evidence)
Mendeliome v0.1614 ZBTB11 Zornitza Stark Gene: zbtb11 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1613 ZBTB11 Zornitza Stark reviewed gene: ZBTB11: Rating: AMBER; Mode of pathogenicity: None; Publications: 29893856; Phenotypes: Intellectual developmental disorder, autosomal recessive 69, OMIM #618383; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1613 WNT3 Zornitza Stark Marked gene: WNT3 as ready
Mendeliome v0.1613 WNT3 Zornitza Stark Gene: wnt3 has been classified as Red List (Low Evidence).
Mendeliome v0.1613 WNT3 Zornitza Stark Phenotypes for gene: WNT3 were changed from to Tetra-amelia syndrome 1, MIM# 273395
Mendeliome v0.1612 WNT3 Zornitza Stark Publications for gene: WNT3 were set to
Mendeliome v0.1611 WNT3 Zornitza Stark Mode of inheritance for gene: WNT3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1610 WNT3 Zornitza Stark Classified gene: WNT3 as Red List (low evidence)
Mendeliome v0.1610 WNT3 Zornitza Stark Gene: wnt3 has been classified as Red List (Low Evidence).
Mendeliome v0.1609 WNT3 Zornitza Stark reviewed gene: WNT3: Rating: RED; Mode of pathogenicity: None; Publications: 14872406; Phenotypes: Tetra-amelia syndrome 1, MIM# 273395; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1609 RS1 Zornitza Stark Gene: rs1 has been classified as Green List (High Evidence).
Mendeliome v0.1609 RS1 Zornitza Stark Phenotypes for gene: RS1 were changed from to Retinoschisis, MIM#312700
Mendeliome v0.1608 RS1 Zornitza Stark Publications for gene: RS1 were set to
Mendeliome v0.1607 RS1 Zornitza Stark Mode of inheritance for gene: RS1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.1606 SMC1A Zornitza Stark Gene: smc1a has been classified as Green List (High Evidence).
Mendeliome v0.1606 SMC1A Zornitza Stark Phenotypes for gene: SMC1A were changed from to Cornelia de Lange syndrome 2, MIM# 300590
Mendeliome v0.1605 SMC1A Zornitza Stark Publications for gene: SMC1A were set to
Mendeliome v0.1604 SMC1A Zornitza Stark Mode of inheritance for gene: SMC1A was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Mendeliome v0.1603 LOXHD1 Zornitza Stark Gene: loxhd1 has been classified as Green List (High Evidence).
Mendeliome v0.1603 AIRE Zornitza Stark Gene: aire has been classified as Green List (High Evidence).
Mendeliome v0.1603 AIRE Zornitza Stark Phenotypes for gene: AIRE were changed from to Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia, MIM#240300
Mendeliome v0.1602 AIRE Zornitza Stark Mode of pathogenicity for gene: AIRE was changed from to Other
Mendeliome v0.1601 AIRE Zornitza Stark Mode of inheritance for gene: AIRE was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.1600 AIRE Zornitza Stark Mode of inheritance for gene: AIRE was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1599 LOXHD1 Zornitza Stark Phenotypes for gene: LOXHD1 were changed from to Deafness, autosomal recessive 77, MIM# 613079
Mendeliome v0.1598 LOXHD1 Zornitza Stark Publications for gene: LOXHD1 were set to
Mendeliome v0.1597 LOXHD1 Zornitza Stark Mode of inheritance for gene: LOXHD1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1596 LOXHD1 Zornitza Stark reviewed gene: LOXHD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19732867, 25792669; Phenotypes: Deafness, autosomal recessive 77, MIM# 613079; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1596 WFS1 Zornitza Stark Gene: wfs1 has been classified as Green List (High Evidence).
Mendeliome v0.1596 WFS1 Zornitza Stark Phenotypes for gene: WFS1 were changed from to ?Cataract 41; Deafness, autosomal dominant 6/14/38; Wolfram syndrome, autosomal recessive 1; Wolfram-like syndrome, autosomal dominant; {Diabetes mellitus, noninsulin-dependent, association with}
Mendeliome v0.1595 WFS1 Zornitza Stark Publications for gene: WFS1 were set to
Mendeliome v0.1594 WFS1 Zornitza Stark Mode of inheritance for gene: WFS1 was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mendeliome v0.1593 ING3 Zornitza Stark Gene: ing3 has been classified as Red List (Low Evidence).
Mendeliome v0.1593 ING3 Zornitza Stark Classified gene: ING3 as Red List (low evidence)
Mendeliome v0.1593 ING3 Zornitza Stark Gene: ing3 has been classified as Red List (Low Evidence).
Mendeliome v0.1592 ING3 Zornitza Stark reviewed gene: ING3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.1592 SYN3 Zornitza Stark Gene: syn3 has been classified as Red List (Low Evidence).
Mendeliome v0.1592 SYN3 Zornitza Stark Classified gene: SYN3 as Red List (low evidence)
Mendeliome v0.1592 SYN3 Zornitza Stark Gene: syn3 has been classified as Red List (Low Evidence).
Mendeliome v0.1591 SYN3 Zornitza Stark reviewed gene: SYN3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.1591 SIM1 Zornitza Stark Gene: sim1 has been classified as Red List (Low Evidence).
Mendeliome v0.1591 SIM1 Zornitza Stark Classified gene: SIM1 as Red List (low evidence)
Mendeliome v0.1591 SIM1 Zornitza Stark Gene: sim1 has been classified as Red List (Low Evidence).
Mendeliome v0.1590 SIM1 Zornitza Stark reviewed gene: SIM1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.1590 RS1 Kristin Rigbye reviewed gene: RS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 15932525, 23453514, 23847049; Phenotypes: Retinoschisis, 312700; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.1590 SMC1A Melanie Marty reviewed gene: SMC1A: Rating: GREEN; Mode of pathogenicity: None; Publications: 17273969, 22106055, 19701948, 26752331, 28166369; Phenotypes: Cornelia de Lange syndrome 2 300590; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Mendeliome v0.1590 AIRE Teresa Zhao reviewed gene: AIRE: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1590 WFS1 Teresa Zhao reviewed gene: WFS1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 25211237; Phenotypes: ?Cataract 41, Deafness, autosomal dominant 6/14/38, Wolfram syndrome 1, Wolfram-like syndrome, autosomal dominant, {Diabetes mellitus, noninsulin-dependent, association with}; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mendeliome v0.1590 VARS Zornitza Stark Publications for gene: VARS were set to
Mendeliome v0.1589 VARS Zornitza Stark Mode of inheritance for gene: VARS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1588 VARS Zornitza Stark reviewed gene: VARS: Rating: GREEN; Mode of pathogenicity: None; Publications: 30755616, 30755602, 26539891, 29691655, 30275004; Phenotypes: Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy, OMIM #617802; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1588 KRT6A Zornitza Stark Marked gene: KRT6A as ready
Mendeliome v0.1588 KRT6A Zornitza Stark Gene: krt6a has been classified as Green List (High Evidence).
Mendeliome v0.1588 KRT6A Zornitza Stark Mode of pathogenicity for gene: KRT6A was changed from Other to Other
Mendeliome v0.1587 KRT6A Zornitza Stark Phenotypes for gene: KRT6A were changed from to Pachyonychia congenita 3 (MIM#615726)
Mendeliome v0.1586 KRT6A Zornitza Stark Publications for gene: KRT6A were set to
Mendeliome v0.1585 KRT6A Zornitza Stark Mode of pathogenicity for gene: KRT6A was changed from to Other
Mendeliome v0.1584 KRT6A Zornitza Stark Mode of inheritance for gene: KRT6A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.1583 TUBA8 Zornitza Stark Marked gene: TUBA8 as ready
Mendeliome v0.1583 TUBA8 Zornitza Stark Gene: tuba8 has been classified as Red List (Low Evidence).
Mendeliome v0.1583 TUBA8 Zornitza Stark Phenotypes for gene: TUBA8 were changed from to Cortical dysplasia, complex, with other brain malformations 8, MIM# 613180
Mendeliome v0.1582 TUBA8 Zornitza Stark Publications for gene: TUBA8 were set to
Mendeliome v0.1581 TUBA8 Zornitza Stark Mode of inheritance for gene: TUBA8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1580 TUBA8 Zornitza Stark Classified gene: TUBA8 as Red List (low evidence)
Mendeliome v0.1580 TUBA8 Zornitza Stark Gene: tuba8 has been classified as Red List (Low Evidence).
Mendeliome v0.1579 TUBA8 Zornitza Stark reviewed gene: TUBA8: Rating: RED; Mode of pathogenicity: None; Publications: 19896110, 31481326, 28388629; Phenotypes: Cortical dysplasia, complex, with other brain malformations 8, MIM# 613180; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1579 RPL26 Zornitza Stark Gene: rpl26 has been classified as Red List (Low Evidence).
Mendeliome v0.1579 RPL26 Zornitza Stark Phenotypes for gene: RPL26 were changed from to Diamond-Blackfan anemia 11, MIM# 614900
Mendeliome v0.1578 RPL26 Zornitza Stark Publications for gene: RPL26 were set to
Mendeliome v0.1577 RPL26 Zornitza Stark Mode of inheritance for gene: RPL26 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.1576 RPL26 Zornitza Stark Classified gene: RPL26 as Red List (low evidence)
Mendeliome v0.1576 RPL26 Zornitza Stark Gene: rpl26 has been classified as Red List (Low Evidence).
Mendeliome v0.1575 RPL26 Zornitza Stark reviewed gene: RPL26: Rating: RED; Mode of pathogenicity: None; Publications: 22431104; Phenotypes: Diamond-Blackfan anemia 11, MIM# 614900; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.1575 KRT6A Crystle Lee reviewed gene: KRT6A: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 21326300; Phenotypes: Pachyonychia congenita 3 (MIM#615726); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mendeliome v0.1575 ABCC6 Zornitza Stark Gene: abcc6 has been classified as Green List (High Evidence).
Mendeliome v0.1575 ABCC6 Zornitza Stark Phenotypes for gene: ABCC6 were changed from Pseudoxanthoma elasticum (MIM# 264800) to Pseudoxanthoma elasticum, MIM# 264800; Pseudoxanthoma elasticum, forme fruste, MIM#177850
Mendeliome v0.1574 ABCC6 Zornitza Stark Phenotypes for gene: ABCC6 were changed from to Pseudoxanthoma elasticum (MIM# 264800)
Mendeliome v0.1573 ABCC6 Zornitza Stark Publications for gene: ABCC6 were set to
Mendeliome v0.1572 ABCC6 Zornitza Stark Mode of inheritance for gene: ABCC6 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.1571 ABCC6 Zornitza Stark Mode of inheritance for gene: ABCC6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1570 ABCC6 Ain Roesley reviewed gene: ABCC6: Rating: ; Mode of pathogenicity: None; Publications: PMID: 11536079; Phenotypes: Pseudoxanthoma elasticum (MIM# 264800); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1570 TRIM8 Zornitza Stark Marked gene: TRIM8 as ready
Mendeliome v0.1570 TRIM8 Zornitza Stark Gene: trim8 has been classified as Green List (High Evidence).
