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24 Apr 2024	Intellectual disability - microarray and sequencing v5.544	ORC6	Arina Puzriakova Phenotypes for gene: ORC6 were changed from Meier-Gorlin syndrome 3, 613803 to Meier-Gorlin syndrome 3, OMIM:613803
24 Apr 2024	Intellectual disability - microarray and sequencing v5.543	PCNT	Arina Puzriakova Phenotypes for gene: PCNT were changed from Microcephalic osteodysplastic primordial dwarfism, type II, 210720 -3; MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II to Microcephalic osteodysplastic primordial dwarfism, type II, OMIM:210720
24 Apr 2024	Intellectual disability - microarray and sequencing v5.542	RNU4ATAC	Arina Puzriakova Phenotypes for gene: RNU4ATAC were changed from Gene2Phenotype confirmed gene with ID HPO to Lowry-Wood syndrome, OMIM:226960; Microcephalic osteodysplastic primordial dwarfism, type I, OMIM:210710; Roifman syndrome, OMIM:616651
24 Apr 2024	Intellectual disability - microarray and sequencing v5.541	TRAIP	Arina Puzriakova Phenotypes for gene: TRAIP were changed from Seckel syndrome 9, 616777 to Seckel syndrome 9, OMIM:616777
24 Apr 2024	Intellectual disability - microarray and sequencing v5.540	XRCC4	Arina Puzriakova Phenotypes for gene: XRCC4 were changed from PRIMORDIAL DWARFISM to Short stature, microcephaly, and endocrine dysfunction, OMIM:616541
24 Apr 2024	Intellectual disability - microarray and sequencing v5.539	CDC6	Arina Puzriakova Phenotypes for gene: CDC6 were changed from MEIER-GORLIN SYNDROME 5 to Meier-Gorlin syndrome 5, OMIM:613805
24 Apr 2024	Intellectual disability - microarray and sequencing v5.538	CDT1	Arina Puzriakova Phenotypes for gene: CDT1 were changed from MEIER-GORLIN SYNDROME 4 to Meier-Gorlin syndrome 4, OMIM:613804
24 Apr 2024	Intellectual disability - microarray and sequencing v5.537	ATR	Arina Puzriakova Phenotypes for gene: ATR were changed from Seckel syndrome 1, 210600Cutaneous telangiectasia and cancer syndrome, familial, 614564; SECKEL SYNDROME TYPE 1 (SCKL1) to Seckel syndrome 1, OMIM:210600
23 Apr 2024	Intellectual disability - microarray and sequencing v5.536	FEM1B	Zornitza Stark edited their review of gene: FEM1B: Added comment: Five individuals reported now with same recurrent missense variant, NM_015322.5:c.377G>A NP_056137.1:p.(Arg126Gln). Affected individuals shared a severe neurodevelopmental disorder with behavioral phenotypes and a variable set of malformations, including brain anomalies, clubfeet, skeletal abnormalities, and facial dysmorphism. Overexpression of the the FEM1BR126Q variant but not FEM1B wild-type protein, during mouse brain development, resulted in delayed neuronal migration of the target cells.; Changed rating: GREEN; Changed publications to: 31036916, 38465576; Changed phenotypes to: Syndromic disease MONDO:0002254, FEM1B-related
23 Apr 2024	Intellectual disability - microarray and sequencing v5.536	RNU4-2	Zornitza Stark gene: RNU4-2 was added gene: RNU4-2 was added to Intellectual disability - microarray and sequencing. Sources: Literature Mode of inheritance for gene: RNU4-2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: RNU4-2 were set to 38645094 Phenotypes for gene: RNU4-2 were set to Neurodevelopmental disorder, MONDO:0700092, RNU4-2 related Review for gene: RNU4-2 was set to GREEN Added comment: Over 100 individuals reported with NND and heterozygous variants in a 18 bp region of RNU4-2 mapping to two structural elements in the U4/U6 snRNA duplex (the T-loop and Stem III). The vast majority of individuals (77.3%) have the same highly recurrent single base-pair insertion (n.64_65insT). Variants in this region likely explain 0.41% of individuals with NDD. Sources: Literature
23 Apr 2024	Intellectual disability - microarray and sequencing v5.536	ACBD6	Arina Puzriakova Added comment: Comment on phenotypes: This gene now has a relevant phenotype listed in OMIM (MIM# 620785)
23 Apr 2024	Intellectual disability - microarray and sequencing v5.536	ACBD6	Arina Puzriakova Phenotypes for gene: ACBD6 were changed from Neurodevelopmental disorder, MONDO:0700092 to Neurodevelopmental disorder with progressive movement abnormalities, OMIM:620785
23 Apr 2024	Intellectual disability - microarray and sequencing v5.535	GLI3	Arina Puzriakova Tag Q2_24_demote_amber tag was added to gene: GLI3. Tag Q2_24_NHS_review tag was added to gene: GLI3.
23 Apr 2024	Intellectual disability - microarray and sequencing v5.535	GLI3	Arina Puzriakova Phenotypes for gene: GLI3 were changed from Greig cephalopolysyndactyly syndrome, 175700Pallister-Hall syndrome, 146510Polydactyly, preaxial, type IV, 174700Polydactyly, postaxial, types A1 and B, 174200{Hypothalamic hamartomas, somatic}, 241800; GREIG CEPHALOPOLYSYNDACTYLY SYNDROME to Greig cephalopolysyndactyly syndrome, OMIM:175700; Pallister-Hall syndrome, OMIM:146510
23 Apr 2024	Intellectual disability - microarray and sequencing v5.534	GLI3	Arina Puzriakova Publications for gene: GLI3 were set to
23 Apr 2024	Intellectual disability - microarray and sequencing v5.533	GLI3	Arina Puzriakova Classified gene: GLI3 as Green List (high evidence)
23 Apr 2024	Intellectual disability - microarray and sequencing v5.533	GLI3	Arina Puzriakova Added comment: Comment on list classification: Reassessed in view of the Red review by Tracy Lester on this Green gene Rarely, individuals with Greig cephalopolysyndactyly syndrome or GLI3-Related Pallister-Hall syndrome have been found to have intellectual disability (PMID: 12414818; 14708104; 14608643; 34296525). This is usually observed in the most severely affected individuals and those with large deletions encompassing GLI3. The majority of patients have normal psychomotor development or only some mild delays. All GLI3-related disorders are more likely to be recognised in context of other features such as skeletal abnormalities. Overall, I therefore agree that this gene could be demoted to Amber at the next GMS panel update.
23 Apr 2024	Intellectual disability - microarray and sequencing v5.533	GLI3	Arina Puzriakova Gene: gli3 has been classified as Green List (High Evidence).
22 Apr 2024	Intellectual disability - microarray and sequencing v5.532	CPA6	Arina Puzriakova Tag refuted tag was added to gene: CPA6.
22 Apr 2024	Intellectual disability - microarray and sequencing v5.532	CPA6	Arina Puzriakova commented on gene: CPA6
22 Apr 2024	Intellectual disability - microarray and sequencing v5.532	KCNB2	Zornitza Stark gene: KCNB2 was added gene: KCNB2 was added to Intellectual disability - microarray and sequencing. Sources: Literature Mode of inheritance for gene: KCNB2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KCNB2 were set to 38503299 Phenotypes for gene: KCNB2 were set to neurodevelopmental disorder MONDO:0700092, KCNB2-related Review for gene: KCNB2 was set to GREEN Added comment: 7 individuals, all missense 5 de novo + 1x inherited from father who has hypotonia + 1x from asymptomatic father 2/5 MRI anomalies 2/5 cardiac anomalies 2/7 urogenital anomalies 7/7 with ID 2/7 epilepsy 2/7 hypotonia Sources: Literature
22 Apr 2024	Intellectual disability - microarray and sequencing v5.532	GTF3C5	Zornitza Stark gene: GTF3C5 was added gene: GTF3C5 was added to Intellectual disability - microarray and sequencing. Sources: Literature Mode of inheritance for gene: GTF3C5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GTF3C5 were set to 38520561; 35503477 Phenotypes for gene: GTF3C5 were set to neurodevelopmental disorder MONDO:0700092, GTF3C5-related Review for gene: GTF3C5 was set to GREEN Added comment: 4 families/probands with syndromic ID. Loss of function is the expected mechanism. PMID: 38520561 - Biallelic variants identified (3 missense & 1 stopgain) in 4 individuals from 3 families presenting with multisystem developmental syndrome including the features: growth retardation, developmental delay, intellectual disability, dental anomalies, cerebellar malformations, delayed bone age, skeletal anomalies, and facial dysmorphism. Gene-disease relationship supported by: reduced protein expression in patient cells, yeast assays, and a zebrafish model PMID: 35503477 - 1 proband with biallelic missense variants and hypomelanosis of Ito, seizures, growth retardation, abnormal brain MRI, developmental delay, and facial dysmorphism Sources: Literature
22 Apr 2024	Intellectual disability - microarray and sequencing v5.532	DOCK4	Zornitza Stark gene: DOCK4 was added gene: DOCK4 was added to Intellectual disability - microarray and sequencing. Sources: Literature Mode of inheritance for gene: DOCK4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: DOCK4 were set to 38526744 Phenotypes for gene: DOCK4 were set to DOCK4-related neurodevelopmental disorder (MONDO:0060490) Review for gene: DOCK4 was set to GREEN Added comment: 7 unrelated individuals reported with heterozygous variants (missense or null variants) in DOCK4. The individuals either had ID or DD between mild and moderate with brain abnormalities. Two of the individuals are reportedly compound heterozygous. Functional assay neuro-2A Dock4 knockout cells by using the Alt-R CRISPR-Cas9 system utilizing two different guide RNAs (ko1 and ko2) and one nonspecific control guide RNA (C: control). The assay depicted the loss of function mechanism in the presence of either p.Arg853Leu and p.Asp946_Lys1966delinsValSer* (described as 945VS). Sources: Literature
22 Apr 2024	Intellectual disability - microarray and sequencing v5.532	PLXNB2	Zornitza Stark gene: PLXNB2 was added gene: PLXNB2 was added to Intellectual disability - microarray and sequencing. Sources: Literature Mode of inheritance for gene: PLXNB2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PLXNB2 were set to 38458752 Phenotypes for gene: PLXNB2 were set to Syndromic disease MONDO:0002254, PLXNB2 -related Review for gene: PLXNB2 was set to GREEN Added comment: 8 individuals from 6 families with core features of amelogenesis imperfecta and sensorineural hearing loss. Intellectual disability, ocular disease, ear developmental abnormalities and lymphoedema were also present in multiple cases. WES and WGS identified biallelic pathogenic variants in PLXNB2 (missense, nonsense, splice and a multiexon deletion variants). Variants segregated with disease. PLXNB2 is a large transmembrane semaphorin receptor protein, and semaphorin-plexin signalling controls cellular interactions that are critical during development as well as in adult life stages. Plxnb2 expression was detected in differentiating ameloblasts in mice. Human phenotype overlaps with that seen in Plxnb2 knockout mice. Sources: Literature
19 Apr 2024	Intellectual disability - microarray and sequencing v5.532	CEP295	Zornitza Stark edited their review of gene: CEP295: Changed rating: GREEN
19 Apr 2024	Intellectual disability - microarray and sequencing v5.532	CEP295	Zornitza Stark gene: CEP295 was added gene: CEP295 was added to Intellectual disability - microarray and sequencing. Sources: Expert Review Mode of inheritance for gene: CEP295 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CEP295 were set to 38154379 Phenotypes for gene: CEP295 were set to Seckel syndrome 11, OMIM # 620767 Added comment: 4 children from 2 unrelated families with Seckel-like syndrome - severe primary microcephaly, short stature, developmental delay, intellectual disability, facial deformities, and abnormalities of fingers and toes. WES identified biallelic pathogenic variants in CEP295 gene (p(Q544∗) and p(R1520∗); p(R55Efs∗49) and p(P562L)). Patient-derived fibroblasts and CEP295-depleted U2OS and RPE1 cells were used to clarify the underlying mechanisms. Depletion of CEP295 resulted in a decrease in the numbers of centrioles and centrosomes and triggered p53-dependent G1 cell cycle arrest. Loss of CEP295 caused extensive primary ciliary defects in both patient-derived fibroblasts and RPE1 cells. The results from complementary experiments revealed that the wild-type CEP295, but not the mutant protein, can correct the developmental defects of the centrosome/centriole and cilia in the patient-derived skin fibroblasts. Sources: Expert Review
18 Apr 2024	Intellectual disability - microarray and sequencing v5.532	SMAD3	Achchuthan Shanmugasundram changed review comment from: Two out of six cases with single nucleotide variants from DECIPHER database (https://www.deciphergenomics.org/gene/SMAD3/patient-overlap/snvs )were reported with global developmental delay. However, intellectual disability or global developmental delay were not reported as clinical presentations in patients with Loeys-Dietz syndrome 3 (MIM #613795).; to: Two out of six cases with single nucleotide variants from DECIPHER database (https://www.deciphergenomics.org/gene/SMAD3/patient-overlap/snvs) were reported with global developmental delay. However, intellectual disability or global developmental delay were not reported as clinical presentations in patients with Loeys-Dietz syndrome 3 (MIM #613795). Hence the rating should remain amber with current evidence.
18 Apr 2024	Intellectual disability - microarray and sequencing v5.532	SMAD3	Achchuthan Shanmugasundram reviewed gene: SMAD3: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
18 Apr 2024	Intellectual disability - microarray and sequencing v5.532	ZFX	Achchuthan Shanmugasundram Added comment: Comment on phenotypes: This gene has now been associated with phenotype in OMIM (MIM #301118), but not yet in Gene2Phenotype.
18 Apr 2024	Intellectual disability - microarray and sequencing v5.532	ZFX	Achchuthan Shanmugasundram Phenotypes for gene: ZFX were changed from X-linked neurodevelopmental disorder with recurrent facial gestalt to Intellectual developmental disorder, X-linked syndromic 37, OMIM:301118
17 Apr 2024	Intellectual disability - microarray and sequencing v5.531	GAN	Arina Puzriakova changed review comment from: Comment on list classification: Biallelic variants in the GAN gene cause giant axonal neuropathy, characterised by abnormalities in the peripheral and central nervous systems. Though extent of CNS involvement can vary, intellectual disability has been reported in at least 3 unrelated cases to date (PMID: 18595793; 19231187). Therefore, this gene should be promoted to Green at the next GMS panel update.; to: Comment on list classification: Biallelic variants in the GAN gene cause giant axonal neuropathy, characterised by abnormalities in the peripheral and central nervous systems. Though extent of CNS involvement can vary, intellectual disability has been reported in at least 3 unrelated cases (PMID: 18595793; 19231187). Therefore, this gene should be promoted to Green at the next GMS panel update.
17 Apr 2024	Intellectual disability - microarray and sequencing v5.531	GAN	Arina Puzriakova Tag Q2_24_promote_green tag was added to gene: GAN. Tag Q2_24_NHS_review tag was added to gene: GAN.
17 Apr 2024	Intellectual disability - microarray and sequencing v5.531	GAN	Arina Puzriakova Publications for gene: GAN were set to
17 Apr 2024	Intellectual disability - microarray and sequencing v5.530	GAN	Arina Puzriakova Classified gene: GAN as Amber List (moderate evidence)
17 Apr 2024	Intellectual disability - microarray and sequencing v5.530	GAN	Arina Puzriakova Added comment: Comment on list classification: Biallelic variants in the GAN gene cause giant axonal neuropathy, characterised by abnormalities in the peripheral and central nervous systems. Though extent of CNS involvement can vary, intellectual disability has been reported in at least 3 unrelated cases to date (PMID: 18595793; 19231187). Therefore, this gene should be promoted to Green at the next GMS panel update.
17 Apr 2024	Intellectual disability - microarray and sequencing v5.530	GAN	Arina Puzriakova Gene: gan has been classified as Amber List (Moderate Evidence).
17 Apr 2024	Intellectual disability - microarray and sequencing v5.529	GAN	Arina Puzriakova Mode of inheritance for gene: GAN was changed from to BIALLELIC, autosomal or pseudoautosomal
17 Apr 2024	Intellectual disability - microarray and sequencing v5.528	GAN	Arina Puzriakova Phenotypes for gene: GAN were changed from to Giant axonal neuropathy-1, OMIM:256850
17 Apr 2024	Intellectual disability - microarray and sequencing v5.527	SEPHS1	Arina Puzriakova Classified gene: SEPHS1 as Amber List (moderate evidence)
17 Apr 2024	Intellectual disability - microarray and sequencing v5.527	SEPHS1	Arina Puzriakova Added comment: Comment on list classification: There is sufficient evidence to promote this gene to Green at the next GMS panel update.
17 Apr 2024	Intellectual disability - microarray and sequencing v5.527	SEPHS1	Arina Puzriakova Gene: sephs1 has been classified as Amber List (Moderate Evidence).
17 Apr 2024	Intellectual disability - microarray and sequencing v5.526	SEPHS1	Arina Puzriakova Classified gene: SEPHS1 as Amber List (moderate evidence)
17 Apr 2024	Intellectual disability - microarray and sequencing v5.526	SEPHS1	Arina Puzriakova Gene: sephs1 has been classified as Amber List (Moderate Evidence).
