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Mendeliome v1.1813 SLC6A1 Sangavi Sivagnanasundram reviewed gene: SLC6A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 38781976; Phenotypes: myoclonic-atonic epilepsy MONDO:0014633; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v1.1767 SLC6A20 Bryony Thompson Publications for gene: SLC6A20 were set to 24816252; 19033659
Mendeliome v1.1766 SLC6A20 Bryony Thompson Classified gene: SLC6A20 as Red List (low evidence)
Mendeliome v1.1766 SLC6A20 Bryony Thompson Gene: slc6a20 has been classified as Red List (Low Evidence).
Mendeliome v1.1765 SLC6A20 Bryony Thompson reviewed gene: SLC6A20: Rating: RED; Mode of pathogenicity: None; Publications: 19033659, 36820062, 24816252; Phenotypes: Hyperglycinuria MONDO:0007677; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v1.1734 PQLC2 Chirag Patel gene: PQLC2 was added
gene: PQLC2 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: PQLC2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PQLC2 were set to PMID: 35486108; and online publication GiM Feb 2024
Phenotypes for gene: PQLC2 were set to Retinitis pigmentosa, MONDO:0019200
Review for gene: PQLC2 was set to GREEN
gene: PQLC2 was marked as current diagnostic
Added comment: HGNC Gene Symbol: SLC66A1
Total 8 individuals from 6 families.

Millo et al. (2022)(PMID: 35486108) -
WES (with targeted analysis of SLC genes) in 913 cases from 785 families with inherited retinal dystrophy. They identified 2 different homozygous variants in SLC66A1 in 3 individuals from 2 families with adult-onset retinal dystrophy. No functional data.


Olinger et al. (2024)(https://www.sciencedirect.com/science/article/pii/S2949774424009804) -
CNV analysis of trio and non-trio WGS data from Genomics England 100K genomes project. They identified homozygous 21kb deletion spanning nearly entire SLC66A1 gene in 2 siblings with adult-onset rod-cone dystrophy (parents HTZ carriers). Review of cohort data then identified homozygous LOF variants (1 nonsense, 2 frameshift) in another 3 individuals with rod-cone dystrophy.
Sources: Literature
Mendeliome v1.1539 TNRC6A Elena Savva Marked gene: TNRC6A as ready
Mendeliome v1.1539 TNRC6A Elena Savva Gene: tnrc6a has been classified as Red List (Low Evidence).
Mendeliome v1.1539 TNRC6A Elena Savva gene: TNRC6A was added
gene: TNRC6A was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: TNRC6A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TNRC6A were set to PMID: 29507423; 33040085
Phenotypes for gene: TNRC6A were set to ?Epilepsy, familial adult myoclonic, 6 MIM#618074
Review for gene: TNRC6A was set to RED
Added comment: PMID: 29507423;33040085 - intronic expansion in a cohort with familial myoclonic epilepsy, also observed in controls but enriched in the affect cohort.

Gene was listed in the Oliver list
Sources: Literature
Mendeliome v1.1479 SEC61A1 Zornitza Stark Phenotypes for gene: SEC61A1 were changed from Hyperuricemic nephropathy, familial juvenile, 4, MIM# 617056; Hypogammaglobulinaemia; Neutropaenia to Hyperuricemic nephropathy, familial juvenile, 4, MIM# 617056; Immunodeficiency, common variable, 15, MIM# 620670; Neutropenia, severe congenital, 11, autosomal dominant, MIM# 620674
Mendeliome v1.1478 SEC61A1 Zornitza Stark Publications for gene: SEC61A1 were set to 27392076; 32325141; 28782633
Mendeliome v1.1477 SEC61A1 Zornitza Stark edited their review of gene: SEC61A1: Added comment: PMID 32325141: single individual with de novo missense and phenotype primarily characterised by severe neutropenia.; Changed publications: 27392076, 32325141, 28782633, 32325141
Mendeliome v1.1477 SEC61A1 Zornitza Stark edited their review of gene: SEC61A1: Changed phenotypes: Hyperuricemic nephropathy, familial juvenile, 4, MIM# 617056, Immunodeficiency, common variable, 15, MIM# 620670, Neutropenia, severe congenital, 11, autosomal dominant, MIM# 620674
Mendeliome v1.1477 SEC61A1 Zornitza Stark edited their review of gene: SEC61A1: Changed phenotypes: Hyperuricemic nephropathy, familial juvenile, 4, MIM# 617056, Immunodeficiency, common variable, 15, MIM# 620670
Mendeliome v1.1362 THOC6 Ling Sun changed review comment from: THOC6 homozygous or compound heterozygous variants are associated with Beaulieu-Boycott-Innes syndrome. Clinical spectrum is heterogenous, with major phenotype DD and ID (Note that this gene is already on the ID panel). Some are affected with structural cardiac anomalies, therefore not all individuals with BBIS have cardiac anomalies (hence, not a major phenotype).

PMID 35426486: Two siblings with maternally inherited c.[298T>A;700G>T;824G>A], p.[(Trp100Arg);(Val234Leu);(Gly275Asp)] and paternally inherited c.977T>G, p.(Val326Gly) [compound het]

PMID: 30476144: A boy with mat UPD homozygous c.(298T>A; 700G>C; 824G>C)
A girl with maternally inherited c.(298T>A, 700G>C, 824G>A) and paternally inherited c.569G>A, p.(Gly190Glu) [compount het]

PMID: 32282736: A boy with paternally inherited c.664T>C (p.Trp222Arg) and maternally inherited c.945+1 G>A [compound het]; to: THOC6 homozygous or compound heterozygous variants are associated with Beaulieu-Boycott-Innes syndrome. Clinical spectrum is heterogenous, with major phenotype DD and ID (Note that this gene is already on the ID panel). Some are affected with structural cardiac anomalies, therefore not all individuals with BBIS have cardiac anomalies (hence, not a major phenotype, eg. see https://databases.lovd.nl/shared/diseases/03390).