Mendeliome v0.1570 TRIM8 Zornitza Stark Phenotypes for gene: TRIM8 were changed from to Intellectual disability; Seizures
Mendeliome v0.1569 TRIM8 Zornitza Stark Publications for gene: TRIM8 were set to
Mendeliome v0.1568 TRIM8 Zornitza Stark Mode of inheritance for gene: TRIM8 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.1567 TRIM8 Zornitza Stark reviewed gene: TRIM8: Rating: GREEN; Mode of pathogenicity: None; Publications: 30244534, 27346735, 23934111; Phenotypes: Intellectual disability, Seizures; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.1567 TPH2 Zornitza Stark Marked gene: TPH2 as ready
Mendeliome v0.1567 TPH2 Zornitza Stark Gene: tph2 has been classified as Red List (Low Evidence).
Mendeliome v0.1567 TPH2 Zornitza Stark Phenotypes for gene: TPH2 were changed from to {Attention deficit-hyperactivity disorder, susceptibility to, 7} 613003
Mendeliome v0.1566 TPH2 Zornitza Stark Publications for gene: TPH2 were set to
Mendeliome v0.1565 TPH2 Zornitza Stark Mode of inheritance for gene: TPH2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.1564 TPH2 Zornitza Stark Classified gene: TPH2 as Red List (low evidence)
Mendeliome v0.1564 TPH2 Zornitza Stark Gene: tph2 has been classified as Red List (Low Evidence).
Mendeliome v0.1563 TPH2 Zornitza Stark reviewed gene: TPH2: Rating: RED; Mode of pathogenicity: None; Publications: 18347598; Phenotypes: {Attention deficit-hyperactivity disorder, susceptibility to, 7} 613003; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.1563 SPOP Zornitza Stark Gene: spop has been classified as Green List (High Evidence).
Mendeliome v0.1563 SPOP Zornitza Stark Classified gene: SPOP as Green List (high evidence)
Mendeliome v0.1563 SPOP Zornitza Stark Gene: spop has been classified as Green List (High Evidence).
Mendeliome v0.1562 SPOP Zornitza Stark gene: SPOP was added
gene: SPOP was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: SPOP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SPOP were set to 32109420
Phenotypes for gene: SPOP were set to Intellectual disability; dysmorphism; microcephaly; macrocephaly
Mode of pathogenicity for gene: SPOP was set to Other
Review for gene: SPOP was set to GREEN
Added comment: Seven individuals reported with de novo missense variants in this gene. Gain-of-function variants associated with microcephaly whereas dominant-negative variants associated with macrocephaly.
Sources: Literature
Mendeliome v0.1561 TNIK Zornitza Stark Marked gene: TNIK as ready
Mendeliome v0.1561 TNIK Zornitza Stark Gene: tnik has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1561 TNIK Zornitza Stark Phenotypes for gene: TNIK were changed from to Mental retardation, autosomal recessive 54, MIM# 617028
Mendeliome v0.1560 TNIK Zornitza Stark Publications for gene: TNIK were set to
Mendeliome v0.1559 TNIK Zornitza Stark Mode of inheritance for gene: TNIK was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1558 TNIK Zornitza Stark Classified gene: TNIK as Amber List (moderate evidence)
Mendeliome v0.1558 TNIK Zornitza Stark Gene: tnik has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1557 TNIK Zornitza Stark reviewed gene: TNIK: Rating: AMBER; Mode of pathogenicity: None; Publications: 27106596, 23035106; Phenotypes: Mental retardation, autosomal recessive 54, MIM# 617028; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1557 TMLHE Zornitza Stark Marked gene: TMLHE as ready
Mendeliome v0.1557 TMLHE Zornitza Stark Gene: tmlhe has been classified as Green List (High Evidence).
Mendeliome v0.1557 TMLHE Zornitza Stark Phenotypes for gene: TMLHE were changed from to {Autism, susceptibility to, X-linked 6}, MIM#300872
Mendeliome v0.1556 TMLHE Zornitza Stark Publications for gene: TMLHE were set to
Mendeliome v0.1555 TMLHE Zornitza Stark Mode of inheritance for gene: TMLHE was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.1554 TMLHE Zornitza Stark reviewed gene: TMLHE: Rating: GREEN; Mode of pathogenicity: None; Publications: 21865298; Phenotypes: {Autism, susceptibility to, X-linked 6}, MIM#300872; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.1554 TMEM94 Zornitza Stark Marked gene: TMEM94 as ready
Mendeliome v0.1554 TMEM94 Zornitza Stark Gene: tmem94 has been classified as Green List (High Evidence).
Mendeliome v0.1554 TMEM94 Zornitza Stark Classified gene: TMEM94 as Green List (high evidence)
Mendeliome v0.1554 TMEM94 Zornitza Stark Gene: tmem94 has been classified as Green List (High Evidence).
Mendeliome v0.1553 TMEM94 Zornitza Stark gene: TMEM94 was added
gene: TMEM94 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: TMEM94 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TMEM94 were set to 30526868
Phenotypes for gene: TMEM94 were set to Intellectual developmental disorder with cardiac defects and dysmorphic facies, MIM#618316
Review for gene: TMEM94 was set to GREEN
Added comment: 10 individuals from 6 unrelated families.
Sources: Expert list
Mendeliome v0.1552 TMEM260 Zornitza Stark Marked gene: TMEM260 as ready
Mendeliome v0.1552 TMEM260 Zornitza Stark Gene: tmem260 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1552 TMEM260 Zornitza Stark Phenotypes for gene: TMEM260 were changed from to Structural heart defects and renal anomalies syndrome, MIM# 617478
Mendeliome v0.1551 TMEM260 Zornitza Stark Publications for gene: TMEM260 were set to
Mendeliome v0.1550 TMEM260 Zornitza Stark Mode of inheritance for gene: TMEM260 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1549 TMEM260 Zornitza Stark Classified gene: TMEM260 as Amber List (moderate evidence)
Mendeliome v0.1549 TMEM260 Zornitza Stark Gene: tmem260 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1548 TMEM260 Zornitza Stark reviewed gene: TMEM260: Rating: AMBER; Mode of pathogenicity: None; Publications: 28318500; Phenotypes: Structural heart defects and renal anomalies syndrome, MIM# 617478; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1548 TKT Zornitza Stark Marked gene: TKT as ready
Mendeliome v0.1548 TKT Zornitza Stark Gene: tkt has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1548 TKT Zornitza Stark Phenotypes for gene: TKT were changed from to Short stature, developmental delay, and congenital heart defects; OMIM #617044
Mendeliome v0.1547 TKT Zornitza Stark Publications for gene: TKT were set to
Mendeliome v0.1546 TKT Zornitza Stark Mode of inheritance for gene: TKT was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1545 TKT Zornitza Stark Classified gene: TKT as Amber List (moderate evidence)
Mendeliome v0.1545 TKT Zornitza Stark Gene: tkt has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1544 TKT Zornitza Stark reviewed gene: TKT: Rating: AMBER; Mode of pathogenicity: None; Publications: 27259054; Phenotypes: Short stature, developmental delay, and congenital heart defects, OMIM #617044; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1544 TELO2 Zornitza Stark Marked gene: TELO2 as ready
Mendeliome v0.1544 TELO2 Zornitza Stark Gene: telo2 has been classified as Green List (High Evidence).
Mendeliome v0.1544 TELO2 Zornitza Stark Phenotypes for gene: TELO2 were changed from to You-Hoover-Fong syndrome, MIM#616954; Syndromic intellectual disability
Mendeliome v0.1543 TELO2 Zornitza Stark Publications for gene: TELO2 were set to
Mendeliome v0.1542 TELO2 Zornitza Stark Mode of inheritance for gene: TELO2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1541 TELO2 Zornitza Stark reviewed gene: TELO2: Rating: GREEN; Mode of pathogenicity: None; Publications: 27132593, 28944240; Phenotypes: You-Hoover-Fong syndrome, MIM#616954, Syndromic intellectual disability; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1541 TECR Zornitza Stark Marked gene: TECR as ready
Mendeliome v0.1541 TECR Zornitza Stark Gene: tecr has been classified as Red List (Low Evidence).
Mendeliome v0.1541 TECR Zornitza Stark Phenotypes for gene: TECR were changed from to Mental retardation, autosomal recessive, MIM#614020
Mendeliome v0.1540 TECR Zornitza Stark Publications for gene: TECR were set to
Mendeliome v0.1539 TECR Zornitza Stark Mode of inheritance for gene: TECR was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1538 TECR Zornitza Stark Classified gene: TECR as Red List (low evidence)
Mendeliome v0.1538 TECR Zornitza Stark Gene: tecr has been classified as Red List (Low Evidence).