17 Apr 2024	Intellectual disability - microarray and sequencing v5.525	SEPHS1	Arina Puzriakova gene: SEPHS1 was added gene: SEPHS1 was added to Intellectual disability - microarray and sequencing. Sources: Literature Q2_24_promote_green tags were added to gene: SEPHS1. Mode of inheritance for gene: SEPHS1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SEPHS1 were set to 38531365 Phenotypes for gene: SEPHS1 were set to Neurodevelopmental disorder, MONDO:0700092 Review for gene: SEPHS1 was set to GREEN Added comment: Mullegama et al. (2024) reported 9 individuals from 8 families with developmental delay, growth and feeding problems, hypotonia, and dysmorphic features, all with heterozygous missense variants in SEPHS1. Eight individuals shared different missense variants at the same p.Arg371 residue in SEPHS1 (p.Arg371Trp, p.Arg371Gln, and p.Arg371Gly); seven of these variants were confirmed as de novo (one unknown). Functional studies showed that variants at the Arg371 residue impact direct protein-protein interactions of SEPSH1 and enhance cell proliferation by modulating ROS homeostasis. Sources: Literature
16 Apr 2024	Intellectual disability - microarray and sequencing v5.524	ADA	Arina Puzriakova Phenotypes for gene: ADA were changed from Severe combined immunodeficiency due to ADA deficiency, 102700; Adenosine deaminase deficiency, partial, 102700 to Severe combined immunodeficiency due to ADA deficiency, OMIM:102700; Adenosine deaminase deficiency, partial, OMIM:102700
15 Apr 2024	Intellectual disability - microarray and sequencing v5.523	FRYL	Arina Puzriakova Classified gene: FRYL as Amber List (moderate evidence)
15 Apr 2024	Intellectual disability - microarray and sequencing v5.523	FRYL	Arina Puzriakova Added comment: Comment on list classification: Rating Amber as overall the evidence is borderline. Only one recent study (PMID:38479391) has reported an disease association for FRYL, with variable phenotypes and results from functional studies, as well as variants in other genes in several cases. Additional studies are required to conclusively corroborate causality (added watchlist tag).
15 Apr 2024	Intellectual disability - microarray and sequencing v5.523	FRYL	Arina Puzriakova Gene: fryl has been classified as Amber List (Moderate Evidence).
15 Apr 2024	Intellectual disability - microarray and sequencing v5.522	FRYL	Arina Puzriakova gene: FRYL was added gene: FRYL was added to Intellectual disability - microarray and sequencing. Sources: Literature watchlist tags were added to gene: FRYL. Mode of inheritance for gene: FRYL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: FRYL were set to 38479391 Phenotypes for gene: FRYL were set to Neurodevelopmental disorder, MONDO:0700092 Review for gene: FRYL was set to AMBER Added comment: New association linking this gene to disease which is not yet listed in OMIM or Gene2Phenotype. There are no sequence variants in Decipher and ClinVar shows only a single pathogenic frameshift variant (c.1224del, p.Lys409fs) for FRYL-associated neurodevelopmental disorder, amongst multiple SNVs which are mostly missense VUS or B/LB. Pan et al., 2024 (PMID: 38479391) reported 14 individuals with heterozygous variant in FRYL who presented with DD/ID, dysmorphic features, and other congenital anomalies in multiple systems. Except for DD/ID which was the only universal feature, observed phenotypes were variable and nonspecific. Variants were confirmed de novo in all except one individual (duo testing excluded paternal inheritance although it was present at low frequency in gnomAD). Variant types include missense (5), fs/stop-gain (8) and canonical splice (1). Modelling 4/5 patient missense variants using flies showed that only one serves as a severe LoF variant, two others behave as partial LoF variants, and one variant had no functional impact (only variant not confirmed as de novo indicating this is a VUS). Four individuals also had P/LP variants in other genes (SF3B4, DHCR7, SLC6A19, SDHA) which could at least partially explain their phenotypes, and a further four harboured additional VUSs. Sources: Literature
11 Apr 2024	Intellectual disability - microarray and sequencing v5.521	DENND5B	Sarah Leigh Classified gene: DENND5B as Amber List (moderate evidence)
11 Apr 2024	Intellectual disability - microarray and sequencing v5.521	DENND5B	Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
11 Apr 2024	Intellectual disability - microarray and sequencing v5.521	DENND5B	Sarah Leigh Gene: dennd5b has been classified as Amber List (Moderate Evidence).
11 Apr 2024	Intellectual disability - microarray and sequencing v5.520	DENND5B	Sarah Leigh Tag Q2_24_promote_green tag was added to gene: DENND5B. Tag Q2_24_NHS_review tag was added to gene: DENND5B.
11 Apr 2024	Intellectual disability - microarray and sequencing v5.520	DENND5B	Sarah Leigh gene: DENND5B was added gene: DENND5B was added to Intellectual disability - microarray and sequencing. Sources: Literature Mode of inheritance for gene: DENND5B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: DENND5B were set to 38387458 Phenotypes for gene: DENND5B were set to DENND5B associated neurodevelopmental disorder Review for gene: DENND5B was set to GREEN Added comment: DENND5B variants have not previously been associated with a phenotype in OMIM, Gen2Phen or MONDO. PMID: 38387458 reports five de novo missense variants in five unrelated cases. The carriers of these DENND5B variants have a neurodevelopmental disorder, which is characterized by psychomotor delay (5/5 cases), intellectual disability, ranging from severe to mild (3/5 cases, although one of the negative cases was a 2 year old child, who was considered to be too young to make the assessment, although the DD/intellectual disability phenotype was considered to be moderate in this case), epilepsy (2/5 cases) and hypotonia (4/5 cases). The authors of PMID: 38387458 also report the functional effects of the DENND5B variants, which revealed defective intracellular vesicle trafficking, with significant impairment of lipid uptake and distribution. They conclude that this effect is likely to be caused by the predicted disruption of protein folding in the variant DENND5B peptide. Sources: Literature
11 Apr 2024	Intellectual disability - microarray and sequencing v5.519	TBC1D2B	Sarah Leigh Tag watchlist was removed from gene: TBC1D2B. Tag Q2_24_promote_green tag was added to gene: TBC1D2B. Tag Q2_24_NHS_review tag was added to gene: TBC1D2B.
11 Apr 2024	Intellectual disability - microarray and sequencing v5.519	TBC1D2B	Sarah Leigh Classified gene: TBC1D2B as Amber List (moderate evidence)
11 Apr 2024	Intellectual disability - microarray and sequencing v5.519	TBC1D2B	Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
11 Apr 2024	Intellectual disability - microarray and sequencing v5.519	TBC1D2B	Sarah Leigh Gene: tbc1d2b has been classified as Amber List (Moderate Evidence).
11 Apr 2024	Intellectual disability - microarray and sequencing v5.518	TBC1D2B	Sarah Leigh reviewed gene: TBC1D2B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
11 Apr 2024	Intellectual disability - microarray and sequencing v5.518	TBC1D2B	Sarah Leigh Publications for gene: TBC1D2B were set to 32623794
11 Apr 2024	Intellectual disability - microarray and sequencing v5.517	TBC1D2B	Sarah Leigh Phenotypes for gene: TBC1D2B were changed from Global developmental delay; Intellectual disability; Seizures; Gingival overgrowth; Behavioral abnormality; Abnormality of the mandible; Abnormality of brain morphology; Abnormality of the eye; Hearing abnormality to Neurodevelopmental disorder with seizures and gingival overgrowth, OMIM:619323; neurodevelopmental disorder with seizures and gingival overgrowth, MONDO:0859148
03 Apr 2024	Intellectual disability - microarray and sequencing v5.515	ASCC3	Arina Puzriakova Added comment: Comment on phenotypes: Gene-checked tag removed as this gene now has a relevant phenotype listed in OMIM (Intellectual developmental disorder, autosomal recessive 81, OMIM:620700)
03 Apr 2024	Intellectual disability - microarray and sequencing v5.515	ASCC3	Arina Puzriakova Phenotypes for gene: ASCC3 were changed from AUTOSOMAL RECESSIVE MENTAL RETARDATION to Intellectual developmental disorder, autosomal recessive 81, OMIM:620700
03 Apr 2024	Intellectual disability - microarray and sequencing v5.514	ASCC3	Arina Puzriakova Tag gene-checked was removed from gene: ASCC3.
03 Apr 2024	Intellectual disability - microarray and sequencing v5.514	PTRHD1	Arina Puzriakova Added comment: Comment on phenotypes: Gene-checked tag removed as this gene now has a relevant phenotype listed in OMIM (Neurodevelopmental disorder with early-onset parkinsonism and behavioral abnormalities, OMIM:620747)
03 Apr 2024	Intellectual disability - microarray and sequencing v5.514	PTRHD1	Arina Puzriakova Phenotypes for gene: PTRHD1 were changed from Intellectual disability; Parkinsonism to Neurodevelopmental disorder with early-onset parkinsonism and behavioral abnormalities, OMIM:620747
03 Apr 2024	Intellectual disability - microarray and sequencing v5.513	PTRHD1	Arina Puzriakova Tag gene-checked was removed from gene: PTRHD1.
03 Apr 2024	Intellectual disability - microarray and sequencing v5.513	SLC32A1	Arina Puzriakova Added comment: Comment on phenotypes: Gene-checked tag removed as this gene now has a relevant phenotype listed in OMIM (Developmental and epileptic encephalopathy 114, OMIM:620774)
03 Apr 2024	Intellectual disability - microarray and sequencing v5.513	SLC32A1	Arina Puzriakova Phenotypes for gene: SLC32A1 were changed from developmental and epileptic encephalopathy, MONDO:0100062 to Developmental and epileptic encephalopathy 114, OMIM:620774
03 Apr 2024	Intellectual disability - microarray and sequencing v5.512	SLC32A1	Arina Puzriakova Tag gene-checked was removed from gene: SLC32A1.
03 Apr 2024	Intellectual disability - microarray and sequencing v5.512	BRD4	Arina Puzriakova Added comment: Comment on phenotypes: Gene-checked tag removed as this gene now has a phenotype listed in OMIM (Cornelia de Lange syndrome 6, OMIM:620568)
03 Apr 2024	Intellectual disability - microarray and sequencing v5.512	BRD4	Arina Puzriakova Phenotypes for gene: BRD4 were changed from Intellectual disability; Microcephaly; Abnormal heart morphology; Abnormality of the face to Cornelia de Lange syndrome 6, OMIM:620568
03 Apr 2024	Intellectual disability - microarray and sequencing v5.511	BRD4	Arina Puzriakova Tag gene-checked was removed from gene: BRD4.
03 Apr 2024	Intellectual disability - microarray and sequencing v5.511	CAPRIN1	Arina Puzriakova Publications for gene: CAPRIN1 were set to 23849776; 35979925; 36136249
03 Apr 2024	Intellectual disability - microarray and sequencing v5.510	CAPRIN1	Arina Puzriakova Added comment: Comment on phenotypes: Gene-checked tag removed as this gene now has a phenotype listed in OMIM (Neurodegeneration, childhood-onset, with cerebellar ataxia and cognitive decline, OMIM:620636)
03 Apr 2024	Intellectual disability - microarray and sequencing v5.510	CAPRIN1	Arina Puzriakova Phenotypes for gene: CAPRIN1 were changed from Global developmental delay; Delayed speech and language development; Intellectual disability; Autistic behaviour; Seizures to Neurodegeneration, childhood-onset, with cerebellar ataxia and cognitive decline, OMIM:620636
03 Apr 2024	Intellectual disability - microarray and sequencing v5.509	CAPRIN1	Arina Puzriakova Tag gene-checked was removed from gene: CAPRIN1.
03 Apr 2024	Intellectual disability - microarray and sequencing v5.509	WNK3	Arina Puzriakova Phenotypes for gene: WNK3 were changed from X-linked intellectual disability, MONDO:0100284 to Prieto syndrome, OMIM:309610; Intellectual disability, MONDO:0001071
03 Apr 2024	Intellectual disability - microarray and sequencing v5.508	WNK3	Arina Puzriakova Tag gene-checked was removed from gene: WNK3.
03 Apr 2024	Intellectual disability - microarray and sequencing v5.508	C12orf4	Arina Puzriakova Phenotypes for gene: C12orf4 were changed from Autosomal recessive intellectual disability to Intellectual developmental disorder, autosomal recessive 66, OMIM:618221
03 Apr 2024	Intellectual disability - microarray and sequencing v5.507	C12orf4	Arina Puzriakova commented on gene: C12orf4
03 Apr 2024	Intellectual disability - microarray and sequencing v5.507	C12orf4	Arina Puzriakova Tag new-gene-name tag was added to gene: C12orf4.
02 Apr 2024	Intellectual disability - microarray and sequencing v5.507	IKBKG	Arina Puzriakova Phenotypes for gene: IKBKG were changed from Incontinentia pigmenti, type II, 308300Ectodermal dysplasia, hypohidrotic, with immune deficiency, 300291Ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency, 300301Immunodeficiency, isolated, 300584{Atypical mycobacteriosis, familial}, 300636Invasive pneumococcal disease, recurrent isolated, 2, 300640; INCONTINENTIA PIGMENTI (IP) to Incontinentia pigmenti, OMIM:308300
27 Mar 2024	Intellectual disability - microarray and sequencing v5.506	ZFX	Tracy Lester reviewed gene: ZFX: Rating: GREEN; Mode of pathogenicity: None; Publications: 38325380; Phenotypes: Intellectual disability, developmental delay, behavioural abnormalities, hypotonia, dysmorphic facies; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
27 Mar 2024	Intellectual disability - microarray and sequencing v5.506	CLEC16A	Arina Puzriakova Tag Q1_24_promote_green tag was added to gene: CLEC16A.
27 Mar 2024	Intellectual disability - microarray and sequencing v5.506	GLI3	Tracy Lester reviewed gene: GLI3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
26 Mar 2024	Intellectual disability - microarray and sequencing v5.506	SRCAP	Arina Puzriakova Phenotypes for gene: SRCAP were changed from Floating-Harbor syndrome, 136140; FLOATING-HARBOR SYNDROME to Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities, OMIM:619595; Floating-Harbor syndrome, OMIM:136140
26 Mar 2024	Intellectual disability - microarray and sequencing v5.505	ABHD5	Arina Puzriakova Phenotypes for gene: ABHD5 were changed from Chanarin-Dorfman syndrome, 275630; CHANARIN-DORFMAN SYNDROME (CDS) to Chanarin-Dorfman syndrome, OMIM:275630
25 Mar 2024	Intellectual disability - microarray and sequencing v5.504	STAMBP	Arina Puzriakova Phenotypes for gene: STAMBP were changed from MICROCEPHALY CAPILLARY MALFORMATION (MIC-CAP) SYNDROME to Microcephaly-capillary malformation syndrome, OMIM:614261
25 Mar 2024	Intellectual disability - microarray and sequencing v5.503	PIK3R2	Arina Puzriakova Phenotypes for gene: PIK3R2 were changed from Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome, 603387; MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1 to Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1, OMIM:603387
20 Mar 2024	Intellectual disability - microarray and sequencing v5.502	ROBO1	Arina Puzriakova Tag watchlist_moi tag was added to gene: ROBO1.
20 Mar 2024	Intellectual disability - microarray and sequencing v5.502	CLEC16A	Sarah Leigh edited their review of gene: CLEC16A: Added comment: Heterozygous CLEC16A variants have been identified as a genetic risk factor for several autoimmune disorders and for Parkinson disease (PMID: 37175930). PMID: 36538041 reports the neurological effect of homozygous terminating CLEC16A variants in two families. In family 1, the first child died at 5 months, he had progressive microcephaly, failure to thrive and cranial CT showed brain atrophy, dilatation of both central and peripheral liquor spaces, hypoplasia of the corpus callosum (no genetic testing was done), the third pregnancy was terminated (17 weeks of gestation) after prenatal ultrasound showed ventriculomegaly, agenesis of corpus callosum (no genetic testing was done), the fourth pregnancy was also terminated (22 weeks of gestation) as the prenatal ultrasound showed agenesis of corpus callosum. This fetus was homozygous for NM_001243403.1(CLEC16A):c.2062 + 5G > A, RT-PRC showed that this variant resulted in the deletion of exon 19 and a frame shift. Both parents and an unaffected sibling were heterozygous for this variant. In family 2, a single affected child was homozygous for NM_001243403.1(CLEC16A):c.-4_12del, p.Met1fs*. This child had progressive microcephaly, failure to thrive, severe global developmental delay, global brain atrophy and died at 6 years. There is no genetic data from the parents or unaffected siblings in Family 2. PMID: 37175930, also presents zebrafish experiments, where mutagenesis of clec16a by CRISPR–Cas9 resulted in accumulated acidic/phagolysosome compartments, in neurons and microglia, and dysregulated mitophagy. This was rescued by wild type CLEC16A, but not by the C-terminal truncated variant. The authors conclude that dysregulation of CLEC16A-mediated endosomal sorting is associated with neurodegeneration.; Changed rating: GREEN; Changed publications to: 36538041; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
19 Mar 2024	Intellectual disability - microarray and sequencing v5.502	CLEC16A	Sarah Leigh Classified gene: CLEC16A as Amber List (moderate evidence)
19 Mar 2024	Intellectual disability - microarray and sequencing v5.502	CLEC16A	Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be green on this panel.