PMID 35426486: Two siblings with maternally inherited c.[298T>A;700G>T;824G>A], p.[(Trp100Arg);(Val234Leu);(Gly275Asp)] and paternally inherited c.977T>G, p.(Val326Gly) [compound het]

PMID: 30476144: A boy with mat UPD homozygous c.(298T>A; 700G>C; 824G>C)
A girl with maternally inherited c.(298T>A, 700G>C, 824G>A) and paternally inherited c.569G>A, p.(Gly190Glu) [compount het]

PMID: 32282736: A boy with paternally inherited c.664T>C (p.Trp222Arg) and maternally inherited c.945+1 G>A [compound het]
Mendeliome v1.1362 THOC6 Ling Sun changed review comment from: THOC6 homozygous or compound heterozygous variants are associated with Beaulieu-Boycott-Innes syndrome. Clinical spectrum is heterogenous, with major phenotype DD and ID (Note that this gene is already on the ID panel). Some are affected with structural cardiac anomalies, therefore not all individuals with BBIS have cardiac anomalies (hence, not a major phenotype).

PMID 35426486: Two siblings with maternally inherited c.[298T>A;700G>T;824G>A], p.[(Trp100Arg);(Val234Leu);(Gly275Asp)] and paternally inherited c.977T>G, p.(Val326Gly)

PMID: 30476144: A boy with mat UPD homozygous c.(298T>A; 700G>C; 824G>C)
A girl with maternally inherited c.(298T>A, 700G>C, 824G>A) and paternally inherited c.569G>A, p.(Gly190Glu); to: THOC6 homozygous or compound heterozygous variants are associated with Beaulieu-Boycott-Innes syndrome. Clinical spectrum is heterogenous, with major phenotype DD and ID (Note that this gene is already on the ID panel). Some are affected with structural cardiac anomalies, therefore not all individuals with BBIS have cardiac anomalies (hence, not a major phenotype).

PMID 35426486: Two siblings with maternally inherited c.[298T>A;700G>T;824G>A], p.[(Trp100Arg);(Val234Leu);(Gly275Asp)] and paternally inherited c.977T>G, p.(Val326Gly) [compound het]

PMID: 30476144: A boy with mat UPD homozygous c.(298T>A; 700G>C; 824G>C)
A girl with maternally inherited c.(298T>A, 700G>C, 824G>A) and paternally inherited c.569G>A, p.(Gly190Glu) [compount het]

PMID: 32282736: A boy with paternally inherited c.664T>C (p.Trp222Arg) and maternally inherited c.945+1 G>A [compound het]
Mendeliome v1.1362 THOC6 Ling Sun changed review comment from: THOC6 homozygous or compound heterozygous variants are associated with Beaulieu-Boycott-Innes syndrome. Clinical spectrum is heterogenous, with major phenotype DD and ID (Note that this gene is already on the ID panel). Some are affected with structural cardiac anomalies (syndromic phenotype).

PMID 35426486: Two siblings with maternally inherited c.[298T>A;700G>T;824G>A], p.[(Trp100Arg);(Val234Leu);(Gly275Asp)] and paternally inherited c.977T>G, p.(Val326Gly)

PMID: 30476144: A boy with mat UPD homozygous c.(298T>A; 700G>C; 824G>C)
A girl with maternally inherited c.(298T>A, 700G>C, 824G>A) and paternally inherited c.569G>A, p.(Gly190Glu); to: THOC6 homozygous or compound heterozygous variants are associated with Beaulieu-Boycott-Innes syndrome. Clinical spectrum is heterogenous, with major phenotype DD and ID (Note that this gene is already on the ID panel). Some are affected with structural cardiac anomalies, therefore not all individuals with BBIS have cardiac anomalies (hence, not a major phenotype).

PMID 35426486: Two siblings with maternally inherited c.[298T>A;700G>T;824G>A], p.[(Trp100Arg);(Val234Leu);(Gly275Asp)] and paternally inherited c.977T>G, p.(Val326Gly)

PMID: 30476144: A boy with mat UPD homozygous c.(298T>A; 700G>C; 824G>C)
A girl with maternally inherited c.(298T>A, 700G>C, 824G>A) and paternally inherited c.569G>A, p.(Gly190Glu)
Mendeliome v1.1362 THOC6 Ling Sun reviewed gene: THOC6: Rating: AMBER; Mode of pathogenicity: None; Publications: 35426486, 30476144; Phenotypes: VSD/ASD, severe aortic and left ventricular hypoplasia, Mild dilation of the right chambers and a mild myocardial hypertrophy secondary to a chronic hypertension, ventriculomegaly; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.1350 HIST1H4F Zornitza Stark Added comment: Comment when marking as ready: New gene name H4C6
Mendeliome v1.1350 CCDC66 Ain Roesley Phenotypes for gene: CCDC66 were changed from to myopia MONDO:0001384, CCDC66-related
Mendeliome v1.1349 CCDC66 Ain Roesley Classified gene: CCDC66 as Red List (low evidence)
Mendeliome v1.1349 CCDC66 Ain Roesley Gene: ccdc66 has been classified as Red List (Low Evidence).
Mendeliome v1.1348 CCDC66 Ain Roesley Marked gene: CCDC66 as ready
Mendeliome v1.1348 CCDC66 Ain Roesley Gene: ccdc66 has been removed from the panel.
Mendeliome v1.1340 CCDC66 Anna Ritchie gene: CCDC66 was added
gene: CCDC66 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: CCDC66 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CCDC66 were set to PMID: 37852749
Review for gene: CCDC66 was set to RED
Added comment: Nonsense variant (c.172C>T, p.Q58X) segregating in family with 5 affected members with high myopia (HM). Additionally, one family member with the variant displayed no symptoms, hinting at possible incomplete penetrance. Six other rare variants were identified in 200 sporadic high myopia patients that could potentially be linked to HM. A deficiency in CCDC66 might disrupt cell proliferation by influencing the mitotic process during retinal growth, leading to HM.
Sources: Literature
Mendeliome v1.630 TRU-TCA1-1 Paul De Fazio gene: TRU-TCA1-1 was added
gene: TRU-TCA1-1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: TRU-TCA1-1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TRU-TCA1-1 were set to 26854926; 34956927
Phenotypes for gene: TRU-TCA1-1 were set to Hyperthyroidism MONDO:0004425
Review for gene: TRU-TCA1-1 was set to AMBER
gene: TRU-TCA1-1 was marked as current diagnostic
Added comment: PMID 26854926: male 8 year old proband investigated for abdominal pain, fatigue, muscle weakness, and thyroid dysfunction (raised T4, normal T3, raised reverse T3) suggestive of impaired deiodinase activity in combination with low plasma selenium levels. Homozygosity mapping led to identification of a a single nucleotide change, C65G, in TRU-TCA1-1, a tRNA in the selenocysteine incorporation pathway. This mutation resulted in reduction in expression of stress-related selenoproteins. A methylribosylation defect at uridine 34 of mutant tRNA observed in patient cells was restored by cellular complementation with normal tRNA.