Mendeliome v0.1537 TECR Zornitza Stark reviewed gene: TECR: Rating: RED; Mode of pathogenicity: None; Publications: 21212097; Phenotypes: Mental retardation, autosomal recessive, MIM#614020; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1537 TBC1D7 Zornitza Stark Marked gene: TBC1D7 as ready
Mendeliome v0.1537 TBC1D7 Zornitza Stark Gene: tbc1d7 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1537 TBC1D7 Zornitza Stark Phenotypes for gene: TBC1D7 were changed from to Macrocephaly/megalencephaly syndrome, autosomal recessive, MIM# 248000
Mendeliome v0.1536 TBC1D7 Zornitza Stark Publications for gene: TBC1D7 were set to
Mendeliome v0.1535 TBC1D7 Zornitza Stark Mode of inheritance for gene: TBC1D7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1534 TBC1D7 Zornitza Stark Classified gene: TBC1D7 as Amber List (moderate evidence)
Mendeliome v0.1534 TBC1D7 Zornitza Stark Gene: tbc1d7 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1533 TBC1D7 Zornitza Stark reviewed gene: TBC1D7: Rating: AMBER; Mode of pathogenicity: None; Publications: 24515783, 23687350; Phenotypes: Macrocephaly/megalencephaly syndrome, autosomal recessive, MIM# 248000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1533 TAF2 Zornitza Stark Marked gene: TAF2 as ready
Mendeliome v0.1533 TAF2 Zornitza Stark Gene: taf2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1533 TAF2 Zornitza Stark Phenotypes for gene: TAF2 were changed from to Mental retardation, autosomal recessive 40, MIM# 615599
Mendeliome v0.1532 TAF2 Zornitza Stark Publications for gene: TAF2 were set to
Mendeliome v0.1531 TAF2 Zornitza Stark Mode of inheritance for gene: TAF2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1530 TAF2 Zornitza Stark Classified gene: TAF2 as Amber List (moderate evidence)
Mendeliome v0.1530 TAF2 Zornitza Stark Gene: taf2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1529 TAF2 Zornitza Stark reviewed gene: TAF2: Rating: AMBER; Mode of pathogenicity: None; Publications: 21937992, 22633631, 26350204; Phenotypes: Mental retardation, autosomal recessive 40, MIM# 615599; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1529 TAF13 Zornitza Stark Marked gene: TAF13 as ready
Mendeliome v0.1529 TAF13 Zornitza Stark Gene: taf13 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1529 TAF13 Zornitza Stark Phenotypes for gene: TAF13 were changed from to Mental retardation, autosomal recessive 60, MIM# 617432
Mendeliome v0.1528 TAF13 Zornitza Stark Publications for gene: TAF13 were set to
Mendeliome v0.1527 TAF13 Zornitza Stark Mode of inheritance for gene: TAF13 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1526 TAF13 Zornitza Stark Classified gene: TAF13 as Amber List (moderate evidence)
Mendeliome v0.1526 TAF13 Zornitza Stark Gene: taf13 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1525 TAF13 Zornitza Stark reviewed gene: TAF13: Rating: AMBER; Mode of pathogenicity: None; Publications: 28257693; Phenotypes: Mental retardation, autosomal recessive 60, MIM# 617432; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1525 SYT14 Zornitza Stark Marked gene: SYT14 as ready
Mendeliome v0.1525 SYT14 Zornitza Stark Gene: syt14 has been classified as Red List (Low Evidence).
Mendeliome v0.1525 SYT14 Zornitza Stark Phenotypes for gene: SYT14 were changed from to Spinocerebellar ataxia, autosomal recessive 11, MIM# 614229
Mendeliome v0.1524 SYT14 Zornitza Stark Publications for gene: SYT14 were set to
Mendeliome v0.1523 SYT14 Zornitza Stark Mode of inheritance for gene: SYT14 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1522 SYT14 Zornitza Stark Classified gene: SYT14 as Red List (low evidence)
Mendeliome v0.1522 SYT14 Zornitza Stark Gene: syt14 has been classified as Red List (Low Evidence).
Mendeliome v0.1521 SYT14 Zornitza Stark reviewed gene: SYT14: Rating: RED; Mode of pathogenicity: None; Publications: 21835308; Phenotypes: Spinocerebellar ataxia, autosomal recessive 11, MIM# 614229; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1521 SRPX2 Zornitza Stark Gene: srpx2 has been classified as Red List (Low Evidence).
Mendeliome v0.1521 SRPX2 Zornitza Stark Phenotypes for gene: SRPX2 were changed from to Rolandic epilepsy, mental retardation, and speech dyspraxia, MIM# 300643
Mendeliome v0.1520 SRPX2 Zornitza Stark Publications for gene: SRPX2 were set to
Mendeliome v0.1519 SRPX2 Zornitza Stark Mode of inheritance for gene: SRPX2 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.1518 SRPX2 Zornitza Stark Classified gene: SRPX2 as Red List (low evidence)
Mendeliome v0.1518 SRPX2 Zornitza Stark Gene: srpx2 has been classified as Red List (Low Evidence).
Mendeliome v0.1517 SRPX2 Zornitza Stark reviewed gene: SRPX2: Rating: RED; Mode of pathogenicity: None; Publications: 16497722, 23933820, 23871722; Phenotypes: Rolandic epilepsy, mental retardation, and speech dyspraxia, MIM# 300643; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.1517 SPRTN Zornitza Stark Marked gene: SPRTN as ready
Mendeliome v0.1517 SPRTN Zornitza Stark Gene: sprtn has been classified as Green List (High Evidence).
Mendeliome v0.1517 SPRTN Zornitza Stark Phenotypes for gene: SPRTN were changed from to Ruijs-Aalfs syndrome, MIM# 616200
Mendeliome v0.1516 SPRTN Zornitza Stark Publications for gene: SPRTN were set to
Mendeliome v0.1515 SPRTN Zornitza Stark Mode of inheritance for gene: SPRTN was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1514 SPRTN Zornitza Stark reviewed gene: SPRTN: Rating: GREEN; Mode of pathogenicity: None; Publications: 25261934; Phenotypes: Ruijs-Aalfs syndrome, MIM# 616200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1514 MC4R Zornitza Stark Gene: mc4r has been classified as Green List (High Evidence).
Mendeliome v0.1514 MC4R Zornitza Stark Phenotypes for gene: MC4R were changed from to {Obesity, resistence to (BMIQ20)} 618306; Obesity (BMIQ20) 618406 AD, AR
Mendeliome v0.1513 MC4R Zornitza Stark Publications for gene: MC4R were set to
Mendeliome v0.1512 MC4R Zornitza Stark Mode of inheritance for gene: MC4R was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mendeliome v0.1511 KMT2A Zornitza Stark Marked gene: KMT2A as ready
Mendeliome v0.1511 KMT2A Zornitza Stark Gene: kmt2a has been classified as Green List (High Evidence).
Mendeliome v0.1511 KMT2A Zornitza Stark Phenotypes for gene: KMT2A were changed from to Wiedemann-Steiner syndrome, MIM# 605130 AD
Mendeliome v0.1510 KMT2A Zornitza Stark Publications for gene: KMT2A were set to
Mendeliome v0.1509 KMT2A Zornitza Stark Mode of inheritance for gene: KMT2A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.1508 RBM20 Zornitza Stark Gene: rbm20 has been classified as Green List (High Evidence).
Mendeliome v0.1508 RBM20 Zornitza Stark Phenotypes for gene: RBM20 were changed from to Cardiomyopathy, dilated, 1DD 613172 AD
Mendeliome v0.1507 RBM20 Zornitza Stark Publications for gene: RBM20 were set to
Mendeliome v0.1506 RBM20 Zornitza Stark Mode of inheritance for gene: RBM20 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.1505 RBM20 Zornitza Stark reviewed gene: RBM20: Rating: GREEN; Mode of pathogenicity: None; Publications: 30871351; Phenotypes: Cardiomyopathy, dilated, 1DD 613172 AD; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.1505 SLC52A1 Zornitza Stark Added comment: Comment when marking as ready: Essentially only one family.
Mendeliome v0.1505 SLC52A1 Zornitza Stark Gene: slc52a1 has been classified as Red List (Low Evidence).
Mendeliome v0.1505 SLC52A1 Zornitza Stark Gene: slc52a1 has been classified as Red List (Low Evidence).
Mendeliome v0.1505 SLC52A1 Zornitza Stark Phenotypes for gene: SLC52A1 were changed from to Riboflavin deficiency, 615026
Mendeliome v0.1504 SLC52A1 Zornitza Stark Publications for gene: SLC52A1 were set to
Mendeliome v0.1503 SLC52A1 Zornitza Stark Mode of inheritance for gene: SLC52A1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.1502 SLC52A1 Zornitza Stark Classified gene: SLC52A1 as Red List (low evidence)
Mendeliome v0.1502 SLC52A1 Zornitza Stark Gene: slc52a1 has been classified as Red List (Low Evidence).
Mendeliome v0.1501 PTCH2 Zornitza Stark reviewed gene: PTCH2: Rating: RED; Mode of pathogenicity: None; Publications: 30820324, 23479190, 18285427; Phenotypes: Basal cell nevus syndrome, MIM#109400; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.1501 PTCH2 Zornitza Stark Publications for gene: PTCH2 were set to 30820324
Mendeliome v0.1500 PTCH2 Zornitza Stark Marked gene: PTCH2 as ready
Mendeliome v0.1500 PTCH2 Zornitza Stark Gene: ptch2 has been classified as Red List (Low Evidence).
Mendeliome v0.1500 PTCH2 Zornitza Stark Phenotypes for gene: PTCH2 were changed from to Basal cell carcinoma, somatic 605462; Basal cell nevus syndrome, 109400; Medulloblastoma, somatic
Mendeliome v0.1499 PTCH2 Zornitza Stark Publications for gene: PTCH2 were set to
Mendeliome v0.1498 PTCH2 Zornitza Stark Mode of inheritance for gene: PTCH2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.1497 PTCH2 Zornitza Stark Classified gene: PTCH2 as Red List (low evidence)
Mendeliome v0.1497 PTCH2 Zornitza Stark Gene: ptch2 has been classified as Red List (Low Evidence).
Mendeliome v0.1496 ZNF592 Chern Lim changed review comment from: No patients reported with ZNF592 variant that is clearly disease causing.

A 2010 paper published a biallelic missense variant segregating in one family with non-progressive, autosomal recessive, congenital cerebellar ataxia; however functional data not strongly supportive of pathogenicity (PMID: 20531441). Same authors later identified a homozygous WDR73 variant in that family which explains the phenotype (PMID: 26123727).; to: No patients reported with ZNF592 variant that is clearly disease causing.

A 2010 paper published a biallelic missense variant segregating in one family with non-progressive, autosomal recessive, congenital cerebellar ataxia; however functional data not strongly conclusive for pathogenicity (PMID: 20531441). Same authors later identified a homozygous WDR73 variant in that family which explains the phenotype (PMID: 26123727).
Mendeliome v0.1496 ZNF592 Chern Lim reviewed gene: ZNF592: Rating: RED; Mode of pathogenicity: None; Publications: 20531441, 26123727; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.1496 COL2A1 Zornitza Stark Gene: col2a1 has been classified as Green List (High Evidence).
Mendeliome v0.1496 COL2A1 Zornitza Stark Phenotypes for gene: COL2A1 were changed from to Achondrogenesis, type II or hypochondrogenesis 200610; Avascular necrosis of the femoral head 608805; Czech dysplasia 609162; Epiphyseal dysplasia, multiple, with myopia and deafness 132450; Kniest dysplasia 156550; Legg-Calve-Perthes disease 150600; Osteoarthritis with mild chondrodysplasia 604864; Platyspondylic skeletal dysplasia, Torrance type 151210; SED congenita 183900; SMED Strudwick type 184250; Spondyloepiphyseal dysplasia, Stanescu type 616583; Spondyloperipheral dysplasia 271700; Stickler sydrome, type I, nonsyndromic ocular 609508; Stickler syndrome, type I 108300; Vitreoretinopathy with phalangeal epiphyseal dysplasia
Mendeliome v0.1495 COL2A1 Zornitza Stark Publications for gene: COL2A1 were set to
Mendeliome v0.1494 COL2A1 Zornitza Stark Mode of inheritance for gene: COL2A1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.1493 DNMT1 Zornitza Stark Marked gene: DNMT1 as ready
Mendeliome v0.1493 DNMT1 Zornitza Stark Gene: dnmt1 has been classified as Green List (High Evidence).