19 Mar 2024	Intellectual disability - microarray and sequencing v5.502	CLEC16A	Sarah Leigh Gene: clec16a has been classified as Amber List (Moderate Evidence).
19 Mar 2024	Intellectual disability - microarray and sequencing v5.501	CLEC16A	Sarah Leigh Publications for gene: CLEC16A were set to 36538041
19 Mar 2024	Intellectual disability - microarray and sequencing v5.500	CLEC16A	Sarah Leigh Publications for gene: CLEC16A were set to PMID: 36538041
19 Mar 2024	Intellectual disability - microarray and sequencing v5.500	CLEC16A	Sarah Leigh Classified gene: CLEC16A as Amber List (moderate evidence)
19 Mar 2024	Intellectual disability - microarray and sequencing v5.500	CLEC16A	Sarah Leigh Gene: clec16a has been classified as Amber List (Moderate Evidence).
19 Mar 2024	Intellectual disability - microarray and sequencing v5.499	ZFHX3	Sarah Leigh edited their review of gene: ZFHX3: Added comment: Personal communication from Nour Elkhateeb (Clinical Fellow in Genomics, Genomics England): we have data about 12 individuals with nonsense/frameshift/exon deletions in ZFHX3. Five of the variants are located in exon 9/10 or exon 9, which has been shown to harbour the highest density of pathogenic variants (PMID: 38412861). Eleven of these cases presented with developmental delay / intellectual disability and a range of other features, including dysmorphology, seizures and failure to thrive.; Changed publications to: 38412861
18 Mar 2024	Intellectual disability - microarray and sequencing v5.499	ZFHX3	Sarah Leigh Tag Q1_24_promote_green tag was added to gene: ZFHX3. Tag Q1_24_NHS_review tag was added to gene: ZFHX3.
18 Mar 2024	Intellectual disability - microarray and sequencing v5.499	ZFHX3	Sarah Leigh reviewed gene: ZFHX3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
18 Mar 2024	Intellectual disability - microarray and sequencing v5.499	ZFHX3	Sarah Leigh Classified gene: ZFHX3 as Amber List (moderate evidence)
18 Mar 2024	Intellectual disability - microarray and sequencing v5.499	ZFHX3	Sarah Leigh Gene: zfhx3 has been classified as Amber List (Moderate Evidence).
18 Mar 2024	Intellectual disability - microarray and sequencing v5.498	ZFHX3	Sarah Leigh gene: ZFHX3 was added gene: ZFHX3 was added to Intellectual disability - microarray and sequencing. Sources: Literature Mode of inheritance for gene: ZFHX3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ZFHX3 were set to 38412861; 38035881; 37292950 Phenotypes for gene: ZFHX3 were set to syndromic intellectual disability
14 Mar 2024	Intellectual disability - microarray and sequencing v5.497	SOX9	Tracy Lester reviewed gene: SOX9: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Skeletal dysplasia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
12 Mar 2024	Intellectual disability - microarray and sequencing v5.497	SPATA5	Arina Puzriakova Phenotypes for gene: SPATA5 were changed from Epilepsy, hearing loss, and mental retardation syndrome, 616577 to Neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities, OMIM:616577
12 Mar 2024	Intellectual disability - microarray and sequencing v5.496	SNF8	Achchuthan Shanmugasundram Classified gene: SNF8 as Amber List (moderate evidence)
12 Mar 2024	Intellectual disability - microarray and sequencing v5.496	SNF8	Achchuthan Shanmugasundram Added comment: Comment on list classification: There are three unrelated cases with intellectual disability and hence this gene can be promoted to green rating in the next GMS review.
12 Mar 2024	Intellectual disability - microarray and sequencing v5.496	SNF8	Achchuthan Shanmugasundram Gene: snf8 has been classified as Amber List (Moderate Evidence).
12 Mar 2024	Intellectual disability - microarray and sequencing v5.495	SNF8	Achchuthan Shanmugasundram Tag Q1_24_promote_green tag was added to gene: SNF8.
12 Mar 2024	Intellectual disability - microarray and sequencing v5.495	SNF8	Achchuthan Shanmugasundram changed review comment from: PMID:38423010 reported nine individuals from six families presenting with a spectrum of neurodevelopmental/ neurodegenerative features caused by biallelic variants in SNF8. The phenotypic spectrum included four individuals with severe developmental and epileptic encephalopathy with leukoencephalopathy and early death in three of those cases. Two individuals died too young to develop epilepsy. A second cohort shows a milder phenotype with intellectual disability, childhood-onset optic atrophy, or ataxia. All mildly affected individuals shared the same hypomorphic variant, c.304G>A (p.Val102Ile) as compound heterozygous. Functional studies using fibroblasts derived from patients and zebrafish model showed loss of function as the disease mechanism. Sources: Literature; to: PMID:38423010 reported nine individuals from six families presenting with a spectrum of neurodevelopmental/ neurodegenerative features caused by biallelic variants in SNF8. The phenotypic spectrum included four individuals with severe developmental and epileptic encephalopathy with leukoencephalopathy and early death in three of those cases. Two individuals died too young to develop epilepsy. A second cohort shows a milder phenotype with intellectual disability, childhood-onset optic atrophy, or ataxia. All mildly affected individuals shared the same hypomorphic variant, c.304G>A (p.Val102Ile) as compound heterozygous. Functional studies using fibroblasts derived from patients and zebrafish model showed loss of function as the disease mechanism. This gene has not yet been associated with any phenotypes either in OMIM or in Gene2Phenotype. Sources: Literature
12 Mar 2024	Intellectual disability - microarray and sequencing v5.495	SNF8	Achchuthan Shanmugasundram gene: SNF8 was added gene: SNF8 was added to Intellectual disability - microarray and sequencing. Sources: Literature Mode of inheritance for gene: SNF8 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SNF8 were set to 38423010 Phenotypes for gene: SNF8 were set to neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071 Review for gene: SNF8 was set to GREEN Added comment: PMID:38423010 reported nine individuals from six families presenting with a spectrum of neurodevelopmental/ neurodegenerative features caused by biallelic variants in SNF8. The phenotypic spectrum included four individuals with severe developmental and epileptic encephalopathy with leukoencephalopathy and early death in three of those cases. Two individuals died too young to develop epilepsy. A second cohort shows a milder phenotype with intellectual disability, childhood-onset optic atrophy, or ataxia. All mildly affected individuals shared the same hypomorphic variant, c.304G>A (p.Val102Ile) as compound heterozygous. Functional studies using fibroblasts derived from patients and zebrafish model showed loss of function as the disease mechanism. Sources: Literature
11 Mar 2024	Intellectual disability - microarray and sequencing v5.494	CCBE1	Arina Puzriakova Phenotypes for gene: CCBE1 were changed from Hennekam lymphangiectasia-lymphedema syndrome, 235510; HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME (HLLS) to Hennekam lymphangiectasia-lymphedema syndrome 1, OMIM:235510
05 Mar 2024	Intellectual disability - microarray and sequencing v5.493	DYNC2H1	Arina Puzriakova commented on gene: DYNC2H1: - PMID: 22589734 (2012) - A 29 Mb deletion encompassing DYNC2H1 was found in one patient with syndromic hirschsprung disease which included moderate mental retardation, mild hydrocephalus, microcephaly, cardiomyopathy and congenital hypotonia. Other candidate genes in this region include CNTN5 and CARD17. Skeletal findings that are typical for DYNC2H1 are not reported. Comment on publications: PMID: 22589734 was identified by the Genomics England Applied Machine Learning (ML) team in a Biocuration-ML project for identifying new gene-disease associations using Natural Language Processing (NLP) and Generative AI techniques
05 Mar 2024	Intellectual disability - microarray and sequencing v5.493	DYNC2H1	Arina Puzriakova Publications for gene: DYNC2H1 were set to
05 Mar 2024	Intellectual disability - microarray and sequencing v5.492	ZNFX1	Sarah Leigh Tag Q1_24_promote_green tag was added to gene: ZNFX1. Tag Q1_24_NHS_review tag was added to gene: ZNFX1.
05 Mar 2024	Intellectual disability - microarray and sequencing v5.492	ZNFX1	Sarah Leigh Classified gene: ZNFX1 as Amber List (moderate evidence)
05 Mar 2024	Intellectual disability - microarray and sequencing v5.492	ZNFX1	Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be green on this panel.
05 Mar 2024	Intellectual disability - microarray and sequencing v5.492	ZNFX1	Sarah Leigh Gene: znfx1 has been classified as Amber List (Moderate Evidence).
05 Mar 2024	Intellectual disability - microarray and sequencing v5.491	ZNFX1	Sarah Leigh edited their review of gene: ZNFX1: Added comment: ZNFX1 variants are associated with Immunodeficiency 91 and hyperinflammation (OMIM:619644). Neurological involvement has been observed in at least 11 patients with OMIM:619644 (PMID:33876776;33872655). Of these, four had seizures, three had developmental regression, and one had developmental delay. The incidence of neurological involvement could be higher, but the mortality of affected children is high; in PMID:33872655 11/15 cases were deceased, with seven of these not surviving to 3 months of age.; Changed rating: GREEN
04 Mar 2024	Intellectual disability - microarray and sequencing v5.491	ZNFX1	Sarah Leigh gene: ZNFX1 was added gene: ZNFX1 was added to Intellectual disability - microarray and sequencing. Sources: Literature Mode of inheritance for gene: ZNFX1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ZNFX1 were set to 33876776; 33872655 Phenotypes for gene: ZNFX1 were set to Immunodeficiency 91 and hyperinflammation, OMIM:619644; immunodeficiency 91 and hyperinflammation, MONDO:0030491 Review for gene: ZNFX1 was set to AMBER Added comment: Sources: Literature
04 Mar 2024	Intellectual disability - microarray and sequencing v5.490	SRPX2	Arina Puzriakova Phenotypes for gene: SRPX2 were changed from Rolandic epilepsy, mental retardation, and speech dyspraxia, 300643 -3; ROLANDIC EPILEPSY WITH SPEECH DYSPRAXIA AND MENTAL RETARDATION X-LINKED (RESDX) to ?Rolandic epilepsy, impaired intellectual development, and speech dyspraxia, OMIM:300643
04 Mar 2024	Intellectual disability - microarray and sequencing v5.489	SMARCAL1	Arina Puzriakova Phenotypes for gene: SMARCAL1 were changed from Gene2Phenotype confirmed gene with ID HPO to Schimke immunoosseous dysplasia, OMIM:242900
04 Mar 2024	Intellectual disability - microarray and sequencing v5.488	SMARCAL1	Arina Puzriakova Publications for gene: SMARCAL1 were set to
04 Mar 2024	Intellectual disability - microarray and sequencing v5.487	SMARCAL1	Arina Puzriakova edited their review of gene: SMARCAL1: Changed phenotypes to: Schimke immunoosseous dysplasia, OMIM:242900
04 Mar 2024	Intellectual disability - microarray and sequencing v5.487	SMARCAL1	Arina Puzriakova reviewed gene: SMARCAL1: Rating: ; Mode of pathogenicity: None; Publications: 28796785, 20301550; Phenotypes: ; Mode of inheritance: None
04 Mar 2024	Intellectual disability - microarray and sequencing v5.487	ZFX	Sarah Leigh changed review comment from: A single ZFX variant has been associated with a neurodevelopmental disorder, that has a Rett syndrome-like phenotype disorder, in a 14 year old male. The ZFX variant was allelic with another X-linked variant in SHROOM4. These variants were inherited from the mother, who had random X inactivation pattern (PMID: 26740508). PMID: 38325380 reports 11 ZFX variants in 18 subjects from 16 unrelated families (14 males and 4 females) with an X-linked neurodevelopmental disorder with recurrent facial gestalt. Seven variants were truncating and the remaining were missense variants within the Zinc finger array. In the pedigree of family 6 (figure 3, PMID: 38325380), it was apparent that there were female carriers of the ZFX variant (GRCh38 chrX: 24229396A>G, c.2438A>G, p.Tyr774Cys) with hyperparathyroidism and two affected males and one affected female, with the neurodevelopmental disorder. It appeared that skewed X-inactivation in the female carriers was responsible for the different phenotypic features. The association between ZFX variants and a novel neurodevelopmental disorder, was further supported by functional studies showing altered transcriptional activity in missense variants and altered behavior in a zebrafish loss-of-function model.; to: To date, germline variants in ZFX have not been associated with a phenotype in OMIM or Gen2Phen. A single ZFX variant has been associated with a neurodevelopmental disorder, that has a Rett syndrome-like phenotype disorder, in a 14 year old male. The ZFX variant was allelic with another X-linked variant in SHROOM4. These variants were inherited from the mother, who had random X inactivation pattern (PMID: 26740508). PMID: 38325380 reports 11 ZFX variants in 18 subjects from 16 unrelated families (14 males and 4 females) with an X-linked neurodevelopmental disorder with recurrent facial gestalt. Seven variants were truncating and the remaining were missense variants within the Zinc finger array. In the pedigree of family 6 (figure 3, PMID: 38325380), it was apparent that there were female carriers of the ZFX variant (GRCh38 chrX: 24229396A>G, c.2438A>G, p.Tyr774Cys) with hyperparathyroidism and two affected males and one affected female, with the neurodevelopmental disorder. It appeared that skewed X-inactivation in the female carriers was responsible for the different phenotypic features. The association between ZFX variants and a novel neurodevelopmental disorder, was further supported by functional studies showing altered transcriptional activity in missense variants and altered behavior in a zebrafish loss-of-function model.
04 Mar 2024	Intellectual disability - microarray and sequencing v5.487	ZFX	Sarah Leigh Phenotypes for gene: ZFX were changed from to X-linked neurodevelopmental disorder with recurrent facial gestalt
04 Mar 2024	Intellectual disability - microarray and sequencing v5.486	ZFX	Sarah Leigh Publications for gene: ZFX were set to 26350204; 26740508
04 Mar 2024	Intellectual disability - microarray and sequencing v5.486	ZFX	Sarah Leigh Classified gene: ZFX as Amber List (moderate evidence)
04 Mar 2024	Intellectual disability - microarray and sequencing v5.486	ZFX	Sarah Leigh Added comment: Comment on list classification: There is sufficient evidence for this gene to be green on this panel.
04 Mar 2024	Intellectual disability - microarray and sequencing v5.486	ZFX	Sarah Leigh Gene: zfx has been classified as Amber List (Moderate Evidence).
04 Mar 2024	Intellectual disability - microarray and sequencing v5.485	ZFX	Sarah Leigh Tag Q1_24_promote_green tag was added to gene: ZFX. Tag Q1_24_NHS_review tag was added to gene: ZFX.
04 Mar 2024	Intellectual disability - microarray and sequencing v5.485	ZFX	Sarah Leigh reviewed gene: ZFX: Rating: GREEN; Mode of pathogenicity: None; Publications: 38325380; Phenotypes: X-linked neurodevelopmental disorder with recurrent facial gestalt; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
04 Mar 2024	Intellectual disability - microarray and sequencing v5.485	AFF2	Arina Puzriakova Phenotypes for gene: AFF2 were changed from Mental retardation, X-linked, FRAXE type, 309548; FRAXE Syndrome; FRAGILE X-E MENTAL RETARDATION SYNDROME (FRAXE) to Intellectual developmental disorder, X-linked 109, OMIM:309548; Fragile XE syndrome (FRAXE)
01 Mar 2024	Intellectual disability - microarray and sequencing v5.484	PPP2R2B	Arina Puzriakova Publications for gene: PPP2R2B were set to
01 Mar 2024	Intellectual disability - microarray and sequencing v5.483	PPP2R2B	Arina Puzriakova edited their review of gene: PPP2R2B: Added comment: - PMID: 25356899 (2014) - missense variant (c.413G>C, p.Arg138Pro) in the PPP2R2B gene identified in a 7-year-old boy with moderate ID, intractable seizures and autistic features. Otherwise limited information provided. Comment on publications: PMID: 25356899 was identified by the Genomics England Applied Machine Learning (ML) team in a Biocuration-ML project for identifying new gene-disease associations using Natural Language Processing (NLP) and Generative AI techniques; Changed publications to: 25356899; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
01 Mar 2024	Intellectual disability - microarray and sequencing v5.483	NXF5	Arina Puzriakova Classified gene: NXF5 as Red List (low evidence)
01 Mar 2024	Intellectual disability - microarray and sequencing v5.483	NXF5	Arina Puzriakova Added comment: Comment on list classification: Maintaining Red rating as evidence linking this gene to ID is not definitive since patient variants have involved multiple genes and no cases of SNVs in the NXF5 gene have been reported.
01 Mar 2024	Intellectual disability - microarray and sequencing v5.483	NXF5	Arina Puzriakova Gene: nxf5 has been classified as Red List (Low Evidence).