PMID 34956927: a 10 year old originally investigated for Hashimoto's disease was found to be homozygous for the same C65G variant identified in the previous paper, inherited from the father in what was concluded to be paternal isodisomy.
Sources: Literature
Mendeliome v1.402 C6 Zornitza Stark Tag treatable tag was added to gene: C6.
Mendeliome v1.389 EXOC6B Bryony Thompson Marked gene: EXOC6B as ready
Mendeliome v1.389 EXOC6B Bryony Thompson Gene: exoc6b has been classified as Green List (High Evidence).
Mendeliome v1.389 EXOC6B Bryony Thompson Classified gene: EXOC6B as Green List (high evidence)
Mendeliome v1.389 EXOC6B Bryony Thompson Gene: exoc6b has been classified as Green List (High Evidence).
Mendeliome v1.388 EXOC6B Bryony Thompson gene: EXOC6B was added
gene: EXOC6B was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: EXOC6B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EXOC6B were set to 26669664; 30284759; 36150098
Phenotypes for gene: EXOC6B were set to Spondyloepimetaphyseal dysplasia with joint laxity MONDO:0019675
Review for gene: EXOC6B was set to GREEN
Added comment: 6 affected individuals from 4 families, and supporting assays in patient cells
PMID: 26669664 - 2 brothers with spondyloepimetaphyseal dysplasia (SEMD), multiple joint dislocations at birth, severe joint laxity, scoliosis, gracile metacarpals and metatarsals, delayed bone age and poorly ossified carpal and tarsal bones from a consanguineous family, with a homozygous nonsense variant [c.906T>A/p.(Tyr302*)]
PMID: 30284759 - 2 sisters with dislocations of the hips and knees, long slender fingers with distal tapering, significant motor disability but normal (older sister) or low-normal intelligence (younger sister), with a homozygous in-frame deletion of exons 9-20
PMID: 36150098 - 2 unrelated probands from consanguineous families, one with a homozygous frameshift exon 20 deletion and one with a homozygous nonsense variant (c.401T>G p.Leu134Ter). Function assessment of patient fibroblast cell lines indicated abrogation of exocytosis leading to impaired primary ciliogenesis
Sources: Literature
Mendeliome v1.337 ABCC6 Zornitza Stark Phenotypes for gene: ABCC6 were changed from Pseudoxanthoma elasticum, MIM# 264800; Pseudoxanthoma elasticum, forme fruste, MIM#177850 to Arterial calcification, generalized, of infancy, 2, MIM# 614473; Pseudoxanthoma elasticum, MIM# 264800; Pseudoxanthoma elasticum, forme fruste, MIM#177850
Mendeliome v1.336 ABCC6 Zornitza Stark Publications for gene: ABCC6 were set to 11536079; 28102862
Mendeliome v1.335 ABCC6 Zornitza Stark Tag treatable tag was added to gene: ABCC6.
Mendeliome v1.335 ABCC6 Zornitza Stark edited their review of gene: ABCC6: Added comment: GACI is a treatable disorder.; Changed rating: GREEN; Changed publications: 33005041, 34355424; Changed phenotypes: Arterial calcification, generalized, of infancy, 2, MIM# 614473; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14791 DNAJC6 Zornitza Stark Marked gene: DNAJC6 as ready
Mendeliome v0.14791 DNAJC6 Zornitza Stark Gene: dnajc6 has been classified as Green List (High Evidence).
Mendeliome v0.14791 DNAJC6 Zornitza Stark Phenotypes for gene: DNAJC6 were changed from to Parkinson disease 19a, juvenile-onset - MIM#615528; Parkinson disease 19b, early-onset - MIM#615528
Mendeliome v0.14789 DNAJC6 Zornitza Stark Publications for gene: DNAJC6 were set to
Mendeliome v0.14787 DNAJC6 Zornitza Stark Mode of inheritance for gene: DNAJC6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14291 DNAJC6 Krithika Murali reviewed gene: DNAJC6: Rating: GREEN; Mode of pathogenicity: None; Publications: 22563501, 23211418, 26528954; Phenotypes: Parkinson disease 19a, juvenile-onset - MIM#615528, Parkinson disease 19b, early-onset - MIM#615528; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12818 TRPC6 Zornitza Stark Marked gene: TRPC6 as ready
Mendeliome v0.12818 TRPC6 Zornitza Stark Gene: trpc6 has been classified as Green List (High Evidence).
Mendeliome v0.12818 TRPC6 Zornitza Stark Phenotypes for gene: TRPC6 were changed from to Glomerulosclerosis, focal segmental, 2, MIM# 603965
Mendeliome v0.12817 TRPC6 Zornitza Stark Publications for gene: TRPC6 were set to
Mendeliome v0.12816 TRPC6 Zornitza Stark Mode of inheritance for gene: TRPC6 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12815 TRPC6 Zornitza Stark reviewed gene: TRPC6: Rating: GREEN; Mode of pathogenicity: None; Publications: 15879175, 15924139, 34387384, 33918778, 32509715; Phenotypes: Glomerulosclerosis, focal segmental, 2, MIM# 603965; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12483 TMC6 Zornitza Stark Marked gene: TMC6 as ready
Mendeliome v0.12483 TMC6 Zornitza Stark Gene: tmc6 has been classified as Green List (High Evidence).
Mendeliome v0.12483 TMC6 Zornitza Stark Phenotypes for gene: TMC6 were changed from to Epidermodysplasia verruciformis, MIM# 226400
Mendeliome v0.12482 TMC6 Zornitza Stark Publications for gene: TMC6 were set to
Mendeliome v0.12481 TMC6 Zornitza Stark Mode of inheritance for gene: TMC6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12480 TMC6 Zornitza Stark reviewed gene: TMC6: Rating: GREEN; Mode of pathogenicity: None; Publications: 12426567, 15042430]; Phenotypes: Epidermodysplasia verruciformis, MIM# 226400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12464 ERCC6 Zornitza Stark Marked gene: ERCC6 as ready
Mendeliome v0.12464 ERCC6 Zornitza Stark Gene: ercc6 has been classified as Green List (High Evidence).
Mendeliome v0.12464 ERCC6 Zornitza Stark Phenotypes for gene: ERCC6 were changed from to Cockayne syndrome, type B, MIM#133540; Cerebrooculofacioskeletal syndrome 1, MIM#214150; De Sanctis-Cacchione syndrome, MIM#278800
Mendeliome v0.12463 ERCC6 Zornitza Stark Publications for gene: ERCC6 were set to 20301516 20456449 9443879 8566949
Mendeliome v0.12462 ERCC6 Zornitza Stark Publications for gene: ERCC6 were set to
Mendeliome v0.12461 ERCC6 Zornitza Stark Mode of inheritance for gene: ERCC6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12379 SLC6A17 Zornitza Stark Marked gene: SLC6A17 as ready
Mendeliome v0.12379 SLC6A17 Zornitza Stark Gene: slc6a17 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.12377 SLC6A17 Zornitza Stark Phenotypes for gene: SLC6A17 were changed from to Mental retardation, autosomal recessive 48, MIM# 616269
Mendeliome v0.12376 SLC6A17 Zornitza Stark Publications for gene: SLC6A17 were set to