Mendeliome v0.1493 DNMT1 Zornitza Stark Phenotypes for gene: DNMT1 were changed from to Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant, 604121; Neuropathy, hereditary sensory, type IE, 614116
Mendeliome v0.1492 DNMT1 Zornitza Stark Publications for gene: DNMT1 were set to
Mendeliome v0.1491 DNMT1 Zornitza Stark Mode of inheritance for gene: DNMT1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.1490 CEP135 Zornitza Stark Gene: cep135 has been classified as Green List (High Evidence).
Mendeliome v0.1490 CEP135 Zornitza Stark Phenotypes for gene: CEP135 were changed from to Microcephalic primordial dwarfism; Microcephaly 8, primary, autosomal recessive, 614673
Mendeliome v0.1489 CEP135 Zornitza Stark Publications for gene: CEP135 were set to
Mendeliome v0.1488 CEP135 Zornitza Stark Mode of inheritance for gene: CEP135 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1487 CYP21A2 Zornitza Stark Added comment: Comment when marking as ready: Beware pseudogene and structural variants make NGS data difficult to interpret.
Mendeliome v0.1487 CYP21A2 Zornitza Stark Gene: cyp21a2 has been classified as Green List (High Evidence).
Mendeliome v0.1487 CYP21A2 Zornitza Stark Phenotypes for gene: CYP21A2 were changed from to Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency, 201910; Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency, 201910
Mendeliome v0.1486 CYP21A2 Zornitza Stark Tag SV/CNV tag was added to gene: CYP21A2.
Mendeliome v0.1486 CYP21A2 Zornitza Stark Mode of inheritance for gene: CYP21A2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1485 CDK13 Zornitza Stark Gene: cdk13 has been classified as Green List (High Evidence).
Mendeliome v0.1485 CDK13 Zornitza Stark Phenotypes for gene: CDK13 were changed from to Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder, MIM#617360
Mendeliome v0.1484 CDK13 Zornitza Stark Publications for gene: CDK13 were set to
Mendeliome v0.1483 CDK13 Zornitza Stark Mode of inheritance for gene: CDK13 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.1482 CDK13 Zornitza Stark reviewed gene: CDK13: Rating: GREEN; Mode of pathogenicity: None; Publications: 29021403, 29393965, 30904094; Phenotypes: Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder, MIM#617360; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.1482 F13B Zornitza Stark Gene: f13b has been classified as Green List (High Evidence).
Mendeliome v0.1482 F13B Zornitza Stark Phenotypes for gene: F13B were changed from to Factor XIIIB deficiency, 613235
Mendeliome v0.1481 F13B Zornitza Stark Publications for gene: F13B were set to
Mendeliome v0.1480 F13B Zornitza Stark Mode of inheritance for gene: F13B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1479 FMO3 Zornitza Stark changed review comment from: Comment when marking as ready: Inborn error of metabolism accompanied by fish-like body odor resulting from deficiency of dimethylglycine dehydrogenase; to: Comment when marking as ready: Inborn error of metabolism accompanied by fish-like body odour resulting from deficiency of dimethylglycine dehydrogenase
Mendeliome v0.1479 FMO3 Zornitza Stark Added comment: Comment when marking as ready: Inborn error of metabolism accompanied by fish-like body odor resulting from deficiency of dimethylglycine dehydrogenase
Mendeliome v0.1479 FMO3 Zornitza Stark Gene: fmo3 has been classified as Green List (High Evidence).
Mendeliome v0.1479 FMO3 Zornitza Stark Phenotypes for gene: FMO3 were changed from to Trimethylaminuria, MIM#602079
Mendeliome v0.1478 FMO3 Zornitza Stark Publications for gene: FMO3 were set to
Mendeliome v0.1477 FMO3 Zornitza Stark Mode of inheritance for gene: FMO3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1476 PNPLA6 Zornitza Stark Gene: pnpla6 has been classified as Green List (High Evidence).
Mendeliome v0.1476 PNPLA6 Zornitza Stark Phenotypes for gene: PNPLA6 were changed from to Boucher-Neuhauser syndrome, 215470; ?Laurence-Moon syndrome, 245800; Oliver-McFarlane syndrome, 275400; Spastic paraplegia 39, autosomal recessive, 612020
Mendeliome v0.1475 PNPLA6 Zornitza Stark Publications for gene: PNPLA6 were set to
Mendeliome v0.1474 PNPLA6 Zornitza Stark Mode of inheritance for gene: PNPLA6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1473 MC4R Michelle Torres reviewed gene: MC4R: Rating: GREEN; Mode of pathogenicity: None; Publications: 29970488; Phenotypes: {Obesity, resistence to (BMIQ20)} 618306, Obesity (BMIQ20) 618406 AD, AR; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.1473 KMT2A Michelle Torres reviewed gene: KMT2A: Rating: GREEN; Mode of pathogenicity: None; Publications: 16990798; Phenotypes: Leukemia, myeloid/lymphoid or mixed-lineage 159555 AD, Wiedemann-Steiner syndrome 605130 AD; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Mendeliome v0.1473 SLC52A1 Kristin Rigbye reviewed gene: SLC52A1: Rating: RED; Mode of pathogenicity: None; Publications: 29122468, 17689999; Phenotypes: Riboflavin deficiency, 615026; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.1473 SLC52A1 Kristin Rigbye Deleted their review
Mendeliome v0.1473 PTCH2 Kristin Rigbye reviewed gene: PTCH2: Rating: RED; Mode of pathogenicity: None; Publications: 30820324; Phenotypes: Basal cell carcinoma, somatic 605462, Basal cell nevus syndrome, 109400, Medulloblastoma, somatic; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.1473 PTCH2 Kristin Rigbye Deleted their review
Mendeliome v0.1473 COL2A1 Elena Savva reviewed gene: COL2A1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 15895462, 17721977, 27234559, 20179744; Phenotypes: Achondrogenesis, type II or hypochondrogenesis 200610, Avascular necrosis of the femoral head 608805, Czech dysplasia 609162, Epiphyseal dysplasia, multiple, with myopia and deafness 132450, Kniest dysplasia 156550, Legg-Calve-Perthes disease 150600, Osteoarthritis with mild chondrodysplasia 604864, Platyspondylic skeletal dysplasia, Torrance type 151210, SED congenita 183900, SMED Strudwick type 184250, Spondyloepiphyseal dysplasia, Stanescu type 616583, Spondyloperipheral dysplasia 271700, Stickler sydrome, type I, nonsyndromic ocular 609508, Stickler syndrome, type I 108300, Vitreoretinopathy with phalangeal epiphyseal dysplasia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Mendeliome v0.1473 DNMT1 Elena Savva reviewed gene: DNMT1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 22328086, 21532572; Phenotypes: Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant, 604121, Neuropathy, hereditary sensory, type IE, 614116; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.1473 CEP135 Elena Savva reviewed gene: CEP135: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30214071, 22521416; Phenotypes: Microcephalic primordial dwarfism, Microcephaly 8, primary, autosomal recessive, 614673; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1473 CEP135 Elena Savva Deleted their review
Mendeliome v0.1473 CEP135 Elena Savva Deleted their comment
Mendeliome v0.1473 CEP135 Elena Savva changed review comment from: Microcephalic primordial dwarfism - single case

Incomplete NMD shown, LOF mechanism; to: Microcephalic primordial dwarfism - single case

Incomplete NMD shown, LOF mechanism
Mendeliome v0.1473 CEP135 Elena Savva reviewed gene: CEP135: Rating: ; Mode of pathogenicity: None; Publications: PMID: 30214071, 22521416; Phenotypes: Microcephalic primordial dwarfism, Microcephaly 8, primary, autosomal recessive, 614673; Mode of inheritance: None
Mendeliome v0.1473 CYP21A2 Elena Savva reviewed gene: CYP21A2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency, 201910, Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency, 201910; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1473 F13B Elena Savva reviewed gene: F13B: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 20331752, 26247044; Phenotypes: Factor XIIIB deficiency, 613235; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1473 FMO3 Elena Savva reviewed gene: FMO3: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 28649550, 31240165; Phenotypes: Trimethylaminuria; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1473 PNPLA6 Elena Savva reviewed gene: PNPLA6: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 25480986, 24355708; Phenotypes: Boucher-Neuhauser syndrome, 215470, ?Laurence-Moon syndrome, 245800, Oliver-McFarlane syndrome, 275400, Spastic paraplegia 39, autosomal recessive, 612020; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1473 CEP85L Zornitza Stark gene: CEP85L was added
gene: CEP85L was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: CEP85L was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CEP85L were set to 32097630
Phenotypes for gene: CEP85L were set to Lissencephaly, posterior predominant
Review for gene: CEP85L was set to GREEN
Added comment: Thirteen individuals reported with mono allelic variants in this gene, inherited in two of the families. Mouse model had neuronal migration defects.
Sources: Literature
Mendeliome v0.1472 COX4I2 Zornitza Stark Classified gene: COX4I2 as Red List (low evidence)
Mendeliome v0.1472 COX4I2 Zornitza Stark Gene: cox4i2 has been classified as Red List (Low Evidence).
Mendeliome v0.1471 COX4I2 Zornitza Stark edited their review of gene: COX4I2: Added comment: Glu138Lys present in 3 homozygotes in gnomad, wich is out of keeping for this rare metabolic disorder. Note no other variants reported in this gene since original report in 2009. All variants submitted to ClinVar are VOUS/LB/B.; Changed rating: RED
Mendeliome v0.1471 SOBP Zornitza Stark Gene: sobp has been classified as Red List (Low Evidence).
Mendeliome v0.1471 SOBP Zornitza Stark Phenotypes for gene: SOBP were changed from to Mental retardation, anterior maxillary protrusion, and strabismus, MIM# 613671
Mendeliome v0.1470 SOBP Zornitza Stark Publications for gene: SOBP were set to
Mendeliome v0.1469 SOBP Zornitza Stark Mode of inheritance for gene: SOBP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1468 SOBP Zornitza Stark Classified gene: SOBP as Red List (low evidence)
Mendeliome v0.1468 SOBP Zornitza Stark Gene: sobp has been classified as Red List (Low Evidence).
Mendeliome v0.1467 SOBP Zornitza Stark reviewed gene: SOBP: Rating: RED; Mode of pathogenicity: None; Publications: 21035105; Phenotypes: Mental retardation, anterior maxillary protrusion, and strabismus, MIM# 613671; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1467 SNIP1 Zornitza Stark Gene: snip1 has been classified as Red List (Low Evidence).