01 Mar 2024	Intellectual disability - microarray and sequencing v5.482	NXF5	Arina Puzriakova Added comment: Comment on publications: PMID: 23675524 was identified by the Genomics England Applied Machine Learning (ML) team in a Biocuration-ML project for identifying new gene-disease associations using Natural Language Processing (NLP) and Generative AI techniques
01 Mar 2024	Intellectual disability - microarray and sequencing v5.482	NXF5	Arina Puzriakova Publications for gene: NXF5 were set to 11566096; 26350204; 23675524; 22030050; 20096387
01 Mar 2024	Intellectual disability - microarray and sequencing v5.481	NXF5	Arina Puzriakova Publications for gene: NXF5 were set to 11566096; 26350204; 23675524; 22030050
01 Mar 2024	Intellectual disability - microarray and sequencing v5.480	NXF5	Arina Puzriakova reviewed gene: NXF5: Rating: ; Mode of pathogenicity: None; Publications: 11566096, 20096387, 22030050, 23675524; Phenotypes: ; Mode of inheritance: None
01 Mar 2024	Intellectual disability - microarray and sequencing v5.480	NHEJ1	Arina Puzriakova Phenotypes for gene: NHEJ1 were changed from Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation to Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation, OMIM:611291
01 Mar 2024	Intellectual disability - microarray and sequencing v5.479	KIRREL3	Arina Puzriakova Added comment: Comment on publications: New publication added - PMID:25902260. This paper was identified by the Genomics England Applied Machine Learning (ML) team in a Biocuration-ML project for identifying new gene-disease associations using Natural Language Processing (NLP) and Generative AI techniques Provides review of cases in literature and functional studies demonstrating brain expressed proteins that interact with the KIRREL3 using yeast two-hybrid screening supporting a link to neurological and cognitive disorders. They also show KIRREL3 localisation to the Golgi complex and synaptic secretary vesicles.
01 Mar 2024	Intellectual disability - microarray and sequencing v5.479	KIRREL3	Arina Puzriakova Publications for gene: KIRREL3 were set to 22965935; 19012874; 29271092; 37605258; 33853164
01 Mar 2024	Intellectual disability - microarray and sequencing v5.478	KIF26B	Arina Puzriakova Phenotypes for gene: KIF26B were changed from to Progressive microcephaly, pontocerebellar hypoplasia, and arthrogryposis
01 Mar 2024	Intellectual disability - microarray and sequencing v5.477	INTS1	Arina Puzriakova Phenotypes for gene: INTS1 were changed from Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies, 618571; Hypotonia; Global developmental delay; Cataract; Abnormality of the skeletal system to Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies, OMIM:618571
01 Mar 2024	Intellectual disability - microarray and sequencing v5.476	INTS1	Arina Puzriakova Publications for gene: INTS1 were set to 28542170; 30622326; 17544522
01 Mar 2024	Intellectual disability - microarray and sequencing v5.475	INTS8	Arina Puzriakova Phenotypes for gene: INTS8 were changed from to ?Neurodevelopmental disorder with cerebellar hypoplasia and spasticity, OMIM:618572
29 Feb 2024	Intellectual disability - microarray and sequencing v5.474	EFNB1	Arina Puzriakova Classified gene: EFNB1 as Amber List (moderate evidence)
29 Feb 2024	Intellectual disability - microarray and sequencing v5.474	EFNB1	Arina Puzriakova Added comment: Comment on list classification: Upgrading from Red to Amber as a literature search did reveal evidence to suggest that some individuals may develop intellectual deficits. However, in most affected cases this was a mild presentation and there are more prominent and recognisable features observed in the general group of EFNB1-related cases which are more likely to inform diagnostic testing (e.g. craniosynostosis and clefting).
29 Feb 2024	Intellectual disability - microarray and sequencing v5.474	EFNB1	Arina Puzriakova Gene: efnb1 has been classified as Amber List (Moderate Evidence).
29 Feb 2024	Intellectual disability - microarray and sequencing v5.473	EFNB1	Arina Puzriakova Added comment: Comment on publications: PMID: 25679214 was identified by the Genomics England Applied Machine Learning (ML) team in a Biocuration-ML project for identifying new gene-disease associations using Natural Language Processing (NLP) and Generative AI techniques
29 Feb 2024	Intellectual disability - microarray and sequencing v5.473	EFNB1	Arina Puzriakova Publications for gene: EFNB1 were set to 23335590
29 Feb 2024	Intellectual disability - microarray and sequencing v5.472	EFNB1	Arina Puzriakova reviewed gene: EFNB1: Rating: AMBER; Mode of pathogenicity: None; Publications: 23335590, 25679214, 27650623, 31088393, 24520368; Phenotypes: Craniofrontonasal dysplasia, OMIM:304110; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
28 Feb 2024	Intellectual disability - microarray and sequencing v5.472	EFNB1	Arina Puzriakova Phenotypes for gene: EFNB1 were changed from Gene2Phenotype confirmed gene with ID HPO to Craniofrontonasal dysplasia, OMIM:304110
28 Feb 2024	Intellectual disability - microarray and sequencing v5.471	EFNB1	Arina Puzriakova Publications for gene: EFNB1 were set to
28 Feb 2024	Intellectual disability - microarray and sequencing v5.470	DYNC2H1	Arina Puzriakova Phenotypes for gene: DYNC2H1 were changed from Short-rib thoracic dysplasia 3 with or without polydactyly, 613091 to Short-rib thoracic dysplasia 3 with or without polydactyly, OMIM:613091
27 Feb 2024	Intellectual disability - microarray and sequencing v5.469	KCNA1	Achchuthan Shanmugasundram Phenotypes for gene: KCNA1 were changed from Episodic ataxia/myokymia syndrome, OMIM:160120 to Episodic ataxia/myokymia syndrome, OMIM:160120
27 Feb 2024	Intellectual disability - microarray and sequencing v5.469	KCNA1	Achchuthan Shanmugasundram Phenotypes for gene: KCNA1 were changed from Episodic ataxia/myokymia syndrome, 160120 to Episodic ataxia/myokymia syndrome, OMIM:160120
27 Feb 2024	Intellectual disability - microarray and sequencing v5.468	KCNA1	Achchuthan Shanmugasundram Publications for gene: KCNA1 were set to 27730449; 30055040; 34778950
27 Feb 2024	Intellectual disability - microarray and sequencing v5.468	KCNA1	Achchuthan Shanmugasundram Publications for gene: KCNA1 were set to 27730449
27 Feb 2024	Intellectual disability - microarray and sequencing v5.467	KCNA1	Achchuthan Shanmugasundram Mode of inheritance for gene: KCNA1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
27 Feb 2024	Intellectual disability - microarray and sequencing v5.466	KCNA1	Achchuthan Shanmugasundram Classified gene: KCNA1 as Amber List (moderate evidence)
27 Feb 2024	Intellectual disability - microarray and sequencing v5.466	KCNA1	Achchuthan Shanmugasundram Gene: kcna1 has been classified as Amber List (Moderate Evidence).
27 Feb 2024	Intellectual disability - microarray and sequencing v5.465	KCNA1	Achchuthan Shanmugasundram reviewed gene: KCNA1: Rating: AMBER; Mode of pathogenicity: None; Publications: 30055040, 34778950; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
26 Feb 2024	Intellectual disability - microarray and sequencing v5.465	CTNND2	Arina Puzriakova commented on gene: CTNND2
26 Feb 2024	Intellectual disability - microarray and sequencing v5.465	CTNND2	Arina Puzriakova Phenotypes for gene: CTNND2 were changed from to CTNND2-related neurodevelopmental disorder
26 Feb 2024	Intellectual disability - microarray and sequencing v5.464	CTNND2	Arina Puzriakova Mode of inheritance for gene: CTNND2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
26 Feb 2024	Intellectual disability - microarray and sequencing v5.463	CLIC2	Arina Puzriakova Tag disputed tag was added to gene: CLIC2.
26 Feb 2024	Intellectual disability - microarray and sequencing v5.463	CLIC2	Arina Puzriakova Phenotypes for gene: CLIC2 were changed from Intellectual developmental disorder, X-linked syndromic 32 , OMIM:300886 to Intellectual developmental disorder, X-linked syndromic 32, OMIM:300886
26 Feb 2024	Intellectual disability - microarray and sequencing v5.462	CLIC2	Arina Puzriakova Phenotypes for gene: CLIC2 were changed from Mental retardation, X-linked, syndromic 32, 300886 to Intellectual developmental disorder, X-linked syndromic 32 , OMIM:300886
26 Feb 2024	Intellectual disability - microarray and sequencing v5.461	ARHGEF6	Arina Puzriakova changed review comment from: PMID: 22511880 (2012) - a variant in the ARHGEF6 gene (p.I444N) was identified in a male patient with autism. However, this individual harboured variants in other genes (UBE3B) that were likely to explain their phenotype so conclusions about the consequence of the ARHGEF6 variant cannot be made in this case. Comment on publications: PMID: 22511880 (2012) was identified by the Genomics England Applied Machine Learning (ML) team in a Biocuration-ML project for identifying new gene-disease associations using Natural Language Processing (NLP) and Generative AI techniques; to: PMID: 22511880 (2012) - a variant in the ARHGEF6 gene (p.I444N) was identified in a male patient with autism. However, this individual harboured variants in other genes (UBE3B) that were likely to explain their phenotype so conclusions about the consequence of the ARHGEF6 variant cannot be made in this case. Comment on publications: PMIDs: 22511880 (2012) and 26177020 (2015) were identified by the Genomics England Applied Machine Learning (ML) team in a Biocuration-ML project for identifying new gene-disease associations using Natural Language Processing (NLP) and Generative AI techniques
26 Feb 2024	Intellectual disability - microarray and sequencing v5.461	ARHGEF6	Arina Puzriakova Publications for gene: ARHGEF6 were set to 21989057; 20861843; 17304053; 11017088; 26177020; 22511880
26 Feb 2024	Intellectual disability - microarray and sequencing v5.461	ARHGEF6	Arina Puzriakova Publications for gene: ARHGEF6 were set to 21989057; 20861843; 17304053; 11017088; 26177020
26 Feb 2024	Intellectual disability - microarray and sequencing v5.460	ARHGEF6	Arina Puzriakova commented on gene: ARHGEF6: PMID: 22511880 (2012) - a variant in the ARHGEF6 gene (p.I444N) was identified in a male patient with autism. However, this individual harboured variants in other genes (UBE3B) that were likely to explain their phenotype so conclusions about the consequence of the ARHGEF6 variant cannot be made in this case. Comment on publications: PMID: 22511880 (2012) was identified by the Genomics England Applied Machine Learning (ML) team in a Biocuration-ML project for identifying new gene-disease associations using Natural Language Processing (NLP) and Generative AI techniques
26 Feb 2024	Intellectual disability - microarray and sequencing v5.460	ARHGEF6	Arina Puzriakova Publications for gene: ARHGEF6 were set to 21989057; 20861843; 17304053; 11017088
26 Feb 2024	Intellectual disability - microarray and sequencing v5.459	ARHGEF6	Arina Puzriakova Phenotypes for gene: ARHGEF6 were changed from Mental retardation, X-linked 46, 300436; Mental Retardation, X-linked; MENTAL RETARDATION X-LINKED TYPE 46 to Intellectual developmental disorder, X-linked 46, OMIM:300436
22 Feb 2024	Intellectual disability - microarray and sequencing v5.458	CAMSAP1	Achchuthan Shanmugasundram Classified gene: CAMSAP1 as Amber List (moderate evidence)
22 Feb 2024	Intellectual disability - microarray and sequencing v5.458	CAMSAP1	Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available for the promotion of this gene to green rating in the next GMS review.
22 Feb 2024	Intellectual disability - microarray and sequencing v5.458	CAMSAP1	Achchuthan Shanmugasundram Gene: camsap1 has been classified as Amber List (Moderate Evidence).
22 Feb 2024	Intellectual disability - microarray and sequencing v5.457	CAMSAP1	Achchuthan Shanmugasundram Tag Q1_24_promote_green tag was added to gene: CAMSAP1.
22 Feb 2024	Intellectual disability - microarray and sequencing v5.457	CAMSAP1	Achchuthan Shanmugasundram gene: CAMSAP1 was added gene: CAMSAP1 was added to Intellectual disability - microarray and sequencing. Sources: Literature Mode of inheritance for gene: CAMSAP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CAMSAP1 were set to 36283405 Phenotypes for gene: CAMSAP1 were set to Cortical dysplasia, complex, with other brain malformations 12, OMIM:620316 Review for gene: CAMSAP1 was set to GREEN Added comment: Seven children from five unrelated families were identified with either homozygous or compound heterozygous CAMSAP1 variants and were reported with a severe neurodevelopmental disorder apparent from infancy. Clinical features of the syndrome include a characteristic craniofacial appearance, primary microcephaly, lissencephaly, agenesis or severe hypogenesis of the corpus callosum, severe or profound global developmental delay, cortical visual impairment, and seizures. This gene has been associated with relevant phenotypes in both OMIM (MIM #620316) and in Gene2Phenotype (with 'moderate' rating in the DD panel). Sources: Literature
21 Feb 2024	Intellectual disability - microarray and sequencing v5.456	BAZ2B	Achchuthan Shanmugasundram Classified gene: BAZ2B as Amber List (moderate evidence)
21 Feb 2024	Intellectual disability - microarray and sequencing v5.456	BAZ2B	Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available for the promotion of this gene to green rating in the next GMS review.
21 Feb 2024	Intellectual disability - microarray and sequencing v5.456	BAZ2B	Achchuthan Shanmugasundram Gene: baz2b has been classified as Amber List (Moderate Evidence).
21 Feb 2024	Intellectual disability - microarray and sequencing v5.455	BAZ2B	Achchuthan Shanmugasundram Phenotypes for gene: BAZ2B were changed from neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071 to neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071
21 Feb 2024	Intellectual disability - microarray and sequencing v5.455	BAZ2B	Achchuthan Shanmugasundram Phenotypes for gene: BAZ2B were changed from neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071 to neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071
21 Feb 2024	Intellectual disability - microarray and sequencing v5.455	BAZ2B	Achchuthan Shanmugasundram Phenotypes for gene: BAZ2B were changed from developmental delay, intellectual disability and autism spectrum disorder to neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071
21 Feb 2024	Intellectual disability - microarray and sequencing v5.454	BAZ2B	Achchuthan Shanmugasundram Publications for gene: BAZ2B were set to 31999386; 37872713
21 Feb 2024	Intellectual disability - microarray and sequencing v5.454	BAZ2B	Achchuthan Shanmugasundram Publications for gene: BAZ2B were set to 31999386; 37872713
21 Feb 2024	Intellectual disability - microarray and sequencing v5.454	BAZ2B	Achchuthan Shanmugasundram Publications for gene: BAZ2B were set to PMID: 31999386
21 Feb 2024	Intellectual disability - microarray and sequencing v5.453	BAZ2B	Achchuthan Shanmugasundram Tag Q1_24_promote_green tag was added to gene: BAZ2B.
21 Feb 2024	Intellectual disability - microarray and sequencing v5.453	BAZ2B	Achchuthan Shanmugasundram reviewed gene: BAZ2B: Rating: GREEN; Mode of pathogenicity: None; Publications: 37872713; Phenotypes: neurodevelopmental disorder, MONDO:0700092, intellectual disability, MONDO:0001071; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
21 Feb 2024	Intellectual disability - microarray and sequencing v5.453	KCNA1	Tracy Lester reviewed gene: KCNA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 30055040, 34778950; Phenotypes: epileptic encephalopathy, ataxia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
20 Feb 2024	Intellectual disability - microarray and sequencing v5.453	LRRC32	Achchuthan Shanmugasundram Classified gene: LRRC32 as Amber List (moderate evidence)
20 Feb 2024	Intellectual disability - microarray and sequencing v5.453	LRRC32	Achchuthan Shanmugasundram Gene: lrrc32 has been classified as Amber List (Moderate Evidence).
20 Feb 2024	Intellectual disability - microarray and sequencing v5.452	LRRC32	Achchuthan Shanmugasundram Publications for gene: LRRC32 were set to 30976112
20 Feb 2024	Intellectual disability - microarray and sequencing v5.451	LRRC32	Achchuthan Shanmugasundram reviewed gene: LRRC32: Rating: AMBER; Mode of pathogenicity: None; Publications: 30976112, 35656379; Phenotypes: Cleft palate, proliferative retinopathy, and developmental delay, OMIM:619074; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
20 Feb 2024	Intellectual disability - microarray and sequencing v5.451	ACBD6	Jana Jezkova reviewed gene: ACBD6: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 37951597; Phenotypes: HP:0001263, HP:0001249; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
12 Feb 2024	Intellectual disability - microarray and sequencing v5.451	MADD	Sarah Leigh Phenotypes for gene: MADD were changed from Neurodevelopmental disorder with dysmorphic facies, impaired speech and hypotonia, 619005; DEEAH syndrome, 619004 to DEEAH syndrome, OMIM:619004; deeah syndrome, MONDO:0033561: Neurodevelopmental disorder with dysmorphic facies, impaired speech and hypotonia, OMIM:619005; neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia, MONDO:0033562
12 Feb 2024	Intellectual disability - microarray and sequencing v5.450	DHX37	Sarah Leigh changed review comment from: Comment on mode of inheritance: The mode of inheritance for DHX37 on the Intellectual disability panel should be biallelic as monoallelic variant have not been associated with intellectual disability.; to: Comment on mode of inheritance: The mode of inheritance for DHX37 on the Intellectual disability panel should be biallelic as monoallelic variants have not been associated with intellectual disability.