Mendeliome v0.12375 SLC6A17 Zornitza Stark Mode of inheritance for gene: SLC6A17 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12374 SLC6A17 Zornitza Stark Classified gene: SLC6A17 as Amber List (moderate evidence)
Mendeliome v0.12374 SLC6A17 Zornitza Stark Gene: slc6a17 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.12373 SLC6A17 Zornitza Stark reviewed gene: SLC6A17: Rating: AMBER; Mode of pathogenicity: None; Publications: 25704603, 23672601; Phenotypes: Mental retardation, autosomal recessive 48, MIM# 616269; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12373 SLC6A19 Zornitza Stark Marked gene: SLC6A19 as ready
Mendeliome v0.12373 SLC6A19 Zornitza Stark Gene: slc6a19 has been classified as Green List (High Evidence).
Mendeliome v0.12373 SLC6A19 Zornitza Stark Phenotypes for gene: SLC6A19 were changed from to Hartnup disorder, MIM# 234500; Hyperglycinuria, MIM# 138500; Iminoglycinuria, MIM# 242600
Mendeliome v0.12372 SLC6A19 Zornitza Stark Mode of inheritance for gene: SLC6A19 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.12276 SLC6A2 Zornitza Stark Marked gene: SLC6A2 as ready
Mendeliome v0.12276 SLC6A2 Zornitza Stark Gene: slc6a2 has been classified as Red List (Low Evidence).
Mendeliome v0.12276 SLC6A2 Zornitza Stark Phenotypes for gene: SLC6A2 were changed from to Orthostatic intolerance, MIM# 604715
Mendeliome v0.12275 SLC6A2 Zornitza Stark Publications for gene: SLC6A2 were set to
Mendeliome v0.12274 SLC6A2 Zornitza Stark Mode of inheritance for gene: SLC6A2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12273 SLC6A2 Zornitza Stark Classified gene: SLC6A2 as Red List (low evidence)
Mendeliome v0.12273 SLC6A2 Zornitza Stark Gene: slc6a2 has been classified as Red List (Low Evidence).
Mendeliome v0.12272 SLC6A2 Zornitza Stark reviewed gene: SLC6A2: Rating: RED; Mode of pathogenicity: None; Publications: 10684912; Phenotypes: Orthostatic intolerance, MIM# 604715; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11769 CCDC62 Zornitza Stark Marked gene: CCDC62 as ready
Mendeliome v0.11769 CCDC62 Zornitza Stark Gene: ccdc62 has been classified as Red List (Low Evidence).
Mendeliome v0.11769 CCDC62 Zornitza Stark gene: CCDC62 was added
gene: CCDC62 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: CCDC62 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CCDC62 were set to 31985809; 28339613
Phenotypes for gene: CCDC62 were set to Spermatogenic failure 67, MIM# 619803
Review for gene: CCDC62 was set to RED
Added comment: Single individual reported, supportive mouse model.
Sources: Expert list
Mendeliome v0.11656 C6 Ain Roesley Phenotypes for gene: C6 were changed from C6 deficiency MIM#612446 to C6 deficiency MIM#612446
Mendeliome v0.11655 C6 Ain Roesley Publications for gene: C6 were set to 23537992; 24378253; 17257682; 22668955; 32670577
Mendeliome v0.11654 C6 Ain Roesley Mode of inheritance for gene: C6 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11653 C6 Ain Roesley Publications for gene: C6 were set to
Mendeliome v0.11653 C6 Ain Roesley Phenotypes for gene: C6 were changed from to C6 deficiency MIM#612446
Mendeliome v0.11653 C6 Ain Roesley Mode of inheritance for gene: C6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11652 C6 Ain Roesley Marked gene: C6 as ready
Mendeliome v0.11652 C6 Ain Roesley Gene: c6 has been classified as Green List (High Evidence).
Mendeliome v0.11652 C6 Ain Roesley reviewed gene: C6: Rating: GREEN; Mode of pathogenicity: None; Publications: 23537992, 24378253, 17257682, 22668955, 32670577; Phenotypes: C6 deficiency MIM#612446; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.11612 SLC6A9 Zornitza Stark Marked gene: SLC6A9 as ready
Mendeliome v0.11612 SLC6A9 Zornitza Stark Gene: slc6a9 has been classified as Green List (High Evidence).
Mendeliome v0.11612 SLC6A9 Zornitza Stark Phenotypes for gene: SLC6A9 were changed from to Glycine encephalopathy with normal serum glycine, MIM# 617301
Mendeliome v0.11611 SLC6A9 Zornitza Stark Publications for gene: SLC6A9 were set to
Mendeliome v0.11610 SLC6A9 Zornitza Stark Mode of inheritance for gene: SLC6A9 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11609 SLC6A9 Zornitza Stark reviewed gene: SLC6A9: Rating: GREEN; Mode of pathogenicity: None; Publications: 27481395, 27773429, 14622582, 33269555; Phenotypes: Glycine encephalopathy with normal serum glycine, MIM# 617301; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11609 SLC6A8 Zornitza Stark Marked gene: SLC6A8 as ready
Mendeliome v0.11609 SLC6A8 Zornitza Stark Gene: slc6a8 has been classified as Green List (High Evidence).
Mendeliome v0.11609 SLC6A8 Zornitza Stark Phenotypes for gene: SLC6A8 were changed from to Cerebral creatine deficiency syndrome 1, MIM# 300352
Mendeliome v0.11608 SLC6A8 Zornitza Stark Publications for gene: SLC6A8 were set to
Mendeliome v0.11607 SLC6A8 Zornitza Stark Mode of inheritance for gene: SLC6A8 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.10980 THOC6 Zornitza Stark Marked gene: THOC6 as ready
Mendeliome v0.10980 THOC6 Zornitza Stark Gene: thoc6 has been classified as Green List (High Evidence).
Mendeliome v0.10980 THOC6 Zornitza Stark Phenotypes for gene: THOC6 were changed from to Beaulieu-Boycott-Innes syndrome, MIM# 613680
Mendeliome v0.10979 THOC6 Zornitza Stark Publications for gene: THOC6 were set to
Mendeliome v0.10978 THOC6 Zornitza Stark Mode of inheritance for gene: THOC6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10977 THOC6 Zornitza Stark reviewed gene: THOC6: Rating: GREEN; Mode of pathogenicity: None; Publications: 23621916, 26739162, 27102954, 30238602, 30476144; Phenotypes: Beaulieu-Boycott-Innes syndrome, MIM# 613680; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10213 ERCC6 Belinda Chong reviewed gene: ERCC6: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301516 20456449 9443879 8566949; Phenotypes: Cockayne syndrome, type B, MIM#133540, Cerebrooculofacioskeletal syndrome 1, MIM#214150, De Sanctis-Cacchione syndrome, MIM#278800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.8868 ORC6 Zornitza Stark Marked gene: ORC6 as ready
Mendeliome v0.8868 ORC6 Zornitza Stark Gene: orc6 has been classified as Green List (High Evidence).
Mendeliome v0.8868 ORC6 Zornitza Stark Phenotypes for gene: ORC6 were changed from to Meier-Gorlin syndrome 3, MIM# 613803
Mendeliome v0.8867 ORC6 Zornitza Stark Publications for gene: ORC6 were set to