Mendeliome v0.1467 SNIP1 Zornitza Stark Phenotypes for gene: SNIP1 were changed from to Psychomotor retardation, epilepsy, and craniofacial dysmorphism, 614501
Mendeliome v0.1466 SNIP1 Zornitza Stark Publications for gene: SNIP1 were set to
Mendeliome v0.1465 SNIP1 Zornitza Stark Mode of inheritance for gene: SNIP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1464 SNIP1 Zornitza Stark Classified gene: SNIP1 as Red List (low evidence)
Mendeliome v0.1464 SNIP1 Zornitza Stark Gene: snip1 has been classified as Red List (Low Evidence).
Mendeliome v0.1463 SNIP1 Zornitza Stark reviewed gene: SNIP1: Rating: RED; Mode of pathogenicity: None; Publications: 22279524; Phenotypes: Psychomotor retardation, epilepsy, and craniofacial dysmorphism, 614501; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1463 SMG9 Zornitza Stark Gene: smg9 has been classified as Green List (High Evidence).
Mendeliome v0.1463 SMG9 Zornitza Stark Phenotypes for gene: SMG9 were changed from to Heart and brain malformation syndrome, MIM# 616920
Mendeliome v0.1462 SMG9 Zornitza Stark Publications for gene: SMG9 were set to
Mendeliome v0.1461 SMG9 Zornitza Stark Mode of inheritance for gene: SMG9 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1460 SMG9 Zornitza Stark reviewed gene: SMG9: Rating: GREEN; Mode of pathogenicity: None; Publications: 27018474, 31390136; Phenotypes: Heart and brain malformation syndrome, MIM# 616920; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1460 TMPRSS3 Zornitza Stark Marked gene: TMPRSS3 as ready
Mendeliome v0.1460 TMPRSS3 Zornitza Stark Gene: tmprss3 has been classified as Green List (High Evidence).
Mendeliome v0.1460 TMPRSS3 Zornitza Stark Publications for gene: TMPRSS3 were set to
Mendeliome v0.1459 TMPRSS3 Zornitza Stark Phenotypes for gene: TMPRSS3 were changed from to Deafness, autosomal recessive 8/10, MIM#601072
Mendeliome v0.1458 TMPRSS3 Zornitza Stark Mode of inheritance for gene: TMPRSS3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1457 TMPRSS3 Zornitza Stark reviewed gene: TMPRSS3: Rating: GREEN; Mode of pathogenicity: None; Publications: 21786053, 17551081; Phenotypes: Deafness, autosomal recessive 8/10, MIM#601072; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1457 POU3F4 Zornitza Stark Gene: pou3f4 has been classified as Green List (High Evidence).
Mendeliome v0.1457 POU3F4 Zornitza Stark Phenotypes for gene: POU3F4 were changed from to Deafness, X-linked 2, MIM#304400
Mendeliome v0.1456 POU3F4 Zornitza Stark Publications for gene: POU3F4 were set to
Mendeliome v0.1455 POU3F4 Zornitza Stark Mode of inheritance for gene: POU3F4 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.1454 SLIT2 Zornitza Stark Marked gene: SLIT2 as ready
Mendeliome v0.1454 SLIT2 Zornitza Stark Gene: slit2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1454 SLIT2 Zornitza Stark Phenotypes for gene: SLIT2 were changed from to CAKUT
Mendeliome v0.1453 SLIT2 Zornitza Stark Publications for gene: SLIT2 were set to
Mendeliome v0.1452 SLIT2 Zornitza Stark Mode of inheritance for gene: SLIT2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.1451 SLIT2 Zornitza Stark Classified gene: SLIT2 as Amber List (moderate evidence)
Mendeliome v0.1451 SLIT2 Zornitza Stark Gene: slit2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1450 SLIT2 Zornitza Stark reviewed gene: SLIT2: Rating: AMBER; Mode of pathogenicity: None; Publications: 26026792, 15130495; Phenotypes: CAKUT; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.1450 CEL Zornitza Stark Gene: cel has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1450 CEL Zornitza Stark Phenotypes for gene: CEL were changed from to Maturity-onset diabetes of the young, type VIII
Mendeliome v0.1449 CEL Zornitza Stark Publications for gene: CEL were set to
Mendeliome v0.1448 CEL Zornitza Stark Mode of inheritance for gene: CEL was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.1447 CEL Zornitza Stark Classified gene: CEL as Amber List (moderate evidence)
Mendeliome v0.1447 CEL Zornitza Stark Gene: cel has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1446 CEL Zornitza Stark reviewed gene: CEL: Rating: AMBER; Mode of pathogenicity: None; Publications: 24062244, 21784842, 19760265, 18544793, 17989309, 16369531, 29233499, 27650499; Phenotypes: Maturity-onset diabetes of the young, type VIII; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.1446 WDR81 Zornitza Stark Gene: wdr81 has been classified as Green List (High Evidence).
Mendeliome v0.1446 WDR81 Zornitza Stark Phenotypes for gene: WDR81 were changed from to Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2, 610185; Hydrocephalus, congenital, 3, with brain anomalies, 617967
Mendeliome v0.1445 WDR81 Zornitza Stark Publications for gene: WDR81 were set to
Mendeliome v0.1444 WDR81 Zornitza Stark Mode of inheritance for gene: WDR81 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1443 ARSG Zornitza Stark Gene: arsg has been classified as Red List (Low Evidence).
Mendeliome v0.1443 ARSG Zornitza Stark gene: ARSG was added
gene: ARSG was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: ARSG was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ARSG were set to 29300381; 20679209; 25452429; 26975023
Phenotypes for gene: ARSG were set to Usher syndrome, type IV, MIM# 618144
Review for gene: ARSG was set to RED
Added comment: Atypical late-onset RP/HL phenotype described in 5 individuals from three Yemenite Jewish families. Same homozygous missense variant identified in all, founder effect. Animal models associated with neuronal ceroid lipofuscinosis.
Sources: Expert list
Mendeliome v0.1442 OTOF Zornitza Stark Marked gene: OTOF as ready
Mendeliome v0.1442 OTOF Zornitza Stark Gene: otof has been classified as Green List (High Evidence).
Mendeliome v0.1442 OTOF Zornitza Stark Phenotypes for gene: OTOF were changed from to Auditory neuropathy, autosomal recessive, 1 (MIM # 601071); Deafness, autosomal recessive 9 (MIM # 601071)
Mendeliome v0.1441 OTOF Zornitza Stark Publications for gene: OTOF were set to
Mendeliome v0.1440 OTOF Zornitza Stark Mode of inheritance for gene: OTOF was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1439 OTOF Zornitza Stark reviewed gene: OTOF: Rating: GREEN; Mode of pathogenicity: None; Publications: 16371502, 22906306; Phenotypes: Auditory neuropathy, autosomal recessive, 1 (MIM # 601071), Deafness, autosomal recessive 9 (MIM # 601071); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1439 MYL1 Bryony Thompson Classified gene: MYL1 as Amber List (moderate evidence)
Mendeliome v0.1439 MYL1 Bryony Thompson Gene: myl1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1438 MYL1 Bryony Thompson gene: MYL1 was added
gene: MYL1 was added to Mendeliome. Sources: NHS GMS
Mode of inheritance for gene: MYL1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MYL1 were set to 30215711
Phenotypes for gene: MYL1 were set to Myopathy, congenital, with fast-twitch (type II) fiber atrophy MIM#618414
Review for gene: MYL1 was set to AMBER
Added comment: Two probands with congenital myopathy and a zebrafish model. Probably need one more family to push it over the line.
Sources: NHS GMS
Mendeliome v0.1437 FXR1 Bryony Thompson Classified gene: FXR1 as Green List (high evidence)
Mendeliome v0.1437 FXR1 Bryony Thompson Added comment: Comment on list classification: Only two families, but a lot of functional supporting evidence including a mouse model. Pathogenic variants likely to be found in exon 15 of the skeletal muscle isoform, specifically.
Mendeliome v0.1437 FXR1 Bryony Thompson Gene: fxr1 has been classified as Green List (High Evidence).
Mendeliome v0.1436 FXR1 Bryony Thompson gene: FXR1 was added
gene: FXR1 was added to Mendeliome. Sources: NHS GMS
Mode of inheritance for gene: FXR1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FXR1 were set to 30770808
Phenotypes for gene: FXR1 were set to Congenital multi-minicore myopathy
Review for gene: FXR1 was set to GREEN
Added comment: Two unrelated families and a mouse model with non-lethal myopathy phenotype.
Sources: NHS GMS
Mendeliome v0.1435 POU3F4 Elena Savva reviewed gene: POU3F4: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31786483, 30176854; Phenotypes: Deafness, X-linked 2; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.1435 WDR81 Kristin Rigbye edited their review of gene: WDR81: Changed publications: 21885617, 28556411, 28969387
Mendeliome v0.1435 WDR81 Kristin Rigbye changed review comment from: A homozygous and compound heterozygous nonsense and missense variants reported. Variants shown to result in a loss of function (PMID: 28969387).; to: Homozygous and compound heterozygous nonsense and missense variants reported. Variants shown to result in a loss of function (PMID: 28969387).
Mendeliome v0.1435 WDR81 Kristin Rigbye changed review comment from: A few homozygous families reported to date. Variants are expected to results in a loss of function, although functional studies have not been performed.; to: A homozygous and compound heterozygous nonsense and missense variants reported. Variants shown to result in a loss of function (PMID: 28969387).
Mendeliome v0.1435 WDR81 Kristin Rigbye reviewed gene: WDR81: Rating: GREEN; Mode of pathogenicity: None; Publications: 21885617, 28556411; Phenotypes: Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2, 610185, Hydrocephalus, congenital, 3, with brain anomalies, 617967; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1435 TBCE Zornitza Stark Marked gene: TBCE as ready
Mendeliome v0.1435 TBCE Zornitza Stark Gene: tbce has been classified as Green List (High Evidence).
Mendeliome v0.1435 TBCE Zornitza Stark Phenotypes for gene: TBCE were changed from to Encephalopathy, progressive, with amyotrophy and optic atrophy; Hypoparathyroidism-retardation-dysmorphism syndrome; Kenny-Caffey syndrome, type 1
Mendeliome v0.1434 TBCE Zornitza Stark Publications for gene: TBCE were set to
Mendeliome v0.1433 TBCE Zornitza Stark Mode of inheritance for gene: TBCE was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1432 HTRA1 Zornitza Stark Marked gene: HTRA1 as ready
Mendeliome v0.1432 HTRA1 Zornitza Stark Gene: htra1 has been classified as Green List (High Evidence).