06 Feb 2024	Intellectual disability - microarray and sequencing v5.450	ABCC9	Sarah Leigh Mode of pathogenicity for gene: ABCC9 was changed from None to None
06 Feb 2024	Intellectual disability - microarray and sequencing v5.450	ABCC9	Sarah Leigh Mode of pathogenicity for gene: ABCC9 was changed from Other to None
06 Feb 2024	Intellectual disability - microarray and sequencing v5.449	ABCC9	Tracy Lester edited their review of gene: ABCC9: Added comment: This gene is currently green for monoallelic inheritance but the associated review relates to cases with biallelic inheritance. The MOI for this gene should be amended to biallelic only. Monoallelic variants are associated with Cantu syndrome which is not primarily an ID disorder or DCM.; Changed rating: GREEN
06 Feb 2024	Intellectual disability - microarray and sequencing v5.449	DHX37	Sarah Leigh Tag Q1_24_MOI tag was added to gene: DHX37. Tag Q1_24_NHS_review tag was added to gene: DHX37.
06 Feb 2024	Intellectual disability - microarray and sequencing v5.449	DHX37	Sarah Leigh Added comment: Comment on mode of inheritance: The mode of inheritance for DHX37 on the Intellectual disability panel should be biallelic as monoallelic variant have not been associated with intellectual disability.
06 Feb 2024	Intellectual disability - microarray and sequencing v5.449	DHX37	Sarah Leigh Mode of inheritance for gene: DHX37 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
06 Feb 2024	Intellectual disability - microarray and sequencing v5.448	DHX37	Sarah Leigh edited their review of gene: DHX37: Added comment: Biallelic DHX37 variants have been associated with Neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies (OMIM:618731). Five DHX37 variants have been reported in three unrelated cases of OMIM:618731. Zebra fish models, support the role of DHX37 variants in aberrant behaviors (PMID: 24027265); Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
06 Feb 2024	Intellectual disability - microarray and sequencing v5.448	ABCC9	Sarah Leigh Added comment: Comment on mode of pathogenicity: Loss of function variants do cause the phenotype of Intellectual disability and myopathy syndrome (OMIM:619719) , which is relevant to this panel.
06 Feb 2024	Intellectual disability - microarray and sequencing v5.448	ABCC9	Sarah Leigh Mode of pathogenicity for gene: ABCC9 was changed from to Other
06 Feb 2024	Intellectual disability - microarray and sequencing v5.447	DHX37	Sarah Leigh Publications for gene: DHX37 were set to 26539891; 31256877
06 Feb 2024	Intellectual disability - microarray and sequencing v5.446	ABCC9	Sarah Leigh Tag watchlist_moi was removed from gene: ABCC9. Tag Q1_24_MOI tag was added to gene: ABCC9. Tag Q1_24_NHS_review tag was added to gene: ABCC9.
06 Feb 2024	Intellectual disability - microarray and sequencing v5.446	ABCC9	Sarah Leigh Phenotypes for gene: ABCC9 were changed from Cardiomyopathy, dilated, 10, 608569; Atrial fibrillation, familial, 12, 614050; Hypertrichotic osteochondrodysplasia, 239850; CANTU SYNDROME HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA to Intellectual disability and myopathy syndrome, OMIM:619719; intellectual disability and myopathy syndrome, MONDO:0859224
06 Feb 2024	Intellectual disability - microarray and sequencing v5.445	ABCC9	Sarah Leigh changed review comment from: Seven homozygous loss of function ABCC9 variants have been reported in seven unrelated cases of Intellectual disability and myopathy syndrome (OMIM:619719)(PMID: 31575858; 38217872). In vivo studies of abcc9 LoF in zebrafish, revealed an exacerbated motor response to pentylenetetrazole, a pro-convulsive drug, consistent with impaired neurodevelopment associated with an increased seizure susceptibility.(PMID: 38217872).; to: Seven homozygous loss of function ABCC9 variants have been reported in seven unrelated cases of Intellectual disability and myopathy syndrome (OMIM:619719)(PMID: 31575858; 38217872). In vivo studies of abcc9 LoF in zebrafish, revealed an exacerbated motor response to pentylenetetrazole, a pro-convulsive drug, consistent with impaired neurodevelopment associated with an increased seizure susceptibility.(PMID: 38217872). Heterozygous parents of the cases, did not show a consistent phenotype, although intrauterine death was reported in two families (PMID: 38217872). In family 4 the fetus was homozygous for c.1858C>T, p.(Arg620Ter) and in family 8 the parents were both heterozygous for c.2140_2141del, p.(Leu714SerfsTer7), but analysis of the fetus was not possible.
06 Feb 2024	Intellectual disability - microarray and sequencing v5.445	ABCC9	Sarah Leigh reviewed gene: ABCC9: Rating: GREEN; Mode of pathogenicity: None; Publications: 38217872; Phenotypes: Intellectual disability and myopathy syndrome, OMIM:619719, intellectual disability and myopathy syndrome, MONDO:0859224; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
06 Feb 2024	Intellectual disability - microarray and sequencing v5.445	ABCC9	Sarah Leigh Publications for gene: ABCC9 were set to 25529582; 24896178; 31575858; 38217872
06 Feb 2024	Intellectual disability - microarray and sequencing v5.444	ABCC9	Sarah Leigh Publications for gene: ABCC9 were set to 25529582; 24896178; 31575858
06 Feb 2024	Intellectual disability - microarray and sequencing v5.443	ABCC9	Sarah Leigh Publications for gene: ABCC9 were set to
06 Feb 2024	Intellectual disability - microarray and sequencing v5.442	MADD	Sarah Leigh edited their review of gene: MADD: Added comment: Comments from Karen Stals (Royal Devon and Exeter Hospital), 4 Dec 2023: Apnoea a presenting feature in 13/14 patients with MADD-related disorder with biallelic MADD variants in Schneeberger et al 2020 PMID: 32761064. Identified biallelic variants in this gene in a patient with a consistent phenotype.; Changed rating: GREEN; Changed publications to: 32761064
05 Feb 2024	Intellectual disability - microarray and sequencing v5.442	KIRREL3	Sarah Leigh Tag Q1_24_promote_green tag was added to gene: KIRREL3.
05 Feb 2024	Intellectual disability - microarray and sequencing v5.442	KIRREL3	Sarah Leigh Phenotypes for gene: KIRREL3 were changed from Mental retardation, autosomal dominant 4, 612581; MENTAL RETARDATION AUTOSOMAL DOMINANT TYPE 4 (MRD4) to Intellectual developmental disorder, autosomal dominant 4, OMIM:612581; intellectual disability, autosomal dominant 4, MONDO:0012947
05 Feb 2024	Intellectual disability - microarray and sequencing v5.441	KIRREL3	Sarah Leigh changed review comment from: At least 15 missense KIRREL3 variants have been reported in 17 unrelated cases with a neurodevelopmental disorder, that includes intellectual disability ranging from mild to severe (PMID: 19012874; 29271092; 33853164; 33853164). Table 1 in PMID: 37605258, lists KIRREL3 variants and demonstrates that the variants maybe either de novo (9/16) or inherited from one of the parents (7/9). (PMID: 37605258). The KIRREL3 variants are either absent from control databases or are present at a very low frequency.; to: At least 12 missense KIRREL3 variants have been reported in 12 unrelated cases with a neurodevelopmental disorder, that includes intellectual disability ranging from mild to severe (PMID: 29271092; 33853164; 33853164). Table 1 in PMID: 37605258, reviews KIRREL3 variants and demonstrates that the variants maybe either de novo (4/11) or inherited from one of the parents (7/11)(mode of inheritance was unknown for one of the variants). The KIRREL3 variants are either absent from controls or are present at a very low frequency. However, the three variants reported in PMID: 19012874, were shown to be present in publicly databases at a high frequency (see KIRREL3 OMIM entry).
05 Feb 2024	Intellectual disability - microarray and sequencing v5.441	KIRREL3	Sarah Leigh Classified gene: KIRREL3 as Amber List (moderate evidence)
05 Feb 2024	Intellectual disability - microarray and sequencing v5.441	KIRREL3	Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
05 Feb 2024	Intellectual disability - microarray and sequencing v5.441	KIRREL3	Sarah Leigh Gene: kirrel3 has been classified as Amber List (Moderate Evidence).
05 Feb 2024	Intellectual disability - microarray and sequencing v5.440	KIRREL3	Sarah Leigh reviewed gene: KIRREL3: Rating: GREEN; Mode of pathogenicity: None; Publications: 29271092; Phenotypes: ; Mode of inheritance: None
05 Feb 2024	Intellectual disability - microarray and sequencing v5.440	KIRREL3	Sarah Leigh Publications for gene: KIRREL3 were set to 22965935; 19012874; 29271092; 29271092; 37605258
05 Feb 2024	Intellectual disability - microarray and sequencing v5.439	KIRREL3	Sarah Leigh Publications for gene: KIRREL3 were set to 22965935; 19012874; 29271092; 29271092:37605258
05 Feb 2024	Intellectual disability - microarray and sequencing v5.438	KIRREL3	Sarah Leigh Publications for gene: KIRREL3 were set to 22965935; 19012874; 33853164; 37605258
05 Feb 2024	Intellectual disability - microarray and sequencing v5.437	KIRREL3	Sarah Leigh Publications for gene: KIRREL3 were set to 22965935; 19012874; 33853164; 33853164; 37605258
05 Feb 2024	Intellectual disability - microarray and sequencing v5.436	KIRREL3	Sarah Leigh Publications for gene: KIRREL3 were set to 22965935; 19012874; 33853164
05 Feb 2024	Intellectual disability - microarray and sequencing v5.435	KIRREL3	Sarah Leigh Mode of inheritance for gene: KIRREL3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
31 Jan 2024	Intellectual disability - microarray and sequencing v5.434	TUSC3	Arina Puzriakova Publications for gene: TUSC3 were set to
31 Jan 2024	Intellectual disability - microarray and sequencing v5.433	TUSC3	Arina Puzriakova Phenotypes for gene: TUSC3 were changed from Mental retardation, autosomal recessive 7, 611093; MENTAL RETARDATION AUTOSOMAL RECESSIVE TYPE 7 (MRT7) to Intellectual developmental disorder, autosomal recessive 7, OMIM:611093
31 Jan 2024	Intellectual disability - microarray and sequencing v5.432	CC2D1A	Arina Puzriakova Publications for gene: CC2D1A were set to
31 Jan 2024	Intellectual disability - microarray and sequencing v5.431	CC2D1A	Arina Puzriakova Phenotypes for gene: CC2D1A were changed from Mental retardation, autosomal recessive 3, 608443; MENTAL RETARDATION AUTOSOMAL RECESSIVE TYPE 3 (MRT3) to Intellectual developmental disorder, autosomal recessive 3, OMIM:608443
31 Jan 2024	Intellectual disability - microarray and sequencing v5.430	RARS	Arina Puzriakova Publications for gene: RARS were set to 31814314; 28905880; 24777941; 30500859
31 Jan 2024	Intellectual disability - microarray and sequencing v5.429	LRRC32	Hannah Knight reviewed gene: LRRC32: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 35656379; Phenotypes: Cleft palate, proliferative retinopathy, and developmental delay; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
31 Jan 2024	Intellectual disability - microarray and sequencing v5.429	RARS	Arina Puzriakova Phenotypes for gene: RARS were changed from Cerebral hypomyelination; Global developmental delay; Intellectual disability; Seizures; Cerebral atrophy; Nystagmus; Ataxia; Feeding difficulties to Leukodystrophy, hypomyelinating, 9, OMIM:616140
31 Jan 2024	Intellectual disability - microarray and sequencing v5.428	ASPM	Arina Puzriakova Publications for gene: ASPM were set to
31 Jan 2024	Intellectual disability - microarray and sequencing v5.427	ASPM	Arina Puzriakova Phenotypes for gene: ASPM were changed from Microcephaly 5, primary, autosomal recessive, 608716; PRIMARY AUTOSOMAL RECESSIVE MICROCEPHALY to Microcephaly 5, primary, autosomal recessive, OMIM:608716
31 Jan 2024	Intellectual disability - microarray and sequencing v5.426	RARS	Arina Puzriakova Publications for gene: RARS were set to 31814314; 28905880; 24777941
31 Jan 2024	Intellectual disability - microarray and sequencing v5.425	WDR62	Arina Puzriakova Publications for gene: WDR62 were set to
31 Jan 2024	Intellectual disability - microarray and sequencing v5.424	WDR62	Arina Puzriakova Phenotypes for gene: WDR62 were changed from Microcephaly, Cortical Malformations, and Mental Retardation; Microcephaly 2, primary, autosomal recessive, with or without cortical malformations, 604317; MICROCEPHALY CORTICAL MALFORMATIONS AND MENTAL RETARDATION (MCMMR) to Microcephaly 2, primary, autosomal recessive, with or without cortical malformations, OMIM:604317
31 Jan 2024	Intellectual disability - microarray and sequencing v5.423	MCPH1	Arina Puzriakova Publications for gene: MCPH1 were set to
31 Jan 2024	Intellectual disability - microarray and sequencing v5.422	MCPH1	Arina Puzriakova Phenotypes for gene: MCPH1 were changed from genetic heterogeneity Microcephaly 1, primary, autosomal recessive, 251200; MICROCEPHALY PRIMARY TYPE 1 (MCPH1) to Microcephaly 1, primary, autosomal recessive, OMIM:251200
31 Jan 2024	Intellectual disability - microarray and sequencing v5.421	HSD17B10	Arina Puzriakova Added comment: Comment on mode of inheritance: Should be updated from 'XL, biallelic in females' to 'XL, monoallelic in females' as female patients harbouring heterozygous variants have been described. Some carrier females shown to have mild to moderate developmental delay or intellectual disability (PMIDs: 12112118; 16148061; 22127393; 34765396)
31 Jan 2024	Intellectual disability - microarray and sequencing v5.421	HSD17B10	Arina Puzriakova Mode of inheritance for gene: HSD17B10 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, biallelic mutations in females
31 Jan 2024	Intellectual disability - microarray and sequencing v5.420	HSD17B10	Arina Puzriakova Tag Q1_24_MOI tag was added to gene: HSD17B10.
31 Jan 2024	Intellectual disability - microarray and sequencing v5.420	HSD17B10	Arina Puzriakova Publications for gene: HSD17B10 were set to
31 Jan 2024	Intellectual disability - microarray and sequencing v5.419	HSD17B10	Arina Puzriakova Phenotypes for gene: HSD17B10 were changed from 17-beta-hydroxysteroid dehydrogenase X deficiency, 300438Mental retardation, X-linked syndromic 10, 300220Mental retardation, X-linked 17/31, microduplication, 300705; 2-METHYL-3-HYDROXYBUTYRYL-COA DEHYDROGENASE DEFICIENCY (MHBD DEFICIENCY) to HSD10 mitochondrial disease, OMIM:300438
31 Jan 2024	Intellectual disability - microarray and sequencing v5.418	COL4A3BP	Arina Puzriakova Publications for gene: COL4A3BP were set to 25533962; 33347465; 34688657; 36976648; 37892645
31 Jan 2024	Intellectual disability - microarray and sequencing v5.417	COL4A3BP	Arina Puzriakova Publications for gene: COL4A3BP were set to 25533962; 33347465; 34688657; 36976648; 37892645
31 Jan 2024	Intellectual disability - microarray and sequencing v5.417	COL4A3BP	Arina Puzriakova Publications for gene: COL4A3BP were set to 25533962; 33347465
31 Jan 2024	Intellectual disability - microarray and sequencing v5.416	COL4A3BP	Arina Puzriakova Phenotypes for gene: COL4A3BP were changed from INTELLECTUAL DISABILITY to Intellectual developmental disorder, autosomal dominant 34, OMIM:616351
31 Jan 2024	Intellectual disability - microarray and sequencing v5.415	COL4A3BP	Arina Puzriakova Publications for gene: COL4A3BP were set to 25533962
31 Jan 2024	Intellectual disability - microarray and sequencing v5.414	GAN	Tracy Lester reviewed gene: GAN: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301315; Phenotypes: Intellectual disability, developmental delay, neuropathy, hypotonia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
30 Jan 2024	Intellectual disability - microarray and sequencing v5.414	KCNA3	Achchuthan Shanmugasundram Classified gene: KCNA3 as Amber List (moderate evidence)
30 Jan 2024	Intellectual disability - microarray and sequencing v5.414	KCNA3	Achchuthan Shanmugasundram Added comment: Comment on list classification: As reported in PMID:37964487 and reviewed by Gavin Ryan, 12 patients had developmental delays, of which nine patients had mild, moderate or severe intellectual disability. Hence, this gene can be promoted to green rating in the next GMS review.
30 Jan 2024	Intellectual disability - microarray and sequencing v5.414	KCNA3	Achchuthan Shanmugasundram Gene: kcna3 has been classified as Amber List (Moderate Evidence).
30 Jan 2024	Intellectual disability - microarray and sequencing v5.413	KCNA3	Achchuthan Shanmugasundram Phenotypes for gene: KCNA3 were changed from Neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071 to Neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071
30 Jan 2024	Intellectual disability - microarray and sequencing v5.413	KCNA3	Achchuthan Shanmugasundram Phenotypes for gene: KCNA3 were changed from Neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071 to Neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071
30 Jan 2024	Intellectual disability - microarray and sequencing v5.413	KCNA3	Achchuthan Shanmugasundram Phenotypes for gene: KCNA3 were changed from Intellectual disability; Developmental Delay; Epilepsy to Neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071
30 Jan 2024	Intellectual disability - microarray and sequencing v5.412	KCNA3	Achchuthan Shanmugasundram Publications for gene: KCNA3 were set to 37964487
30 Jan 2024	Intellectual disability - microarray and sequencing v5.412	KCNA3	Achchuthan Shanmugasundram Publications for gene: KCNA3 were set to PMID: 37964487
30 Jan 2024	Intellectual disability - microarray and sequencing v5.411	KCNA3	Achchuthan Shanmugasundram Tag Q1_24_NHS_review tag was added to gene: KCNA3.