Mendeliome v0.8866 ORC6 Zornitza Stark Mode of inheritance for gene: ORC6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.8865 ORC6 Zornitza Stark reviewed gene: ORC6: Rating: GREEN; Mode of pathogenicity: None; Publications: 21358632, 22333897, 25691413, 26139588; Phenotypes: Meier-Gorlin syndrome 3, MIM# 613803; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7676 SLC6A6 Zornitza Stark Phenotypes for gene: SLC6A6 were changed from Early retinal degeneration; cardiomyopathy to Hypotaurinaemic retinal degeneration and cardiomyopathy (HTRDC), MIM#145350; Early retinal degeneration; cardiomyopathy
Mendeliome v0.6947 TNRC6B Zornitza Stark Phenotypes for gene: TNRC6B were changed from Global developmental delay; Intellectual disability; Autistic behavior to Global developmental delay with speech and behavioural abnormalities, MIM# 619243
Mendeliome v0.6946 TNRC6B Zornitza Stark edited their review of gene: TNRC6B: Changed phenotypes: Global developmental delay with speech and behavioural abnormalities, MIM# 619243
Mendeliome v0.6161 SLC6A20 Zornitza Stark Marked gene: SLC6A20 as ready
Mendeliome v0.6161 SLC6A20 Zornitza Stark Gene: slc6a20 has been classified as Green List (High Evidence).
Mendeliome v0.6161 SLC6A20 Zornitza Stark Phenotypes for gene: SLC6A20 were changed from to Hyperglycinuria, MIM# 138500
Mendeliome v0.6160 SLC6A20 Zornitza Stark Publications for gene: SLC6A20 were set to
Mendeliome v0.6159 SLC6A20 Zornitza Stark Mode of inheritance for gene: SLC6A20 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.6158 SLC6A20 Zornitza Stark reviewed gene: SLC6A20: Rating: GREEN; Mode of pathogenicity: None; Publications: 24816252, 19033659; Phenotypes: Hyperglycinuria, MIM# 138500; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.5474 SEC61A1 Elena Savva reviewed gene: SEC61A1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 28782633, 27392076; Phenotypes: Hyperuricemic nephropathy, familial juvenile, 4, MIM# 617056, Hypogammaglobulinaemia, Neutropaenia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mendeliome v0.5029 LRRC6 Zornitza Stark Marked gene: LRRC6 as ready
Mendeliome v0.5029 LRRC6 Zornitza Stark Gene: lrrc6 has been classified as Green List (High Evidence).
Mendeliome v0.5029 LRRC6 Zornitza Stark Phenotypes for gene: LRRC6 were changed from to Ciliary dyskinesia, primary, 19, MIM# 614935
Mendeliome v0.5028 LRRC6 Zornitza Stark Publications for gene: LRRC6 were set to
Mendeliome v0.5027 LRRC6 Zornitza Stark Mode of inheritance for gene: LRRC6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.5026 LRRC6 Zornitza Stark reviewed gene: LRRC6: Rating: GREEN; Mode of pathogenicity: None; Publications: 23122589, 23891469, 32622824, 29511670; Phenotypes: Ciliary dyskinesia, primary, 19, MIM# 614935; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.4917 GPC6 Zornitza Stark Publications for gene: GPC6 were set to 19481194
Mendeliome v0.4916 GPC6 Elena Savva reviewed gene: GPC6: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 19481194, 32655339; Phenotypes: Omodysplasia 1 MIM#258315; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.4892 GPC6 Zornitza Stark Marked gene: GPC6 as ready
Mendeliome v0.4892 GPC6 Zornitza Stark Gene: gpc6 has been classified as Green List (High Evidence).
Mendeliome v0.4892 GPC6 Zornitza Stark Tag SV/CNV tag was added to gene: GPC6.
Mendeliome v0.4892 GPC6 Zornitza Stark Phenotypes for gene: GPC6 were changed from to Omodysplasia 1 (MIM#258315), AR
Mendeliome v0.4891 GPC6 Zornitza Stark Publications for gene: GPC6 were set to
Mendeliome v0.4890 GPC6 Zornitza Stark Mode of inheritance for gene: GPC6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.4889 GPC6 Kristin Rigbye reviewed gene: GPC6: Rating: GREEN; Mode of pathogenicity: None; Publications: 19481194; Phenotypes: Omodysplasia 1 (MIM#258315), AR; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.4853 ABCC6 Zornitza Stark Marked gene: ABCC6 as ready
Mendeliome v0.4853 ABCC6 Zornitza Stark Gene: abcc6 has been classified as Green List (High Evidence).
Mendeliome v0.4853 ABCC6 Zornitza Stark Tag SV/CNV tag was added to gene: ABCC6.
Mendeliome v0.4850 SLC6A5 Zornitza Stark Marked gene: SLC6A5 as ready
Mendeliome v0.4850 SLC6A5 Zornitza Stark Gene: slc6a5 has been classified as Green List (High Evidence).
Mendeliome v0.4850 SLC6A5 Zornitza Stark Phenotypes for gene: SLC6A5 were changed from to Hyperekplexia 3, MIM# 614618
Mendeliome v0.4849 SLC6A5 Zornitza Stark Publications for gene: SLC6A5 were set to
Mendeliome v0.4848 SLC6A5 Zornitza Stark Mode of pathogenicity for gene: SLC6A5 was changed from to Other
Mendeliome v0.4847 SLC6A5 Zornitza Stark Mode of inheritance for gene: SLC6A5 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.4846 SLC6A5 Zornitza Stark reviewed gene: SLC6A5: Rating: GREEN; Mode of pathogenicity: None; Publications: 31604777, 30847549, 29859229, 16751771; Phenotypes: Hyperekplexia 3, MIM# 614618; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.4843 SLC6A5 Elena Savva reviewed gene: SLC6A5: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 16751771; Phenotypes: Hyperekplexia 3 MIM#614618; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.4826 ABCC6 Zornitza Stark Publications for gene: ABCC6 were set to 11536079
Mendeliome v0.4822 ABCC6 Kristin Rigbye reviewed gene: ABCC6: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 28102862; Phenotypes: Pseudoxanthoma elasticum (MIM#264800), AR; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.4220 TRAPPC6B Zornitza Stark Marked gene: TRAPPC6B as ready
Mendeliome v0.4220 TRAPPC6B Zornitza Stark Gene: trappc6b has been classified as Green List (High Evidence).
Mendeliome v0.4220 TRAPPC6B Zornitza Stark Phenotypes for gene: TRAPPC6B were changed from to Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy, MIM# 617862
Mendeliome v0.4219 TRAPPC6B Zornitza Stark Publications for gene: TRAPPC6B were set to
Mendeliome v0.4218 TRAPPC6B Zornitza Stark Mode of inheritance for gene: TRAPPC6B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.4217 TRAPPC6B Zornitza Stark reviewed gene: TRAPPC6B: Rating: GREEN; Mode of pathogenicity: None; Publications: 28626029, 28397838, 31687267; Phenotypes: Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy, MIM# 617862; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.4134 TRAPPC2L Arina Puzriakova changed review comment from: Gene is associated with Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis in OMIM, but not in G2P.