Mendeliome v0.1432 HTRA1 Zornitza Stark Phenotypes for gene: HTRA1 were changed from to {Macular degeneration, age-related, 7}, 6101493; {Macular degeneration, age-related, neovascular type}, 610149; CARASIL syndrome, 600142; Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2, 616779
Mendeliome v0.1431 HTRA1 Zornitza Stark Publications for gene: HTRA1 were set to
Mendeliome v0.1430 HTRA1 Zornitza Stark Mode of pathogenicity for gene: HTRA1 was changed from to Other
Mendeliome v0.1429 HTRA1 Zornitza Stark Mode of inheritance for gene: HTRA1 was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mendeliome v0.1428 PLPBP Zornitza Stark Gene: plpbp has been classified as Green List (High Evidence).
Mendeliome v0.1428 PLPBP Zornitza Stark Phenotypes for gene: PLPBP were changed from to Epilepsy, early-onset, vitamin B6-dependent, 617290
Mendeliome v0.1427 PLPBP Zornitza Stark Publications for gene: PLPBP were set to
Mendeliome v0.1426 PLPBP Zornitza Stark Mode of inheritance for gene: PLPBP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1425 PTPN11 Zornitza Stark Marked gene: PTPN11 as ready
Mendeliome v0.1425 PTPN11 Zornitza Stark Gene: ptpn11 has been classified as Green List (High Evidence).
Mendeliome v0.1425 PTPN11 Zornitza Stark Phenotypes for gene: PTPN11 were changed from to LEOPARD syndrome 1 (MIM#151100); Noonan syndrome 1 (MIM#163950); Metachondromatosis (MIM#156250)
Mendeliome v0.1424 PTPN11 Zornitza Stark Publications for gene: PTPN11 were set to
Mendeliome v0.1423 PTPN11 Zornitza Stark Mode of pathogenicity for gene: PTPN11 was changed from to Other
Mendeliome v0.1422 PTPN11 Zornitza Stark Mode of inheritance for gene: PTPN11 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.1421 SYNE1 Zornitza Stark Gene: syne1 has been classified as Green List (High Evidence).
Mendeliome v0.1421 SYNE1 Zornitza Stark Phenotypes for gene: SYNE1 were changed from to Arthrogryposis multiplex congenita, myogenic type, MIM# 618484; Emery-Dreifuss muscular dystrophy 4, autosomal dominant, MIM# 612998; Spinocerebellar ataxia, autosomal recessive 8, MIM# 610743
Mendeliome v0.1420 SYNE1 Zornitza Stark Publications for gene: SYNE1 were set to
Mendeliome v0.1419 SYNE1 Zornitza Stark Mode of inheritance for gene: SYNE1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.1418 SYNE1 Zornitza Stark edited their review of gene: SYNE1: Added comment: Well established gene-disease association with Emery-Dreifuss muscular dystrophy (AD), and with recessive ataxia.
Distal arthrogryposis: three families reported with bi-allelic distal truncating variants in the KASH domain. This appears to be a specific genotype-phenotype correlation.; Changed rating: GREEN; Changed publications: 23352163, 27782104; Changed phenotypes: Arthrogryposis multiplex congenita, myogenic type, MIM# 618484, Emery-Dreifuss muscular dystrophy 4, autosomal dominant, MIM# 612998, Spinocerebellar ataxia, autosomal recessive 8, MIM# 610743; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.1418 PNPT1 Zornitza Stark Marked gene: PNPT1 as ready
Mendeliome v0.1418 PNPT1 Zornitza Stark Added comment: Comment when marking as ready: Those initially presenting with deafness may be at risk of progressive complex neurological course.
Mendeliome v0.1418 PNPT1 Zornitza Stark Gene: pnpt1 has been classified as Green List (High Evidence).
Mendeliome v0.1418 PNPT1 Zornitza Stark Marked gene: PNPT1 as ready
Mendeliome v0.1418 PNPT1 Zornitza Stark Gene: pnpt1 has been classified as Green List (High Evidence).
Mendeliome v0.1418 PNPT1 Zornitza Stark Phenotypes for gene: PNPT1 were changed from to Combined oxidative phosphorylation deficiency 13 (MIM#614932); Deafness, autosomal recessive 70 (MIM#614934)
Mendeliome v0.1417 PNPT1 Zornitza Stark Publications for gene: PNPT1 were set to
Mendeliome v0.1416 PNPT1 Zornitza Stark Mode of inheritance for gene: PNPT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1415 TBCE Elena Savva reviewed gene: TBCE: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 27666369; Phenotypes: Encephalopathy, progressive, with amyotrophy and optic atrophy, Hypoparathyroidism-retardation-dysmorphism syndrome, Kenny-Caffey syndrome, type 1; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1415 HTRA1 Elena Savva reviewed gene: HTRA1: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 29895533, 19387015; Phenotypes: {Macular degeneration, age-related, 7}, 6101493, {Macular degeneration, age-related, neovascular type}, 610149, CARASIL syndrome, 600142, Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2, 616779; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mendeliome v0.1415 PLPBP Elena Savva reviewed gene: PLPBP: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 29689137, 27912044; Phenotypes: Epilepsy, early-onset, vitamin B6-dependent, 617290; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.1415 PTPN11 Crystle Lee reviewed gene: PTPN11: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 24935154, 11704759, 21533187; Phenotypes: LEOPARD syndrome 1 (MIM#151100), Noonan syndrome 1 (MIM#163950), Metachondromatosis (MIM#156250); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.1415 SYNE1 Crystle Lee reviewed gene: SYNE1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30573412; Phenotypes: Spinocerebellar ataxia, autosomal recessive 8 (MIM#610743); Mode of inheritance: None
Mendeliome v0.1415 PNPT1 Crystle Lee reviewed gene: PNPT1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID:31752325, PMID: 30244537, PMID: 28594066, PMID: 28645153; Phenotypes: Combined oxidative phosphorylation deficiency 13 (MIM#614932), Deafness, autosomal recessive 70 (MIM#614934); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1415 MPP3 Zornitza Stark Gene: mpp3 has been classified as Red List (Low Evidence).
Mendeliome v0.1415 MPP3 Zornitza Stark Classified gene: MPP3 as Red List (low evidence)
Mendeliome v0.1415 MPP3 Zornitza Stark Gene: mpp3 has been classified as Red List (Low Evidence).
Mendeliome v0.1414 MPP3 Zornitza Stark reviewed gene: MPP3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.1414 GLRX Zornitza Stark Gene: glrx has been classified as Red List (Low Evidence).
Mendeliome v0.1414 GLRX Zornitza Stark Classified gene: GLRX as Red List (low evidence)
Mendeliome v0.1414 GLRX Zornitza Stark Gene: glrx has been classified as Red List (Low Evidence).
Mendeliome v0.1413 GLRX Zornitza Stark reviewed gene: GLRX: Rating: RED; Mode of pathogenicity: None; Publications: 27958883; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.1413 GC Zornitza Stark Gene: gc has been classified as Red List (Low Evidence).
Mendeliome v0.1413 GC Zornitza Stark Classified gene: GC as Red List (low evidence)
Mendeliome v0.1413 GC Zornitza Stark Gene: gc has been classified as Red List (Low Evidence).
Mendeliome v0.1412 GC Natalie Tan reviewed gene: GC: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.1412 AANAT Zornitza Stark Marked gene: AANAT as ready
Mendeliome v0.1412 AANAT Zornitza Stark Gene: aanat has been classified as Red List (Low Evidence).
Mendeliome v0.1412 AANAT Zornitza Stark Phenotypes for gene: AANAT were changed from to Delayed sleep phase, susceptibility to
Mendeliome v0.1411 AANAT Zornitza Stark Publications for gene: AANAT were set to
Mendeliome v0.1410 AANAT Zornitza Stark Mode of inheritance for gene: AANAT was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.1409 AANAT Zornitza Stark Classified gene: AANAT as Red List (low evidence)
Mendeliome v0.1409 AANAT Zornitza Stark Gene: aanat has been classified as Red List (Low Evidence).
Mendeliome v0.1408 AANAT Zornitza Stark reviewed gene: AANAT: Rating: RED; Mode of pathogenicity: None; Publications: 12736803; Phenotypes: Delayed sleep phase, susceptibility to; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.1408 DUX4 Zornitza Stark Tag SV/CNV tag was added to gene: DUX4.
Mendeliome v0.1408 DUX4 Zornitza Stark Gene: dux4 has been classified as Red List (Low Evidence).
Mendeliome v0.1408 DUX4 Zornitza Stark Phenotypes for gene: DUX4 were changed from to Fascioscapulohumeral muscular dystrophy, MIM#158900
Mendeliome v0.1407 DUX4 Zornitza Stark Mode of inheritance for gene: DUX4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.1406 DUX4 Zornitza Stark Classified gene: DUX4 as Red List (low evidence)
Mendeliome v0.1406 DUX4 Zornitza Stark Gene: dux4 has been classified as Red List (Low Evidence).
Mendeliome v0.1405 DUX4 Zornitza Stark reviewed gene: DUX4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Fascioscapulohumeral muscular dystrophy, MIM#158900; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.1405 SLC6A4 Zornitza Stark Gene: slc6a4 has been classified as Red List (Low Evidence).
Mendeliome v0.1405 SLC6A4 Zornitza Stark Phenotypes for gene: SLC6A4 were changed from to {Obsessive-compulsive disorder}, MIM# 164230; depression; alcohol dependence
Mendeliome v0.1404 SLC6A4 Zornitza Stark Publications for gene: SLC6A4 were set to
Mendeliome v0.1403 SLC6A4 Zornitza Stark Mode of inheritance for gene: SLC6A4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.1402 SLC6A4 Zornitza Stark Classified gene: SLC6A4 as Red List (low evidence)
Mendeliome v0.1402 SLC6A4 Zornitza Stark Gene: slc6a4 has been classified as Red List (Low Evidence).
Mendeliome v0.1401 SLC6A4 Zornitza Stark reviewed gene: SLC6A4: Rating: RED; Mode of pathogenicity: None; Publications: 31629822; Phenotypes: {Obsessive-compulsive disorder}, MIM# 164230, depression, alcohol dependence; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.1401 TREX1 Zornitza Stark Marked gene: TREX1 as ready
Mendeliome v0.1401 TREX1 Zornitza Stark Gene: trex1 has been classified as Green List (High Evidence).
Mendeliome v0.1401 TREX1 Zornitza Stark Phenotypes for gene: TREX1 were changed from to Aicardi-Goutieres syndrome 1, dominant and recessive; Chilblain lupus; {Systemic lupus erythematosus, susceptibility to}; Vasculopathy, retinal, with cerebral leukodystrophy
Mendeliome v0.1400 TREX1 Zornitza Stark Publications for gene: TREX1 were set to
Mendeliome v0.1399 TREX1 Zornitza Stark Mode of pathogenicity for gene: TREX1 was changed from to Other
Mendeliome v0.1398 HGSNAT Zornitza Stark Marked gene: HGSNAT as ready
Mendeliome v0.1398 HGSNAT Zornitza Stark Gene: hgsnat has been classified as Green List (High Evidence).