30 Jan 2024	Intellectual disability - microarray and sequencing v5.411	KCNA3	Achchuthan Shanmugasundram Tag Q1_24_promote_green tag was added to gene: KCNA3.
30 Jan 2024	Intellectual disability - microarray and sequencing v5.411	KCNA3	Achchuthan Shanmugasundram reviewed gene: KCNA3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder, MONDO:0700092, intellectual disability, MONDO:0001071; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
30 Jan 2024	Intellectual disability - microarray and sequencing v5.411	LGI3	Achchuthan Shanmugasundram changed review comment from: PMID:35948005 reported sixteen individuals from eight unrelated families with loss-of-function (LoF) bi-allelic variants in LGI3. All of them exhibited a potentially clinically recognizable peripheral nerve hyperexcitability syndrome (PNHS) trait characterized by global developmental delay, intellectual disability, distal deformities with diminished reflexes, visible facial myokymia, and distinctive electromyographic features suggestive of motor nerve instability. All sixteen patients had global developmental delay and all thirteen tested patients had mild or moderate intellectual disability. Lgi3-null mice showed reduced and mis-localized Kv1 channel complexes in myelinated peripheral axons. This gene has been associated with relevant phenotype in OMIM (MIM #620007), but not yet in Gene2Phenotype. Sources: Literature; to: PMID:35948005 reported sixteen individuals from eight unrelated families with loss-of-function (LoF) bi-allelic variants in LGI3. All of them exhibited a potentially clinically recognizable peripheral nerve hyperexcitability syndrome (PNHS) trait characterized by global developmental delay, intellectual disability, distal deformities with diminished reflexes, visible facial myokymia, and distinctive electromyographic features suggestive of motor nerve instability. All sixteen patients had global developmental delay and all thirteen tested patients had mild or moderate intellectual disability. Lgi3-null mice showed reduced and mis-localized Kv1 channel complexes in myelinated peripheral axons. This gene has been associated with relevant phenotypes in OMIM (MIM #620007), but not yet in Gene2Phenotype. Sources: Literature
30 Jan 2024	Intellectual disability - microarray and sequencing v5.411	LGI3	Achchuthan Shanmugasundram Classified gene: LGI3 as Amber List (moderate evidence)
30 Jan 2024	Intellectual disability - microarray and sequencing v5.411	LGI3	Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available (eight unrelated families and mouse model) for the promotion of this gene to green rating in the next GMS review.
30 Jan 2024	Intellectual disability - microarray and sequencing v5.411	LGI3	Achchuthan Shanmugasundram Gene: lgi3 has been classified as Amber List (Moderate Evidence).
30 Jan 2024	Intellectual disability - microarray and sequencing v5.410	LGI3	Achchuthan Shanmugasundram Tag Q1_24_promote_green tag was added to gene: LGI3.
30 Jan 2024	Intellectual disability - microarray and sequencing v5.410	LGI3	Achchuthan Shanmugasundram gene: LGI3 was added gene: LGI3 was added to Intellectual disability - microarray and sequencing. Sources: Literature Mode of inheritance for gene: LGI3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LGI3 were set to 35948005 Phenotypes for gene: LGI3 were set to Intellectual developmental disorder with muscle tone abnormalities and distal skeletal defects, OMIM:620007 Review for gene: LGI3 was set to GREEN Added comment: PMID:35948005 reported sixteen individuals from eight unrelated families with loss-of-function (LoF) bi-allelic variants in LGI3. All of them exhibited a potentially clinically recognizable peripheral nerve hyperexcitability syndrome (PNHS) trait characterized by global developmental delay, intellectual disability, distal deformities with diminished reflexes, visible facial myokymia, and distinctive electromyographic features suggestive of motor nerve instability. All sixteen patients had global developmental delay and all thirteen tested patients had mild or moderate intellectual disability. Lgi3-null mice showed reduced and mis-localized Kv1 channel complexes in myelinated peripheral axons. This gene has been associated with relevant phenotype in OMIM (MIM #620007), but not yet in Gene2Phenotype. Sources: Literature
29 Jan 2024	Intellectual disability - microarray and sequencing v5.409	KCNA3	Gavin Ryan gene: KCNA3 was added gene: KCNA3 was added to Intellectual disability - microarray and sequencing. Sources: Expert Review Mode of inheritance for gene: KCNA3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KCNA3 were set to PMID: 37964487 Phenotypes for gene: KCNA3 were set to Intellectual disability; Developmental Delay; Epilepsy Penetrance for gene: KCNA3 were set to unknown Review for gene: KCNA3 was set to GREEN Added comment: Soldovieri et al identified 14 de novo missense variants in KCNA3 gene. The majority of individuals presented with ID, developmental delay, and epilepsy, amongst other features. Functional studies showed loss-of-function effects for some variants and possible gain-of-function for others. One of these variants has also been identified in NHS GMS WGS patient with consistent features. Sources: Expert Review
26 Jan 2024	Intellectual disability - microarray and sequencing v5.409	BAZ2B	Dmitrijs Rots gene: BAZ2B was added gene: BAZ2B was added to Intellectual disability - microarray and sequencing. Sources: Literature Mode of inheritance for gene: BAZ2B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: BAZ2B were set to PMID: 31999386 Phenotypes for gene: BAZ2B were set to developmental delay, intellectual disability and autism spectrum disorder Review for gene: BAZ2B was set to GREEN Added comment: BAZ2B gene is intolerant to LoF variants in population (pLI=1) and PMID: 31999386 described that de novo LoF variants are statistically enriched among NDD cases & summarize 10 cases. Enough evidence for the green rating. Sources: Literature
25 Jan 2024	Intellectual disability - microarray and sequencing v5.409	ABCC9	Tracy Lester reviewed gene: ABCC9: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
24 Jan 2024	Intellectual disability - microarray and sequencing v5.409	MTSS1L	Achchuthan Shanmugasundram edited their review of gene: MTSS1L: Changed phenotypes to: Intellectual developmental disorder with ocular anomalies and distinctive facial features, OMIM:620086
24 Jan 2024	Intellectual disability - microarray and sequencing v5.409	MTSS1L	Achchuthan Shanmugasundram changed review comment from: Added new-gene-name tag, new approved HGNC gene symbol for MTSS1L is MTSS2.; to: New approved HGNC gene symbol for MTSS1L is MTSS2.
24 Jan 2024	Intellectual disability - microarray and sequencing v5.409	MTSS1L	Achchuthan Shanmugasundram commented on gene: MTSS1L
24 Jan 2024	Intellectual disability - microarray and sequencing v5.409	PRODH	Arina Puzriakova Phenotypes for gene: PRODH were changed from Hyperprolinemia, type I, OMIM; 239500; {Schizophrenia, susceptibility to, OMIM:4}, 600850 to Hyperprolinemia, type I, OMIM:239500; {Schizophrenia, susceptibility to, OMIM:4}, 600850
23 Jan 2024	Intellectual disability - microarray and sequencing v5.408	PRICKLE1	Arina Puzriakova Phenotypes for gene: PRICKLE1 were changed from Progressive myoclonic epilepsy 1B OMIM:612437; epilepsy, progressive myoclonic, 1B MONDO:0012904 to Epilepsy, progressive myoclonic 1B, OMIM:612437
23 Jan 2024	Intellectual disability - microarray and sequencing v5.407	PRX	Arina Puzriakova Phenotypes for gene: PRX were changed from Dejerine-Sottas disease, 145900; Charcot-Marie-Tooth disease, type 4F, 614895 to Charcot-Marie-Tooth disease, type 4F, OMIM:614895; Dejerine-Sottas disease, OMIM:145900
23 Jan 2024	Intellectual disability - microarray and sequencing v5.406	MTOR	Sarah Leigh Publications for gene: MTOR were set to 26542245; 27830187; 25851998; 28892148; DOI: 10.4137/JGE.S12583; 27159400
23 Jan 2024	Intellectual disability - microarray and sequencing v5.405	DHX37	Tracy Lester reviewed gene: DHX37: Rating: GREEN; Mode of pathogenicity: None; Publications: 26539891, 31256877, 35982159; Phenotypes: Intellectual disability, developmental delay; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
23 Jan 2024	Intellectual disability - microarray and sequencing v5.405	FAM111A	Achchuthan Shanmugasundram Tag Q4_23_expert_review tag was added to gene: FAM111A.
17 Jan 2024	Intellectual disability - microarray and sequencing v5.405	ACBD6	Arina Puzriakova Classified gene: ACBD6 as Amber List (moderate evidence)
17 Jan 2024	Intellectual disability - microarray and sequencing v5.405	ACBD6	Arina Puzriakova Added comment: Comment on list classification: There is sufficient evidence to promote this gene to Green at the next GMS panel update.
17 Jan 2024	Intellectual disability - microarray and sequencing v5.405	ACBD6	Arina Puzriakova Gene: acbd6 has been classified as Amber List (Moderate Evidence).
17 Jan 2024	Intellectual disability - microarray and sequencing v5.404	ACBD6	Arina Puzriakova Publications for gene: ACBD6 were set to 21937992; 32108178
17 Jan 2024	Intellectual disability - microarray and sequencing v5.403	ACBD6	Arina Puzriakova Phenotypes for gene: ACBD6 were changed from Intellectual disability to Neurodevelopmental disorder, MONDO:0700092
17 Jan 2024	Intellectual disability - microarray and sequencing v5.402	ACBD6	Arina Puzriakova Tag Q1_24_promote_green tag was added to gene: ACBD6.
17 Jan 2024	Intellectual disability - microarray and sequencing v5.402	ACBD6	Arina Puzriakova edited their review of gene: ACBD6: Added comment: - PMID: 21937992 (2011) - single individuals with a p.G22fs variant in the ACBD6 gene, presenting with mild ID, microcephaly, facial dysmorphism, spasticity. Limited additional information. - PMID: 32108178 (2020) - two unrelated individuals with neurodevelopmental disorder (moderate ID is noted but otherwise limited clinical information) and carrying homozygous LoF variants in the ACBD6 gene (1 frameshift, 1 canonical splice). One individual also carried an allelic homozygous variant in the PRDX6 gene (unlikely but unknown disease consequence). Skin-derived patient fibroblasts showed reduced ACBD6 expression and N-myristoylation deficiency. - PMID: 36457943 (2023) - two Thai siblings presenting with profound ID, morbid obesity, pancytopenia with severe recurrent infections, diabetes mellitus, cirrhosis, and renal failure, leading to deaths in their early 30s. Sequencing showed a novel homozygous single bp duplication (c.360dup; p.Leu121Thrfs*27) in the ACBD6 gene. Parents were heterozygous carriers. - PMID: 37951597 (2023) - 45 previously undiagnosed individuals from 28 families with a neurodevelopmental syndrome including a complex and progressive movement disorder phenotype. Cardinal clinical features include moderate-to-severe GDD/ID (45/45), facial dysmorphism (38/40), HC <2nd percentile (21/31), weight >50th percentile (20/34), mild cerebellar ataxia (35/41), limb spasticity/hypertonia (31/41), gait abnormalities (33/35), dystonia (30/32) and variable epilepsy (13/29). Homozygous ACBD6 variants were identified by WES in all cases, including 18 predicted LoF, 1 missense and 1 inframe insertion. Knockout studies in zebrafish recapitulate clinical features reported in patients such as movement disorders, seizures, and facial dysmorphology, while inactivation of acbd6 in X. tropicalis predominantly caused embryo death while surviving tadpoles demonstrated microcephaly, reduced movement, eye abnormalities, and brain structure differences.; Changed rating: GREEN; Changed publications to: 21937992, 32108178, 36457943, 37951597; Changed phenotypes to: Neurodevelopmental disorder, MONDO:0700092; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
17 Jan 2024	Intellectual disability - microarray and sequencing v5.402	ACBD6	Arina Puzriakova Added comment: Comment on publications: PMID: 32108178 (2020) paper was identified by the Genomics England Applied Machine Learning (ML) team in a Biocuration-ML project for identifying new gene-disease associations using Natural Language Processing (NLP) and Generative AI techniques
17 Jan 2024	Intellectual disability - microarray and sequencing v5.402	ACBD6	Arina Puzriakova Publications for gene: ACBD6 were set to 21937992; 32108178
16 Jan 2024	Intellectual disability - microarray and sequencing v5.401	KIRREL3	Dmitrijs Rots reviewed gene: KIRREL3: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 37605258; Phenotypes: NDD; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
15 Jan 2024	Intellectual disability - microarray and sequencing v5.401	ACBD6	Sarah Leigh Classified gene: ACBD6 as Amber List (moderate evidence)
15 Jan 2024	Intellectual disability - microarray and sequencing v5.401	ACBD6	Sarah Leigh Gene: acbd6 has been classified as Amber List (Moderate Evidence).
15 Jan 2024	Intellectual disability - microarray and sequencing v5.401	ACBD6	Sarah Leigh Classified gene: ACBD6 as Amber List (moderate evidence)
15 Jan 2024	Intellectual disability - microarray and sequencing v5.401	ACBD6	Sarah Leigh Gene: acbd6 has been classified as Amber List (Moderate Evidence).
15 Jan 2024	Intellectual disability - microarray and sequencing v5.400	ACBD6	Sarah Leigh edited their review of gene: ACBD6: Added comment: ACBD6 variants have not been associated with a phenotype in OMIM, and as an autosomal recessive condition with Limited strength in Gen2Phen. Three variants have been reported in three unrelated cases with intellectual disability, however, in one of these carriers the ACBD6 variant was allelic with PRDX6 gene c.136del; p.(ValCysfs*23), therefore the contribution of the ACBD6 variant to intellectual disability is uncertain in this case (PMID: 21937992, 32108178).; Changed rating: AMBER
15 Jan 2024	Intellectual disability - microarray and sequencing v5.400	ACBD6	Sarah Leigh Publications for gene: ACBD6 were set to 21937992
10 Jan 2024	Intellectual disability - microarray and sequencing v5.399	RPL10	Achchuthan Shanmugasundram Phenotypes for gene: RPL10 were changed from Intellectual developmental disorder, X-linked syndromic 35, OMIM:300998 to Intellectual developmental disorder, X-linked syndromic 35, OMIM:300998
10 Jan 2024	Intellectual disability - microarray and sequencing v5.399	RPL10	Achchuthan Shanmugasundram Phenotypes for gene: RPL10 were changed from Mental retardation, X-linked, syndromic, 35, 300998 to Intellectual developmental disorder, X-linked syndromic 35, OMIM:300998
10 Jan 2024	Intellectual disability - microarray and sequencing v5.398	RPL10	Achchuthan Shanmugasundram Publications for gene: RPL10 were set to 25316788; 25316788; 25316788; 35876338
10 Jan 2024	Intellectual disability - microarray and sequencing v5.398	RPL10	Achchuthan Shanmugasundram Publications for gene: RPL10 were set to 25316788; 25316788; 25316788; 35876338
10 Jan 2024	Intellectual disability - microarray and sequencing v5.398	RPL10	Achchuthan Shanmugasundram Publications for gene: RPL10 were set to 25316788; 25316788; 25316788; 35876338
10 Jan 2024	Intellectual disability - microarray and sequencing v5.397	RPL10	Achchuthan Shanmugasundram Publications for gene: RPL10 were set to 25316788; 25316788; 25316788; 35876338
10 Jan 2024	Intellectual disability - microarray and sequencing v5.397	RPL10	Achchuthan Shanmugasundram Publications for gene: RPL10 were set to 25316788
10 Jan 2024	Intellectual disability - microarray and sequencing v5.396	RPL10	Achchuthan Shanmugasundram Added comment: Comment on mode of inheritance: As reviewed by Sarah Leigh and Dmitrijs Rots, all the cases reported previously in literature and recently in PMID:35876338 were males with hemizygous RPL10 variants. The females were carriers and showed fully skewed X inactivation of the mutation-bearing X chromosomes. In addition, this gene has been associated with relevant phenotypes in both OMIM (MIM #300998) and Gene2Phenotype (with 'definitive' rating on the DD panel). The MOI has been recorded as 'X-linked recessive' in OMIM. The MOI should therefore be updated from 'X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)' to 'X-LINKED: hemizygous mutation in males, biallelic mutations in females' in the next GMS review.
10 Jan 2024	Intellectual disability - microarray and sequencing v5.396	RPL10	Achchuthan Shanmugasundram Mode of inheritance for gene: RPL10 was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
10 Jan 2024	Intellectual disability - microarray and sequencing v5.395	RPL10	Achchuthan Shanmugasundram Tag Q4_23_MOI tag was added to gene: RPL10.