PMID: 30120216 (2018) - Two unrelated probands with an identical homozygous missense (c.109G>T, p.Asp37Tyr) variant in TRAPPC2L. Both individuals presented neurodevelopmental delay, febrile illness-induced encephalopathy, and episodic rhabdomyolysis, followed by developmental arrest, seizures and tetraplegia. The variant segregated with the phenotype in each family, and haplotype analysis suggested a founder effect.

The mutant protein was expressed in patient fibroblasts, but displayed membrane trafficking delays. Studies in yeast showed that the variant impaired interaction with TRAPPC10, and increased levels of the active RAB11.


PMID: 32843486 (2020) - In an Ashkenazi Jewish family with three affected sibs with GDD/ID, WGS revealed a segregating homozygous missense variant (c.5G>C, p.Ala2Gly) in the TRAPPC2L gene. No seizures, brain MRI abnormalities, or illness provoked regression were documented in this family.

Comparable to the previous study, the variant resulted in delayed ER-to-Golgi trafficking and elevated levels of active RAB11. Studies using yeast and in vitro binding, showed that the variant disrupted interaction with another core TRAPP protein, TRAPPC6a.
Sources: Literature; to: Total of three families, but two share a founder variant, and there are some disparities between the clinical presentations reported in the two publications. Rating Amber as additional cases required to delineate the genotype-phenotype relationship.

PMID: 30120216 (2018) - Two unrelated probands with an identical homozygous missense (c.109G>T, p.Asp37Tyr) variant in TRAPPC2L. Both individuals presented neurodevelopmental delay, febrile illness-induced encephalopathy, and episodic rhabdomyolysis, followed by developmental arrest, seizures and tetraplegia. The variant segregated with the phenotype in each family, and haplotype analysis suggested a founder effect.

The mutant protein was expressed in patient fibroblasts, but displayed membrane trafficking delays. Studies in yeast showed that the variant impaired interaction with TRAPPC10, and increased levels of the active RAB11.


PMID: 32843486 (2020) - In an Ashkenazi Jewish family with three affected sibs with GDD/ID, WGS revealed a segregating homozygous missense variant (c.5G>C, p.Ala2Gly) in the TRAPPC2L gene. No seizures, brain MRI abnormalities, or illness provoked regression were documented in this family.