Mendeliome v0.1398 HGSNAT Zornitza Stark Phenotypes for gene: HGSNAT were changed from to Mucopolysaccharidosis type IIIC (Sanfilippo C) (MIM #252930); Retinitis pigmentosa 73 (MIM # 616544)
Mendeliome v0.1397 HGSNAT Zornitza Stark Publications for gene: HGSNAT were set to
Mendeliome v0.1396 HGSNAT Zornitza Stark Mode of inheritance for gene: HGSNAT was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1395 PNKP Zornitza Stark Gene: pnkp has been classified as Green List (High Evidence).
Mendeliome v0.1395 PNKP Zornitza Stark Phenotypes for gene: PNKP were changed from to Ataxia-oculomotor apraxia 4, MIM#616267; Microcephaly, seizures, and developmental delay, MIM#613402
Mendeliome v0.1394 PNKP Zornitza Stark Publications for gene: PNKP were set to
Mendeliome v0.1393 PNKP Zornitza Stark Mode of inheritance for gene: PNKP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1392 DNAH5 Zornitza Stark Gene: dnah5 has been classified as Green List (High Evidence).
Mendeliome v0.1392 DNAH5 Zornitza Stark Phenotypes for gene: DNAH5 were changed from to Ciliary dyskinesia, primary, 3, with or without situs inversus (MIM #608644)
Mendeliome v0.1391 DNAH5 Zornitza Stark Publications for gene: DNAH5 were set to
Mendeliome v0.1390 DNAH5 Zornitza Stark Mode of inheritance for gene: DNAH5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1389 CDH23 Zornitza Stark Gene: cdh23 has been classified as Green List (High Evidence).
Mendeliome v0.1389 CDH23 Zornitza Stark Phenotypes for gene: CDH23 were changed from to Usher syndrome, type 1D (MIM# 601067); Deafness, autosomal recessive 12 (MIM # 601386) Usher syndrome, type 1D/F digenic (MIM #601067)
Mendeliome v0.1388 CDH23 Zornitza Stark Publications for gene: CDH23 were set to
Mendeliome v0.1387 CDH23 Zornitza Stark Mode of inheritance for gene: CDH23 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1386 TREX1 Kristin Rigbye reviewed gene: TREX1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 21937424; Phenotypes: Aicardi-Goutieres syndrome 1, dominant and recessive, Chilblain lupus, {Systemic lupus erythematosus, susceptibility to}, Vasculopathy, retinal, with cerebral leukodystrophy; Mode of inheritance: None; Current diagnostic: yes
Mendeliome v0.1386 HGSNAT Ain Roesley reviewed gene: HGSNAT: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 19479962, 31228227, 20825431, 20583299; Phenotypes: Mucopolysaccharidosis type IIIC (Sanfilippo C) (MIM #252930), Retinitis pigmentosa 73 (MIM # 616544); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1386 PNKP Kristin Rigbye reviewed gene: PNKP: Rating: GREEN; Mode of pathogenicity: None; Publications: 31436889, 31707899; Phenotypes: Ataxia-oculomotor apraxia 4, Microcephaly, seizures, and developmental delay; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.1386 DNAH5 Ain Roesley reviewed gene: DNAH5: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 16627867; Phenotypes: Ciliary dyskinesia, primary, 3, with or without situs inversus (MIM #608644); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1386 CDH23 Ain Roesley reviewed gene: CDH23: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 11138009, 25468891, 21940737; Phenotypes: Usher syndrome, type 1D (MIM# 601067), Deafness, autosomal recessive 12 (MIM # 601386) Usher syndrome, type 1D/F digenic (MIM #601067); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1386 SHROOM4 Zornitza Stark Gene: shroom4 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1386 SHROOM4 Zornitza Stark Phenotypes for gene: SHROOM4 were changed from to Stocco dos Santos X-linked mental retardation syndrome, 300434; Intellectual disability
Mendeliome v0.1385 SHROOM4 Zornitza Stark Publications for gene: SHROOM4 were set to
Mendeliome v0.1384 SHROOM4 Zornitza Stark Mode of inheritance for gene: SHROOM4 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.1383 SHROOM4 Zornitza Stark Classified gene: SHROOM4 as Amber List (moderate evidence)
Mendeliome v0.1383 SHROOM4 Zornitza Stark Gene: shroom4 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1382 SHROOM4 Zornitza Stark reviewed gene: SHROOM4: Rating: AMBER; Mode of pathogenicity: None; Publications: 16249884, 26740508; Phenotypes: Stocco dos Santos X-linked mental retardation syndrome, 300434, Intellectual disability; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.1382 F2 Zornitza Stark Gene: f2 has been classified as Green List (High Evidence).
Mendeliome v0.1382 F2 Zornitza Stark Phenotypes for gene: F2 were changed from to {Pregnancy loss, recurrent, susceptibility to, 2} 614390 AD; {Stroke, ischemic, susceptibility to} 601367 Mu; Dysprothrombinemia 613679 AR; Hypoprothrombinemia 613679 AR; Thrombophilia due to thrombin defect 188050 AD
Mendeliome v0.1381 F2 Zornitza Stark Publications for gene: F2 were set to
Mendeliome v0.1380 F2 Zornitza Stark Mode of inheritance for gene: F2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.1379 F2 Zornitza Stark Tag 5'UTR tag was added to gene: F2.
Mendeliome v0.1379 F2 Zornitza Stark reviewed gene: F2: Rating: GREEN; Mode of pathogenicity: None; Publications: 30297698; Phenotypes: {Pregnancy loss, recurrent, susceptibility to, 2} 614390 AD, {Stroke, ischemic, susceptibility to} 601367 Mu, Dysprothrombinemia 613679 AR, Hypoprothrombinemia 613679 AR, Thrombophilia due to thrombin defect 188050 AD; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.1379 CHD2 Zornitza Stark Gene: chd2 has been classified as Green List (High Evidence).
Mendeliome v0.1379 CHD2 Zornitza Stark Phenotypes for gene: CHD2 were changed from to Epileptic encephalopathy, childhood-onset (MIM # 615369)
Mendeliome v0.1378 CHD2 Zornitza Stark Mode of inheritance for gene: CHD2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.1377 INTS1 Zornitza Stark Marked gene: INTS1 as ready
Mendeliome v0.1377 INTS1 Zornitza Stark Gene: ints1 has been classified as Green List (High Evidence).
Mendeliome v0.1377 INTS1 Zornitza Stark Phenotypes for gene: INTS1 were changed from to Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies, MIM# 618571
Mendeliome v0.1376 INTS1 Zornitza Stark Publications for gene: INTS1 were set to
Mendeliome v0.1375 INTS1 Zornitza Stark Mode of inheritance for gene: INTS1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1374 INTS1 Zornitza Stark reviewed gene: INTS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28542170, 30622326, 31428919; Phenotypes: Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies, MIM# 618571; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1374 UGT1A4 Zornitza Stark Marked gene: UGT1A4 as ready
Mendeliome v0.1374 UGT1A4 Zornitza Stark Added comment: Comment when marking as ready: Agree, no evidence currently for Mendelian gene-disease association.
Mendeliome v0.1374 UGT1A4 Zornitza Stark Gene: ugt1a4 has been classified as Red List (Low Evidence).
Mendeliome v0.1374 UGT1A4 Zornitza Stark Classified gene: UGT1A4 as Red List (low evidence)
Mendeliome v0.1374 UGT1A4 Zornitza Stark Gene: ugt1a4 has been classified as Red List (Low Evidence).
Mendeliome v0.1373 CHD2 Teresa Zhao reviewed gene: CHD2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Epileptic encephalopathy, childhood-onset (MIM # 615369); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Mendeliome v0.1373 UGT1A4 Belinda Chong reviewed gene: UGT1A4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.1373 SOX3 Zornitza Stark Phenotypes for gene: SOX3 were changed from Mental retardation, X-linked, with isolated growth hormone deficiency, MIM#300123; Panhypopituitarism, X-linked, MIM#312000 to Mental retardation, X-linked, with isolated growth hormone deficiency, MIM#300123; Panhypopituitarism, X-linked, MIM#312000; XX male sex reversal
Mendeliome v0.1372 SOX3 Zornitza Stark edited their review of gene: SOX3: Changed phenotypes: Mental retardation, X-linked, with isolated growth hormone deficiency, MIM#300123, Panhypopituitarism, X-linked, MIM#312000, XX male sex reversal
Mendeliome v0.1372 SOX3 Zornitza Stark Gene: sox3 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1372 SOX3 Zornitza Stark Phenotypes for gene: SOX3 were changed from to Mental retardation, X-linked, with isolated growth hormone deficiency, MIM#300123; Panhypopituitarism, X-linked, MIM#312000
Mendeliome v0.1371 SOX3 Zornitza Stark Publications for gene: SOX3 were set to
Mendeliome v0.1370 SOX3 Zornitza Stark Mode of inheritance for gene: SOX3 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.1369 SOX3 Zornitza Stark Classified gene: SOX3 as Amber List (moderate evidence)
Mendeliome v0.1369 SOX3 Zornitza Stark Gene: sox3 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1368 SOX3 Zornitza Stark Tag SV/CNV tag was added to gene: SOX3.
Mendeliome v0.1368 SOX3 Zornitza Stark reviewed gene: SOX3: Rating: AMBER; Mode of pathogenicity: None; Publications: 29175558, 30125608, 12428212, 15800844; Phenotypes: Mental retardation, X-linked, with isolated growth hormone deficiency, MIM#300123, Panhypopituitarism, X-linked, MIM#312000; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.1368 AKT1 Zornitza Stark Marked gene: AKT1 as ready
Mendeliome v0.1368 AKT1 Zornitza Stark Gene: akt1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1368 AKT1 Zornitza Stark Mode of inheritance for gene: AKT1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.1367 AKT1 Zornitza Stark Phenotypes for gene: AKT1 were changed from to Cowden syndrome 6, MIM#615109; Proteus syndrome, MIM#176920
Mendeliome v0.1366 AKT1 Zornitza Stark Tag somatic tag was added to gene: AKT1.
Mendeliome v0.1366 AKT1 Zornitza Stark Publications for gene: AKT1 were set to
Mendeliome v0.1365 AKT1 Zornitza Stark Mode of pathogenicity for gene: AKT1 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Mendeliome v0.1364 AKT1 Zornitza Stark Classified gene: AKT1 as Amber List (moderate evidence)
Mendeliome v0.1364 AKT1 Zornitza Stark Gene: akt1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1363 PEX6 Zornitza Stark Gene: pex6 has been classified as Green List (High Evidence).