10 Jan 2024	Intellectual disability - microarray and sequencing v5.395	RPL10	Achchuthan Shanmugasundram reviewed gene: RPL10: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Intellectual developmental disorder, X-linked syndromic 35, OMIM:300998; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
10 Jan 2024	Intellectual disability - microarray and sequencing v5.395	RELN	Achchuthan Shanmugasundram changed review comment from: Comment on mode of inheritance: The MOI should be updated from "BIALLELIC, autosomal or pseudoautosomal"to "BOTH monoallelic and biallelic, autosomal or pseudoautosomal" as there are three unrelated cases with monoallelic RELN variants and intellectual disability reported in the literature.; to: Comment on mode of inheritance: The MOI should be updated from "BIALLELIC, autosomal or pseudoautosomal" to "BOTH monoallelic and biallelic, autosomal or pseudoautosomal" in the next GMS review as there are three unrelated cases with monoallelic RELN variants and intellectual disability reported in the literature.
10 Jan 2024	Intellectual disability - microarray and sequencing v5.395	RELN	Achchuthan Shanmugasundram Added comment: Comment on mode of inheritance: The MOI should be updated from "BIALLELIC, autosomal or pseudoautosomal"to "BOTH monoallelic and biallelic, autosomal or pseudoautosomal" as there are three unrelated cases with monoallelic RELN variants and intellectual disability reported in the literature.
10 Jan 2024	Intellectual disability - microarray and sequencing v5.395	RELN	Achchuthan Shanmugasundram Mode of inheritance for gene: RELN was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
10 Jan 2024	Intellectual disability - microarray and sequencing v5.394	RELN	Achchuthan Shanmugasundram Phenotypes for gene: RELN were changed from Lissencephaly 2 (Norman-Roberts type), OMIM:257320; neurodevelopmental disorder, MONDO:0700092 to Lissencephaly 2 (Norman-Roberts type), OMIM:257320; neurodevelopmental disorder, MONDO:0700092
10 Jan 2024	Intellectual disability - microarray and sequencing v5.394	RELN	Achchuthan Shanmugasundram Phenotypes for gene: RELN were changed from Lissencephaly 2 (Norman-Roberts type), OMIM:257320; neurodevelopmental disorder, MONDO:0700092 to Lissencephaly 2 (Norman-Roberts type), OMIM:257320; neurodevelopmental disorder, MONDO:0700092
10 Jan 2024	Intellectual disability - microarray and sequencing v5.393	RELN	Achchuthan Shanmugasundram Tag Q4_23_MOI tag was added to gene: RELN.
10 Jan 2024	Intellectual disability - microarray and sequencing v5.393	RELN	Achchuthan Shanmugasundram Phenotypes for gene: RELN were changed from Lissencephaly 2 (Norman-Roberts type), OMIM:257320; neurodevelopmental disorder, MONDO:0700092 to Lissencephaly 2 (Norman-Roberts type), OMIM:257320; neurodevelopmental disorder, MONDO:0700092
10 Jan 2024	Intellectual disability - microarray and sequencing v5.393	RELN	Achchuthan Shanmugasundram Phenotypes for gene: RELN were changed from Lissencephaly 2 (Norman-Roberts type), OMIM:257320; neurodevelopmental disorder, MONDO:0700092 to Lissencephaly 2 (Norman-Roberts type), OMIM:257320; neurodevelopmental disorder, MONDO:0700092
10 Jan 2024	Intellectual disability - microarray and sequencing v5.393	RELN	Achchuthan Shanmugasundram Phenotypes for gene: RELN were changed from Lissencephaly 2 (Norman-Roberts type), 257320; LISSENCEPHALY 2 to Lissencephaly 2 (Norman-Roberts type), OMIM:257320; neurodevelopmental disorder, MONDO:0700092
10 Jan 2024	Intellectual disability - microarray and sequencing v5.392	RELN	Achchuthan Shanmugasundram Publications for gene: RELN were set to
10 Jan 2024	Intellectual disability - microarray and sequencing v5.391	RELN	Achchuthan Shanmugasundram reviewed gene: RELN: Rating: GREEN; Mode of pathogenicity: None; Publications: 35769015; Phenotypes: Lissencephaly 2 (Norman-Roberts type), OMIM:257320, neurodevelopmental disorder, MONDO:0700092; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
09 Jan 2024	Intellectual disability - microarray and sequencing v5.391	CLDN11	Achchuthan Shanmugasundram Deleted their comment
09 Jan 2024	Intellectual disability - microarray and sequencing v5.391	CLDN11	Achchuthan Shanmugasundram Classified gene: CLDN11 as Amber List (moderate evidence)
09 Jan 2024	Intellectual disability - microarray and sequencing v5.391	CLDN11	Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available (three unrelated patients) for the promotion of this gene to green rating in the next GMS review.
09 Jan 2024	Intellectual disability - microarray and sequencing v5.391	CLDN11	Achchuthan Shanmugasundram Gene: cldn11 has been classified as Amber List (Moderate Evidence).
09 Jan 2024	Intellectual disability - microarray and sequencing v5.390	CLDN11	Achchuthan Shanmugasundram Classified gene: CLDN11 as Amber List (moderate evidence)
09 Jan 2024	Intellectual disability - microarray and sequencing v5.390	CLDN11	Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available (three unrelated patients) for the promotion of this gene to green rating in the next GMS review.
09 Jan 2024	Intellectual disability - microarray and sequencing v5.390	CLDN11	Achchuthan Shanmugasundram Gene: cldn11 has been classified as Amber List (Moderate Evidence).
09 Jan 2024	Intellectual disability - microarray and sequencing v5.389	CLDN11	Achchuthan Shanmugasundram Tag Q4_23_promote_green tag was added to gene: CLDN11.
09 Jan 2024	Intellectual disability - microarray and sequencing v5.389	CLDN11	Achchuthan Shanmugasundram gene: CLDN11 was added gene: CLDN11 was added to Intellectual disability - microarray and sequencing. Sources: Literature Mode of inheritance for gene: CLDN11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CLDN11 were set to 33313762 Phenotypes for gene: CLDN11 were set to Leukodystrophy, hypomyelinating, 22, OMIM:619328 Review for gene: CLDN11 was set to GREEN Added comment: PMID:33313762 reported three unrelated individuals with early-onset spastic movement disorder, expressive speech disorder and eye abnormalities including hypermetropia. These patients exhibit global developmental delay, particularly motor and speech delay. Intellectual disability was maximally mild in two of three individuals and the intelligence is in a low-normal range in third individual, although IQ testing was not performed in them. Two different heterozygous de novo stop-loss variants were identified in these patients. One of the variants did not lead to a loss of CLDN11 expression on RNA level in fibroblasts indicating this transcript is not subject to nonsense-mediated decay and most likely translated into an extended protein. This gene has been associated with hypomyelinating leukodystrophy in OMIM, which includes global developmental delay and impaired intellectual development (mild) as clinical presentations. However, this gene has not yet been associated with phenotypes in Gene2Phenotype. Sources: Literature
09 Jan 2024	Intellectual disability - microarray and sequencing v5.388	RARB	Achchuthan Shanmugasundram Mode of pathogenicity for gene: RARB was changed from None to None
09 Jan 2024	Intellectual disability - microarray and sequencing v5.388	RARB	Achchuthan Shanmugasundram Mode of pathogenicity for gene: RARB was changed from None to None
09 Jan 2024	Intellectual disability - microarray and sequencing v5.387	RARB	Achchuthan Shanmugasundram Mode of pathogenicity for gene: RARB was changed from None to None
09 Jan 2024	Intellectual disability - microarray and sequencing v5.388	RARB	Achchuthan Shanmugasundram Mode of pathogenicity for gene: RARB was changed from None to None
09 Jan 2024	Intellectual disability - microarray and sequencing v5.388	RARB	Achchuthan Shanmugasundram Mode of pathogenicity for gene: RARB was changed from None to None
09 Jan 2024	Intellectual disability - microarray and sequencing v5.388	RARB	Achchuthan Shanmugasundram Mode of pathogenicity for gene: RARB was changed from None to None
09 Jan 2024	Intellectual disability - microarray and sequencing v5.387	RARB	Achchuthan Shanmugasundram Mode of pathogenicity for gene: RARB was changed from None to None
09 Jan 2024	Intellectual disability - microarray and sequencing v5.387	RARB	Achchuthan Shanmugasundram Mode of pathogenicity for gene: RARB was changed from Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments to None
09 Jan 2024	Intellectual disability - microarray and sequencing v5.386	RARB	Achchuthan Shanmugasundram Publications for gene: RARB were set to 17506106; 24075189; 25457163; 27120018; 30281527; 30880327
09 Jan 2024	Intellectual disability - microarray and sequencing v5.386	RARB	Achchuthan Shanmugasundram Publications for gene: RARB were set to 17506106; 24075189; 25457163; 27120018; 30281527; 30880327
09 Jan 2024	Intellectual disability - microarray and sequencing v5.386	RARB	Achchuthan Shanmugasundram Publications for gene: RARB were set to 17506106; 24075189; 25457163; 27120018; 30281527; 30880327
09 Jan 2024	Intellectual disability - microarray and sequencing v5.385	RARB	Achchuthan Shanmugasundram Publications for gene: RARB were set to 17506106; 24075189; 25457163; 27120018; 30281527; 30880327
09 Jan 2024	Intellectual disability - microarray and sequencing v5.385	RARB	Achchuthan Shanmugasundram Publications for gene: RARB were set to 24075189
09 Jan 2024	Intellectual disability - microarray and sequencing v5.384	RARB	Achchuthan Shanmugasundram Phenotypes for gene: RARB were changed from Microphthalmia, syndromic 12, OMIM:615524; neurodevelopmental disorder, MONDO:0700092 to Microphthalmia, syndromic 12, OMIM:615524; neurodevelopmental disorder, MONDO:0700092
09 Jan 2024	Intellectual disability - microarray and sequencing v5.384	RARB	Achchuthan Shanmugasundram Phenotypes for gene: RARB were changed from Microphthalmia, syndromic 12, OMIM:615524; neurodevelopmental disorder, MONDO:0700092 to Microphthalmia, syndromic 12, OMIM:615524; neurodevelopmental disorder, MONDO:0700092
09 Jan 2024	Intellectual disability - microarray and sequencing v5.383	RARB	Achchuthan Shanmugasundram Phenotypes for gene: RARB were changed from MICROPHTHALMIA AND DIAPHRAGMATIC HERNIA to Microphthalmia, syndromic 12, OMIM:615524; neurodevelopmental disorder, MONDO:0700092
09 Jan 2024	Intellectual disability - microarray and sequencing v5.382	COX11	Sarah Leigh Classified gene: COX11 as Amber List (moderate evidence)
09 Jan 2024	Intellectual disability - microarray and sequencing v5.382	COX11	Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
09 Jan 2024	Intellectual disability - microarray and sequencing v5.382	COX11	Sarah Leigh Gene: cox11 has been classified as Amber List (Moderate Evidence).
09 Jan 2024	Intellectual disability - microarray and sequencing v5.381	RARB	Achchuthan Shanmugasundram Mode of pathogenicity for gene: RARB 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
09 Jan 2024	Intellectual disability - microarray and sequencing v5.380	COX11	Sarah Leigh commented on gene: COX11: The three unrelated case of Mitochondrial complex IV deficiency, nuclear type 23 (OMIM:620275) so far reported, all had significant cognitive impairment and 2/3 of the cases had hypotonia (PMID: 36030551;38068960).
09 Jan 2024	Intellectual disability - microarray and sequencing v5.380	YARS	Achchuthan Shanmugasundram changed review comment from: As reviewed by Sarah Leigh, none of the previously reported cases presented with intellectual disability, although the family reported in PMID:30304524 had expressive language delay and the older brother reported in PMID:27633801 had mild delays. As reviewed by Dmitrijs Rots, all 12 patients from six families identified with homozygous p.Arg367Trp variant had neurodevelopmental phenotype including intellectual disability. As all these families were identified with the same homozygous variant, the rating should remain amber. However, 'watchlist' tag has been added to review this gene in future with any new evidence.; to: As reviewed by Sarah Leigh, none of the previously reported cases presented with intellectual disability, although the family reported in PMID:30304524 had expressive language delay and the older brother reported in PMID:27633801 had mild delays. As reviewed by Dmitrijs Rots, all 12 patients from six families identified with homozygous p.Arg367Trp variant had neurodevelopmental phenotype including intellectual disability. As all these families were identified with the same homozygous variant, the rating should remain amber.
09 Jan 2024	Intellectual disability - microarray and sequencing v5.380	YARS	Achchuthan Shanmugasundram reviewed gene: YARS: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Infantile-onset multisystem neurologic, endocrine, and pancreatic disease 2, OMIM:619418; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
09 Jan 2024	Intellectual disability - microarray and sequencing v5.380	COX11	Sarah Leigh Entity copied from Mitochondrial disorders v4.142
09 Jan 2024	Intellectual disability - microarray and sequencing v5.380	COX11	Sarah Leigh gene: COX11 was added gene: COX11 was added to Intellectual disability - microarray and sequencing. Sources: NHS GMS,Expert Review Amber Q4_23_promote_green tags were added to gene: COX11. Mode of inheritance for gene: COX11 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COX11 were set to 36030551; 38068960 Phenotypes for gene: COX11 were set to Mitochondrial complex IV deficiency, nuclear type 23, OMIM:620275; Mitochondrial complex IV deficiency, nuclear type 23, MONDO:0859520
08 Jan 2024	Intellectual disability - microarray and sequencing v5.379	CLCN6	Sarah Leigh Added comment: Comment on mode of pathogenicity: PMID 33217309 reports gain of function associated with CLCN6 variants.
08 Jan 2024	Intellectual disability - microarray and sequencing v5.379	CLCN6	Sarah Leigh Mode of pathogenicity for gene: CLCN6 was changed from None to None
08 Jan 2024	Intellectual disability - microarray and sequencing v5.378	CLCN6	Sarah Leigh Classified gene: CLCN6 as Amber List (moderate evidence)
08 Jan 2024	Intellectual disability - microarray and sequencing v5.378	CLCN6	Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
08 Jan 2024	Intellectual disability - microarray and sequencing v5.378	CLCN6	Sarah Leigh Gene: clcn6 has been classified as Amber List (Moderate Evidence).
08 Jan 2024	Intellectual disability - microarray and sequencing v5.377	CLCN6	Sarah Leigh Tag Q4_23_promote_green tag was added to gene: CLCN6.
08 Jan 2024	Intellectual disability - microarray and sequencing v5.377	CLCN6	Sarah Leigh edited their review of gene: CLCN6: Added comment: Review copied from Neuronal ceroid lipofuscinosis panel: PMID 33217309: Three unrelated families reported with recurrent GOF de novo c.1658A>G (p.Tyr553Cys) and severe developmental delay with pronounced generalized hypotonia, respiratory insufficiency, and variable neurodegeneration and diffusion restriction in cerebral peduncles, midbrain, and/or brainstem in MRI scans. Previously, monoallelic variants reported in 3 families with BPEI, but functional data/segregation not compelling. Mouse knockout model has features of NCL (Zornitza Stark (Australian Genomics), 9 Dec 2020).; Changed rating: GREEN; Changed mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
08 Jan 2024	Intellectual disability - microarray and sequencing v5.377	CLCN6	Sarah Leigh gene: CLCN6 was added gene: CLCN6 was added to Intellectual disability - microarray and sequencing. Sources: Other Mode of inheritance for gene: CLCN6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CLCN6 were set to 29667327; 26658788; 25794116; 21107136; 33217309; 16950870 Phenotypes for gene: CLCN6 were set to Neurodegeneration, childhood-onset, hypotonia, respiratory insufficiency and brain imaging abnormalities OMIM:619173 Review for gene: CLCN6 was set to RED Added comment: Sources: Other
07 Jan 2024	Intellectual disability - microarray and sequencing v5.376	TRIT1	Eleanor Williams Phenotypes for gene: TRIT1 were changed from Combined oxidative phosphorylation deficiency 35, OMIM:617873 to Combined oxidative phosphorylation deficiency 35, OMIM:617873; combined oxidative phosphorylation deficiency 35, MONDO:0054742
07 Jan 2024	Intellectual disability - microarray and sequencing v5.375	ASL	Eleanor Williams Phenotypes for gene: ASL were changed from Argininosuccinic aciduria 207900 to Argininosuccinic aciduria, OMIM:207900; argininosuccinic aciduria, MONDO:0008815
05 Jan 2024	Intellectual disability - microarray and sequencing v5.374	COG3	Achchuthan Shanmugasundram changed review comment from: Comment on list classification: As reviewed by Zornitza Stark, there are two unrelated cases reported with biallelic COG3 variants and hence this gene should be rated amber with current evidence.; to: Comment on list classification: As reviewed by Zornitza Stark, there are two unrelated families reported with biallelic COG3 variants and hence this gene should be rated amber with current evidence.