Comparable to the previous study, the variant resulted in delayed ER-to-Golgi trafficking and elevated levels of active RAB11. Studies using yeast and in vitro binding, showed that the variant disrupted interaction with another core TRAPP protein, TRAPPC6a.

Sources: Literature
Mendeliome v0.4134 TRAPPC2L Arina Puzriakova gene: TRAPPC2L was added
gene: TRAPPC2L was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: TRAPPC2L was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TRAPPC2L were set to 30120216; 32843486
Phenotypes for gene: TRAPPC2L were set to Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis, 618331
Review for gene: TRAPPC2L was set to AMBER
Added comment: Gene is associated with Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis in OMIM, but not in G2P.

PMID: 30120216 (2018) - Two unrelated probands with an identical homozygous missense (c.109G>T, p.Asp37Tyr) variant in TRAPPC2L. Both individuals presented neurodevelopmental delay, febrile illness-induced encephalopathy, and episodic rhabdomyolysis, followed by developmental arrest, seizures and tetraplegia. The variant segregated with the phenotype in each family, and haplotype analysis suggested a founder effect.

The mutant protein was expressed in patient fibroblasts, but displayed membrane trafficking delays. Studies in yeast showed that the variant impaired interaction with TRAPPC10, and increased levels of the active RAB11.


PMID: 32843486 (2020) - In an Ashkenazi Jewish family with three affected sibs with GDD/ID, WGS revealed a segregating homozygous missense variant (c.5G>C, p.Ala2Gly) in the TRAPPC2L gene. No seizures, brain MRI abnormalities, or illness provoked regression were documented in this family.