Mendeliome v0.1363 PEX6 Zornitza Stark Phenotypes for gene: PEX6 were changed from to Heimler syndrome 2, MIM# 616617; Peroxisome biogenesis disorder 4A (Zellweger), MIM# 614862; Peroxisome biogenesis disorder 4B, MIM# 614863
Mendeliome v0.1362 PEX6 Zornitza Stark Mode of inheritance for gene: PEX6 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.1361 PUF60 Zornitza Stark Gene: puf60 has been classified as Green List (High Evidence).
Mendeliome v0.1361 PUF60 Zornitza Stark Phenotypes for gene: PUF60 were changed from to Verheij syndrome, MIM# 615583
Mendeliome v0.1360 PUF60 Zornitza Stark Mode of inheritance for gene: PUF60 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.1359 ATRX Zornitza Stark Marked gene: ATRX as ready
Mendeliome v0.1359 ATRX Zornitza Stark Gene: atrx has been classified as Green List (High Evidence).
Mendeliome v0.1359 ATRX Zornitza Stark Phenotypes for gene: ATRX were changed from to Alpha-thalassemia/mental retardation syndrome; Mental retardation-hypotonic facies syndrome, X-linked
Mendeliome v0.1358 ATRX Zornitza Stark Mode of inheritance for gene: ATRX was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Mendeliome v0.1357 AKT1 Elena Savva reviewed gene: AKT1: Rating: AMBER; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: PMID: 23246288; Phenotypes: Cowden syndrome 6, Proteus syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mendeliome v0.1357 PEX6 Elena Savva reviewed gene: PEX6: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 29220678; Phenotypes: Peroxisome biogenesis disorder 4B, Heimler syndrome 2, Peroxisome biogenesis disorder 4A (Zellweger); Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.1357 PUF60 Elena Savva reviewed gene: PUF60: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Verheij syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.1357 KMT2E Elena Savva reviewed gene: KMT2E: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31079897; Phenotypes: O'Donnell-Luria-Rodan syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.1357 ATRX Elena Savva reviewed gene: ATRX: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Alpha-thalassemia myelodysplasia syndrome, somatic, Alpha-thalassemia/mental retardation syndrome, Mental retardation-hypotonic facies syndrome, X-linked; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Mendeliome v0.1357 PTRHD1 Zornitza Stark Marked gene: PTRHD1 as ready
Mendeliome v0.1357 PTRHD1 Zornitza Stark Gene: ptrhd1 has been classified as Green List (High Evidence).
Mendeliome v0.1357 PTRHD1 Zornitza Stark Classified gene: PTRHD1 as Green List (high evidence)
Mendeliome v0.1357 PTRHD1 Zornitza Stark Gene: ptrhd1 has been classified as Green List (High Evidence).
Mendeliome v0.1356 PTRHD1 Zornitza Stark gene: PTRHD1 was added
gene: PTRHD1 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: PTRHD1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PTRHD1 were set to 30398675; 27134041; 27753167; 29143421
Phenotypes for gene: PTRHD1 were set to Parkinsonism; Intellectual disability
Review for gene: PTRHD1 was set to GREEN
Added comment: Three unrelated families reported: two with homozygous missense variants; and one with truncating variant. Affected individuals have juvenile-onset parkinsonism and ID.
Sources: Expert list
Mendeliome v0.1355 GFER Zornitza Stark Gene: gfer has been classified as Green List (High Evidence).
Mendeliome v0.1355 GFER Zornitza Stark Phenotypes for gene: GFER were changed from to Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay (MIM #613076)
Mendeliome v0.1354 GFER Zornitza Stark Publications for gene: GFER were set to
Mendeliome v0.1353 GFER Zornitza Stark Mode of inheritance for gene: GFER was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1352 KRT14 Zornitza Stark Marked gene: KRT14 as ready
Mendeliome v0.1352 KRT14 Zornitza Stark Gene: krt14 has been classified as Green List (High Evidence).
Mendeliome v0.1352 KRT14 Zornitza Stark Phenotypes for gene: KRT14 were changed from to Epidermolysis bullosa simplex, recessive 1, 601001; Dermatopathia pigmentosa reticularis, 125595; Epidermolysis bullosa simplex, Dowling-Meara type, 131760; Epidermolysis bullosa simplex, Koebner type, 131900; Epidermolysis bullosa simplex, Weber-Cockayne type, 131800; Naegeli-Franceschetti-Jadassohn syndrome, 161000
Mendeliome v0.1351 KRT14 Zornitza Stark Publications for gene: KRT14 were set to
Mendeliome v0.1350 KRT14 Zornitza Stark Mode of pathogenicity for gene: KRT14 was changed from to Other
Mendeliome v0.1349 KRT14 Zornitza Stark Mode of inheritance for gene: KRT14 was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mendeliome v0.1348 KRT14 Zornitza Stark reviewed gene: KRT14: Rating: GREEN; Mode of pathogenicity: None; Publications: 16960809, 18049449; Phenotypes: Epidermolysis bullosa simplex, recessive 1, 601001, Dermatopathia pigmentosa reticularis, 125595, Epidermolysis bullosa simplex, Dowling-Meara type, 131760, Epidermolysis bullosa simplex, Koebner type, 131900, Epidermolysis bullosa simplex, Weber-Cockayne type, 131800, Naegeli-Franceschetti-Jadassohn syndrome, 161000; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mendeliome v0.1348 GFER Ain Roesley reviewed gene: GFER: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 28155230; Phenotypes: Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay (MIM #613076); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.1348 PLEKHG2 Zornitza Stark Classified gene: PLEKHG2 as Amber List (moderate evidence)
Mendeliome v0.1348 PLEKHG2 Zornitza Stark Gene: plekhg2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.1347 PLEKHG2 Zornitza Stark edited their review of gene: PLEKHG2: Added comment: Further family identified, promote to Amber.; Changed rating: AMBER; Changed publications: 26539891, 24001768, 26573021; Changed phenotypes: Leukodystrophy and acquired microcephaly with or without dystonia, MIM# 616763
Mendeliome v0.1347 PITRM1 Zornitza Stark Marked gene: PITRM1 as ready
Mendeliome v0.1347 PITRM1 Zornitza Stark Gene: pitrm1 has been classified as Green List (High Evidence).
Mendeliome v0.1347 PITRM1 Zornitza Stark Classified gene: PITRM1 as Green List (high evidence)
Mendeliome v0.1347 PITRM1 Zornitza Stark Gene: pitrm1 has been classified as Green List (High Evidence).
Mendeliome v0.1346 PITRM1 Zornitza Stark gene: PITRM1 was added
gene: PITRM1 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: PITRM1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PITRM1 were set to 26697887; 29764912; 29383861
Phenotypes for gene: PITRM1 were set to Ataxia; Intellectual disability
Review for gene: PITRM1 was set to GREEN
gene: PITRM1 was marked as current diagnostic
Added comment: Three unrelated families reported with bi-allelic variants in this gene.
Sources: Expert list
Mendeliome v0.1345 CSGALNACT1 Tiong Tan Marked gene: CSGALNACT1 as ready
Mendeliome v0.1345 CSGALNACT1 Tiong Tan Gene: csgalnact1 has been classified as Green List (High Evidence).
Mendeliome v0.1345 CSGALNACT1 Tiong Tan Classified gene: CSGALNACT1 as Green List (high evidence)
Mendeliome v0.1345 CSGALNACT1 Tiong Tan Gene: csgalnact1 has been classified as Green List (High Evidence).
Mendeliome v0.1344 CSGALNACT1 Tiong Tan gene: CSGALNACT1 was added
gene: CSGALNACT1 was added to Mendeliome. Sources: Expert Review,Literature
Mode of inheritance for gene: CSGALNACT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CSGALNACT1 were set to Congenital disorders of glycosylation; skeletal dysplasia; advanced bone age
Review for gene: CSGALNACT1 was set to GREEN
Added comment: Two unrelated families and functional studies
Sources: Expert Review, Literature
Mendeliome v0.1343 UNC13A Zornitza Stark Gene: unc13a has been classified as Red List (Low Evidence).
Mendeliome v0.1343 UNC13A Zornitza Stark Phenotypes for gene: UNC13A were changed from to Congenital myasthenia; dyskinesia; autism; developmental delay
Mendeliome v0.1342 UNC13A Zornitza Stark Publications for gene: UNC13A were set to
Mendeliome v0.1341 UNC13A Zornitza Stark Mode of inheritance for gene: UNC13A was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.1340 UNC13A Zornitza Stark Classified gene: UNC13A as Red List (low evidence)
Mendeliome v0.1340 UNC13A Zornitza Stark Gene: unc13a has been classified as Red List (Low Evidence).
Mendeliome v0.1339 UNC13A Zornitza Stark reviewed gene: UNC13A: Rating: RED; Mode of pathogenicity: None; Publications: 27648472, 28192369; Phenotypes: Congenital myasthenia, dyskinesia, autism, developmental delay; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.1339 TOR1AIP1 Bryony Thompson Classified gene: TOR1AIP1 as Green List (high evidence)
Mendeliome v0.1339 TOR1AIP1 Bryony Thompson Added comment: Comment on list classification: Phenotype appears to be variable depending on which isoform is affected by the variants.
Mendeliome v0.1339 TOR1AIP1 Bryony Thompson Gene: tor1aip1 has been classified as Green List (High Evidence).
Mendeliome v0.1338 TOR1AIP1 Bryony Thompson gene: TOR1AIP1 was added
gene: TOR1AIP1 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: TOR1AIP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TOR1AIP1 were set to 24856141; 31299614; 30723199; 27342937
Phenotypes for gene: TOR1AIP1 were set to Muscular dystrophy, autosomal recessive, with rigid spine and distal joint contractures MIM#617072
Review for gene: TOR1AIP1 was set to GREEN
Added comment: At least 5 families/cases reported with muscular dystrophy and sometimes cardiomyopathy.
Sources: Expert list
Mendeliome v0.1337 PPP1R12A Zornitza Stark edited their review of gene: PPP1R12A: Changed rating: GREEN; Changed publications: 31883643
Mendeliome v0.1337 BCKDHB Melanie Marty reviewed gene: BCKDHB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Maple syrup urine disease, type Ib 248600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.1337 EML1 Zornitza Stark Gene: eml1 has been classified as Green List (High Evidence).
Mendeliome v0.1337 EML1 Zornitza Stark Phenotypes for gene: EML1 were changed from to Band heterotopia (MIM# 600348)