Comparable to the previous study, the variant resulted in delayed ER-to-Golgi trafficking and elevated levels of active RAB11. Studies using yeast and in vitro binding, showed that the variant disrupted interaction with another core TRAPP protein, TRAPPC6a.
Sources: Literature
Mendeliome v0.4117 CDC6 Seb Lunke Marked gene: CDC6 as ready
Mendeliome v0.4117 CDC6 Seb Lunke Gene: cdc6 has been classified as Red List (Low Evidence).
Mendeliome v0.4117 CDC6 Seb Lunke Phenotypes for gene: CDC6 were changed from to Meier-Gorlin syndrome 5 (MIM#613805)
Mendeliome v0.4116 CDC6 Seb Lunke Publications for gene: CDC6 were set to
Mendeliome v0.4115 CDC6 Seb Lunke Mode of inheritance for gene: CDC6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.4114 CDC6 Seb Lunke Classified gene: CDC6 as Red List (low evidence)
Mendeliome v0.4114 CDC6 Seb Lunke Gene: cdc6 has been classified as Red List (Low Evidence).
Mendeliome v0.4113 CDC6 Ain Roesley reviewed gene: CDC6: Rating: RED; Mode of pathogenicity: None; Publications: 21358632; Phenotypes: Meier-Gorlin syndrome 5 (MIM#613805); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.3950 SEC61A1 Zornitza Stark Marked gene: SEC61A1 as ready
Mendeliome v0.3950 SEC61A1 Zornitza Stark Gene: sec61a1 has been classified as Green List (High Evidence).
Mendeliome v0.3950 SEC61A1 Zornitza Stark Phenotypes for gene: SEC61A1 were changed from to Hyperuricemic nephropathy, familial juvenile, 4, MIM# 617056; Hypogammaglobulinaemia; Neutropaenia
Mendeliome v0.3949 SEC61A1 Zornitza Stark Publications for gene: SEC61A1 were set to
Mendeliome v0.3948 SEC61A1 Zornitza Stark Mode of inheritance for gene: SEC61A1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.3947 SEC61A1 Zornitza Stark reviewed gene: SEC61A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27392076, 32325141, 28782633; Phenotypes: Hyperuricemic nephropathy, familial juvenile, 4, MIM# 617056, Hypogammaglobulinaemia, Neutropaenia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.3914 SLC6A3 Zornitza Stark Marked gene: SLC6A3 as ready
Mendeliome v0.3914 SLC6A3 Zornitza Stark Gene: slc6a3 has been classified as Green List (High Evidence).
Mendeliome v0.3914 SLC6A3 Zornitza Stark Phenotypes for gene: SLC6A3 were changed from to Parkinsonism-dystonia, infantile, 1, MIM# 613135
Mendeliome v0.3913 SLC6A3 Zornitza Stark Publications for gene: SLC6A3 were set to
Mendeliome v0.3912 SLC6A3 Zornitza Stark Mode of inheritance for gene: SLC6A3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.3911 SLC6A3 Zornitza Stark reviewed gene: SLC6A3: Rating: GREEN; Mode of pathogenicity: None; Publications: 21112253; Phenotypes: Parkinsonism-dystonia, infantile, 1, MIM# 613135; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.3674 SEC61B Zornitza Stark Marked gene: SEC61B as ready
Mendeliome v0.3674 SEC61B Zornitza Stark Gene: sec61b has been classified as Amber List (Moderate Evidence).
Mendeliome v0.3674 SEC61B Zornitza Stark Classified gene: SEC61B as Amber List (moderate evidence)
Mendeliome v0.3674 SEC61B Zornitza Stark Gene: sec61b has been classified as Amber List (Moderate Evidence).
Mendeliome v0.3673 SEC61B Zornitza Stark gene: SEC61B was added
gene: SEC61B was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: SEC61B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SEC61B were set to 28862642; 30652979; 28375157
Phenotypes for gene: SEC61B were set to Polycystic liver disease with or without renal cysts
Review for gene: SEC61B was set to AMBER
Added comment: Two unrelated individuals reported.
Sources: Expert list
Mendeliome v0.3057 SLC6A1 Zornitza Stark Marked gene: SLC6A1 as ready
Mendeliome v0.3057 SLC6A1 Zornitza Stark Gene: slc6a1 has been classified as Green List (High Evidence).
Mendeliome v0.3057 SLC6A1 Zornitza Stark Phenotypes for gene: SLC6A1 were changed from to Myoclonic-atonic epilepsy, MIM#616421
Mendeliome v0.3056 SLC6A1 Zornitza Stark Publications for gene: SLC6A1 were set to
Mendeliome v0.3055 SLC6A1 Zornitza Stark Mode of inheritance for gene: SLC6A1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.3050 SLC6A1 Chern Lim reviewed gene: SLC6A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 29315614; Phenotypes: Myoclonic-atonic epilepsy, MIM#616421; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
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 v0.2709 CCDC65 Zornitza Stark Tag founder tag was added to gene: CCDC65.
Mendeliome v0.2709 CCDC65 Zornitza Stark Marked gene: CCDC65 as ready
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 v0.2665 ABCC6 Zornitza Stark Marked gene: ABCC6 as ready
Mendeliome v0.2665 ABCC6 Zornitza Stark Gene: abcc6 has been classified as Green List (High Evidence).
Mendeliome v0.2530 SLC6A6 Zornitza Stark Marked gene: SLC6A6 as ready
Mendeliome v0.2530 SLC6A6 Zornitza Stark Gene: slc6a6 has been classified as Amber List (Moderate Evidence).
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 v0.2440 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 v0.2345 SEC63 Zornitza Stark Marked gene: SEC63 as ready
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 v0.2301 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 v0.1695 ERCC6L2 Zornitza Stark Marked gene: ERCC6L2 as ready
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 v0.1575 ABCC6 Zornitza Stark Marked gene: ABCC6 as ready
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 v0.1405 SLC6A4 Zornitza Stark Marked gene: SLC6A4 as ready
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 v0.46 TNRC6B Zornitza Stark Marked gene: TNRC6B as ready
Mendeliome v0.46 TNRC6B Zornitza Stark Gene: tnrc6b has been classified as Red List (Low Evidence).
Mendeliome v0.46 TNRC6B Zornitza Stark Classified gene: TNRC6B as Red List (low evidence)
Mendeliome v0.46 TNRC6B Zornitza Stark Gene: tnrc6b has been classified as Red List (Low Evidence).
Mendeliome v0.0 TRPC6 Zornitza Stark gene: TRPC6 was added
gene: TRPC6 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TRPC6 was set to Unknown
Mendeliome v0.0 TRAPPC6B Zornitza Stark gene: TRAPPC6B was added
gene: TRAPPC6B was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TRAPPC6B was set to Unknown
Mendeliome v0.0 TNRC6B Zornitza Stark gene: TNRC6B was added
gene: TNRC6B was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TNRC6B was set to Unknown
Mendeliome v0.0 TMC6 Zornitza Stark gene: TMC6 was added
gene: TMC6 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TMC6 was set to Unknown
Mendeliome v0.0 THOC6 Zornitza Stark gene: THOC6 was added
gene: THOC6 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: THOC6 was set to Unknown
Mendeliome v0.0 SLC6A9 Zornitza Stark gene: SLC6A9 was added
gene: SLC6A9 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SLC6A9 was set to Unknown
Mendeliome v0.0 SLC6A8 Zornitza Stark gene: SLC6A8 was added
gene: SLC6A8 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SLC6A8 was set to Unknown
Mendeliome v0.0 SLC6A5 Zornitza Stark gene: SLC6A5 was added
gene: SLC6A5 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SLC6A5 was set to Unknown
Mendeliome v0.0 SLC6A4 Zornitza Stark gene: SLC6A4 was added
gene: SLC6A4 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SLC6A4 was set to Unknown
Mendeliome v0.0 SLC6A3 Zornitza Stark gene: SLC6A3 was added
gene: SLC6A3 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SLC6A3 was set to Unknown
Mendeliome v0.0 SLC6A20 Zornitza Stark gene: SLC6A20 was added
gene: SLC6A20 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SLC6A20 was set to Unknown
Mendeliome v0.0 SLC6A2 Zornitza Stark gene: SLC6A2 was added
gene: SLC6A2 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SLC6A2 was set to Unknown
Mendeliome v0.0 SLC6A19 Zornitza Stark gene: SLC6A19 was added
gene: SLC6A19 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SLC6A19 was set to Unknown
Mendeliome v0.0 SLC6A17 Zornitza Stark gene: SLC6A17 was added
gene: SLC6A17 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SLC6A17 was set to Unknown
Mendeliome v0.0 SLC6A1 Zornitza Stark gene: SLC6A1 was added
gene: SLC6A1 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SLC6A1 was set to Unknown
Mendeliome v0.0 SEC63 Zornitza Stark gene: SEC63 was added
gene: SEC63 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SEC63 was set to Unknown
Mendeliome v0.0 SEC61A1 Zornitza Stark gene: SEC61A1 was added
gene: SEC61A1 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SEC61A1 was set to Unknown
Mendeliome v0.0 ORC6 Zornitza Stark gene: ORC6 was added
gene: ORC6 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ORC6 was set to Unknown
Mendeliome v0.0 LRRC6 Zornitza Stark gene: LRRC6 was added
gene: LRRC6 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: LRRC6 was set to Unknown
Mendeliome v0.0 GPC6 Zornitza Stark gene: GPC6 was added
gene: GPC6 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: GPC6 was set to Unknown
Mendeliome v0.0 ERCC6L2 Zornitza Stark gene: ERCC6L2 was added
gene: ERCC6L2 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ERCC6L2 was set to Unknown
Mendeliome v0.0 ERCC6 Zornitza Stark gene: ERCC6 was added
gene: ERCC6 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ERCC6 was set to Unknown
Mendeliome v0.0 DNAJC6 Zornitza Stark gene: DNAJC6 was added
gene: DNAJC6 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: DNAJC6 was set to Unknown
Mendeliome v0.0 CDC6 Zornitza Stark gene: CDC6 was added
gene: CDC6 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CDC6 was set to Unknown
Mendeliome v0.0 CCDC65 Zornitza Stark gene: CCDC65 was added
gene: CCDC65 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CCDC65 was set to Unknown
Mendeliome v0.0 C6 Zornitza Stark gene: C6 was added
gene: C6 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: C6 was set to Unknown
Mendeliome v0.0 ABCC6 Zornitza Stark gene: ABCC6 was added
gene: ABCC6 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ABCC6 was set to Unknown