05 Jan 2024	Intellectual disability - microarray and sequencing v5.374	COG3	Achchuthan Shanmugasundram Entity copied from Congenital disorders of glycosylation v4.16
05 Jan 2024	Intellectual disability - microarray and sequencing v5.374	COG3	Achchuthan Shanmugasundram gene: COG3 was added gene: COG3 was added to Intellectual disability - microarray and sequencing. Sources: Literature,Expert Review Amber Mode of inheritance for gene: COG3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COG3 were set to 37711075 Phenotypes for gene: COG3 were set to Congenital disorder of glycosylation, type IIbb, OMIM:620546
05 Jan 2024	Intellectual disability - microarray and sequencing v5.373	SGSM3	Achchuthan Shanmugasundram changed review comment from: Comment on list classification: As reviewed by Zornitza Stark, there are eight families reported with the same variant from the same Ashkenazi Jewish ancestry and the variant co-segregated with the disease in all family members. The 'founder-effect' tag has been added as 1 in 52 Ashkenazi Jews carry the variant.; to: Comment on list classification: As reviewed by Zornitza Stark, there are eight families reported with the same variant from the same Ashkenazi Jewish ancestry and the variant co-segregated with the disease in all family members. This gene should therefore be rated amber with the current evidence. The 'founder-effect' tag has been added as 1 in 52 Ashkenazi Jews carry the variant.
05 Jan 2024	Intellectual disability - microarray and sequencing v5.373	SGSM3	Achchuthan Shanmugasundram Deleted their comment
05 Jan 2024	Intellectual disability - microarray and sequencing v5.373	SGSM3	Achchuthan Shanmugasundram Classified gene: SGSM3 as Amber List (moderate evidence)
05 Jan 2024	Intellectual disability - microarray and sequencing v5.373	SGSM3	Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Zornitza Stark, there are eight families reported with the same variant from the same Ashkenazi Jewish ancestry and the variant co-segregated with the disease in all family members. The 'founder-effect' tag has been added as 1 in 52 Ashkenazi Jews carry the variant.
05 Jan 2024	Intellectual disability - microarray and sequencing v5.373	SGSM3	Achchuthan Shanmugasundram Gene: sgsm3 has been classified as Amber List (Moderate Evidence).
05 Jan 2024	Intellectual disability - microarray and sequencing v5.373	SGSM3	Achchuthan Shanmugasundram Classified gene: SGSM3 as No list
05 Jan 2024	Intellectual disability - microarray and sequencing v5.373	SGSM3	Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Zornitza Stark, there are eight families reported with the same variant from the same Ashkenazi Jewish ancestry and the variant co-segregated with the disease in all family members. The 'founder-effect' tag has been added as 1 in 52 Ashkenazi Jews carry the variant.
05 Jan 2024	Intellectual disability - microarray and sequencing v5.373	SGSM3	Achchuthan Shanmugasundram Gene: sgsm3 has been removed from the panel.
05 Jan 2024	Intellectual disability - microarray and sequencing v5.372	SGSM3	Achchuthan Shanmugasundram Tag founder-effect tag was added to gene: SGSM3.
05 Jan 2024	Intellectual disability - microarray and sequencing v5.372	SGSM3	Achchuthan Shanmugasundram Phenotypes for gene: SGSM3 were changed from Neurodevelopmental disorder (MONDO:0700092), SGSM3-related to neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071
05 Jan 2024	Intellectual disability - microarray and sequencing v5.371	SGSM3	Achchuthan Shanmugasundram reviewed gene: SGSM3: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: neurodevelopmental disorder, MONDO:0700092, intellectual disability, MONDO:0001071; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
04 Jan 2024	Intellectual disability - microarray and sequencing v5.371	SHQ1	Sarah Leigh Entity copied from Childhood onset dystonia, chorea or related movement disorder v3.61
04 Jan 2024	Intellectual disability - microarray and sequencing v5.371	SHQ1	Sarah Leigh gene: SHQ1 was added gene: SHQ1 was added to Intellectual disability - microarray and sequencing. Sources: Literature,Expert Review Amber Q4_23_promote_green tags were added to gene: SHQ1. Mode of inheritance for gene: SHQ1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SHQ1 were set to 34542157; 29178645; 36810590; 36847845; 36416405; 37475611; 36189577 Phenotypes for gene: SHQ1 were set to ?Dystonia 35, childhood-onset, OMIM:619921; dystonia 35, childhood-onset, MONDO:0030958; Neurodevelopmental disorder with dystonia and seizures, OMIM:619922; neurodevelopmental disorder with dystonia and seizures, MONDO:0859258
04 Jan 2024	Intellectual disability - microarray and sequencing v5.370	FBXW11	Sarah Leigh Phenotypes for gene: FBXW11 were changed from Global developmental delay; Intellectual disability; Abnormality of the eye; Abnormality of the head; Abnormality of digit; Neurodevelopmental, jaw, eye, and digital syndrome MIM#618914 to Neurodevelopmental, jaw, eye, and digital syndrome, OMIM:618914; neurodevelopmental, jaw, eye, and digital syndrome, MONDO:003005
04 Jan 2024	Intellectual disability - microarray and sequencing v5.369	TRPC5	Sarah Leigh changed review comment from: To date, TRPC5 variants have not been associated with a phenotype in OMIM, however, Gen2Phen lists TRPC5 as having an Limited association with the phenotype of TRPC5-related neurodevelopmental disorder. Six TRPC5 have been reported to be associated with a neurodevelopmental disorder, which has a range of phenotypic features, including intellectual disability and autism spectrum disorder (PMIDs: 36323681;33504798;28191890;23033978).; to: To date, TRPC5 variants have not been associated with a phenotype in OMIM, however, Gen2Phen lists TRPC5 as having an Limited association with the phenotype of TRPC5-related neurodevelopmental disorder. Six TRPC5 variants have been reported to be associated with a neurodevelopmental disorder, which has a range of phenotypic features, including intellectual disability and autism spectrum disorder (PMIDs: 36323681;33504798;28191890;23033978).
04 Jan 2024	Intellectual disability - microarray and sequencing v5.369	TRPC5	Sarah Leigh Classified gene: TRPC5 as Amber List (moderate evidence)
04 Jan 2024	Intellectual disability - microarray and sequencing v5.369	TRPC5	Sarah Leigh Added comment: Comment on list classification: This gene is rated amber, despite six published variants being reported in unrelated cases with a neurodevelopmental disorder, this is because it is unclear in the publications, how many of these cases actually have intellectual disability.
04 Jan 2024	Intellectual disability - microarray and sequencing v5.369	TRPC5	Sarah Leigh Gene: trpc5 has been classified as Amber List (Moderate Evidence).
04 Jan 2024	Intellectual disability - microarray and sequencing v5.368	TRPC5	Sarah Leigh commented on gene: TRPC5: To date, TRPC5 variants have not been associated with a phenotype in OMIM, however, Gen2Phen lists TRPC5 as having an Limited association with the phenotype of TRPC5-related neurodevelopmental disorder. Six TRPC5 have been reported to be associated with a neurodevelopmental disorder, which has a range of phenotypic features, including intellectual disability and autism spectrum disorder (PMIDs: 36323681;33504798;28191890;23033978).
04 Jan 2024	Intellectual disability - microarray and sequencing v5.368	TRPC5	Sarah Leigh Classified gene: TRPC5 as Amber List (moderate evidence)
04 Jan 2024	Intellectual disability - microarray and sequencing v5.368	TRPC5	Sarah Leigh Gene: trpc5 has been classified as Amber List (Moderate Evidence).
04 Jan 2024	Intellectual disability - microarray and sequencing v5.367	AGPAT3	Achchuthan Shanmugasundram Classified gene: AGPAT3 as Amber List (moderate evidence)
04 Jan 2024	Intellectual disability - microarray and sequencing v5.367	AGPAT3	Achchuthan Shanmugasundram Gene: agpat3 has been classified as Amber List (Moderate Evidence).
04 Jan 2024	Intellectual disability - microarray and sequencing v5.366	AGPAT3	Achchuthan Shanmugasundram Classified gene: AGPAT3 as Amber List (moderate evidence)
04 Jan 2024	Intellectual disability - microarray and sequencing v5.366	AGPAT3	Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Zornitza Stark, only one family was reported so far with AGPAT3 biallelic variants and intellectual disability. In addition, functional evidence is also available, Hence, this gene should be rated amber.
04 Jan 2024	Intellectual disability - microarray and sequencing v5.366	AGPAT3	Achchuthan Shanmugasundram Gene: agpat3 has been classified as Amber List (Moderate Evidence).
04 Jan 2024	Intellectual disability - microarray and sequencing v5.365	AGPAT3	Achchuthan Shanmugasundram Phenotypes for gene: AGPAT3 were changed from neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071 to neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071
04 Jan 2024	Intellectual disability - microarray and sequencing v5.365	AGPAT3	Achchuthan Shanmugasundram Phenotypes for gene: AGPAT3 were changed from neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071 to neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071
04 Jan 2024	Intellectual disability - microarray and sequencing v5.365	AGPAT3	Achchuthan Shanmugasundram Phenotypes for gene: AGPAT3 were changed from neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071 to neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071
04 Jan 2024	Intellectual disability - microarray and sequencing v5.364	AGPAT3	Achchuthan Shanmugasundram Phenotypes for gene: AGPAT3 were changed from Neurodevelopmental disorder (MONDO#0700092), AGPAT3-related to neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071
04 Jan 2024	Intellectual disability - microarray and sequencing v5.363	AGPAT3	Achchuthan Shanmugasundram edited their review of gene: AGPAT3: Changed phenotypes to: neurodevelopmental disorder, MONDO:0700092, intellectual disability, MONDO:0001071
04 Jan 2024	Intellectual disability - microarray and sequencing v5.363	AGPAT3	Achchuthan Shanmugasundram reviewed gene: AGPAT3: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
03 Jan 2024	Intellectual disability - microarray and sequencing v5.363	SLC12A6	Arina Puzriakova Phenotypes for gene: SLC12A6 were changed from Agenesis of the corpus callosum with peripheral neuropathy, 218000 -3; AGENESIS OF THE CORPUS CALLOSUM WITH PERIPHERAL NEUROPATHY (ACCPN) to Agenesis of the corpus callosum with peripheral neuropathy, OMIM:218000
03 Jan 2024	Intellectual disability - microarray and sequencing v5.362	C20orf24	Arina Puzriakova commented on gene: C20orf24: Added new-gene-name tag, new approved HGNC gene symbol for C20orf24 is RAB5IF
03 Jan 2024	Intellectual disability - microarray and sequencing v5.362	C20orf24	Arina Puzriakova Classified gene: C20orf24 as Red List (low evidence)
03 Jan 2024	Intellectual disability - microarray and sequencing v5.362	C20orf24	Arina Puzriakova Added comment: Comment on list classification: New gene added by Hannah Knight. Biallelic LoF variant identified in a patient with craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome. Authors suggested possible low penetrance due to two relatives with heterozygous variant and cleft lip and/or palate (PMID: 35614220). Rating Red as only a single family reported to date. In OMIM the relationship between the phenotype and gene is provisional.
03 Jan 2024	Intellectual disability - microarray and sequencing v5.362	C20orf24	Arina Puzriakova Gene: c20orf24 has been classified as Red List (Low Evidence).
03 Jan 2024	Intellectual disability - microarray and sequencing v5.361	C20orf24	Arina Puzriakova Phenotypes for gene: C20orf24 were changed from ?Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 2 to ?Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 2, OMIM:616994
03 Jan 2024	Intellectual disability - microarray and sequencing v5.360	C20orf24	Arina Puzriakova Tag new-gene-name tag was added to gene: C20orf24.
02 Jan 2024	Intellectual disability - microarray and sequencing v5.360	MTF1	Sarah Leigh changed review comment from: Comment on publications: PMID: 23033978 reports MTF1: NM_005955.2 c.333del p.(Thr112Hisfs26) as a de novo variant in a patient with severe ID, who also carries a maternally inherited TRPC5 NM_012471.2 c.1999C>A p.(Pro667Thr) variant (tables S3 & S10).; to: Comment on publications: PMID: 23033978 reports MTF1: NM_005955.2 c.333del p.(Thr112Hisfs26) as a de novo variant in a patient with severe ID, who also carries a maternally inherited TRPC5 NM_012471.2 c.1999C>A p.(Pro667Thr) variant (tables S3, S9 & S10).
02 Jan 2024	Intellectual disability - microarray and sequencing v5.360	TRPC5	Sarah Leigh Added comment: Comment on publications: PMID: 23033978 reports MTF1: NM_005955.2 c.333del p.(Thr112Hisfs*26) as a de novo variant in a patient with severe ID, who also carries a maternally inherited TRPC5 NM_012471.2 c.1999C>A p.(Pro667Thr) variant (tables S3, S9 & S10).
02 Jan 2024	Intellectual disability - microarray and sequencing v5.360	TRPC5	Sarah Leigh Publications for gene: TRPC5 were set to 36323681
02 Jan 2024	Intellectual disability - microarray and sequencing v5.359	MTF1	Sarah Leigh Added comment: Comment on publications: PMID: 23033978 reports MTF1: NM_005955.2 c.333del p.(Thr112Hisfs*26) as a de novo variant in a patient with severe ID, who also carries a maternally inherited TRPC5 NM_012471.2 c.1999C>A p.(Pro667Thr) variant (tables S3 & S10).
02 Jan 2024	Intellectual disability - microarray and sequencing v5.359	MTF1	Sarah Leigh Publications for gene: MTF1 were set to 26350204; 28901405; 18341605; 23033978
02 Jan 2024	Intellectual disability - microarray and sequencing v5.358	MTF1	Sarah Leigh Publications for gene: MTF1 were set to 26350204; 28901405; 18341605
02 Jan 2024	Intellectual disability - microarray and sequencing v5.357	TRPC5	Sarah Leigh Entity copied from DDG2P v3.79
02 Jan 2024	Intellectual disability - microarray and sequencing v5.357	TRPC5	Sarah Leigh gene: TRPC5 was added gene: TRPC5 was added to Intellectual disability - microarray and sequencing. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: TRPC5 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: TRPC5 were set to 36323681 Phenotypes for gene: TRPC5 were set to TRPC5-related neurodevelopmental disorder
02 Jan 2024	Intellectual disability - microarray and sequencing v5.356	CDK16	Sarah Leigh Classified gene: CDK16 as Amber List (moderate evidence)
02 Jan 2024	Intellectual disability - microarray and sequencing v5.356	CDK16	Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
02 Jan 2024	Intellectual disability - microarray and sequencing v5.356	CDK16	Sarah Leigh Gene: cdk16 has been classified as Amber List (Moderate Evidence).
02 Jan 2024	Intellectual disability - microarray and sequencing v5.355	CDK16	Sarah Leigh Tag Q4_23_promote_green tag was added to gene: CDK16. Tag Q4_23_NHS_review tag was added to gene: CDK16.
02 Jan 2024	Intellectual disability - microarray and sequencing v5.355	CDK16	Sarah Leigh Added comment: Comment on phenotypes: Intellectual disability, MONDO:0001071 is the phenotype listed for CDK16 in Gene2Phen (2nd January 2024)
02 Jan 2024	Intellectual disability - microarray and sequencing v5.355	CDK16	Sarah Leigh Phenotypes for gene: CDK16 were changed from to Intellectual disability, MONDO:0001071
02 Jan 2024	Intellectual disability - microarray and sequencing v5.354	CDK16	Sarah Leigh edited their review of gene: CDK16: Added comment: To date, CDK16 variants have not been associated with a phenotype in OMIM, but have a limited association with intellectual disability (ID) in Gen2Phen. Four CDK16 variants have been associated with a spectrum of phenotypic features, including ID (n= 3), autism spectrum disorder (n= 3), seizures (n= 2) and spacity (n= 2)(PMID:36323681, 31981491, 25644381).; Changed rating: GREEN
02 Jan 2024	Intellectual disability - microarray and sequencing v5.354	CDK16	Sarah Leigh Publications for gene: CDK16 were set to 26350204; 25644381
02 Jan 2024	Intellectual disability - microarray and sequencing v5.353	ACACA	Sarah Leigh Tag Q4_23_NHS_review was removed from gene: ACACA.
02 Jan 2024	Intellectual disability - microarray and sequencing v5.353	ACACA	Sarah Leigh Entity copied from Likely inborn error of metabolism - targeted testing not possible v4.83
02 Jan 2024	Intellectual disability - microarray and sequencing v5.353	ACACA	Sarah Leigh gene: ACACA was added gene: ACACA was added to Intellectual disability - microarray and sequencing. Sources: Expert Review Amber,Literature Q4_23_promote_green, Q4_23_NHS_review tags were added to gene: ACACA. Mode of inheritance for gene: ACACA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ACACA were set to 6114432; 34552920; 36709796 Phenotypes for gene: ACACA were set to Acetyl-CoA carboxylase deficiency, OMIM: 613933
27 Dec 2023	Intellectual disability - microarray and sequencing v5.352	DLG2	Achchuthan Shanmugasundram Tag epigenetics was removed from gene: DLG2.
27 Dec 2023	Intellectual disability - microarray and sequencing v5.352	DIP2B	Achchuthan Shanmugasundram Tag epigenetics was removed from gene: DIP2B.
27 Dec 2023	Intellectual disability - microarray and sequencing v5.352	GABRQ	Achchuthan Shanmugasundram Phenotypes for gene: GABRQ were changed from ASD; schizophrenia; migraine to autism spectrum disorder, MONDO:0005258; schizophrenia, MONDO:0005090; migraine disorder, MONDO:0005277
27 Dec 2023	Intellectual disability - microarray and sequencing v5.351	GABRQ	Achchuthan Shanmugasundram Tag Schizophrenia was removed from gene: GABRQ.
27 Dec 2023	Intellectual disability - microarray and sequencing v5.351	FAR1	Achchuthan Shanmugasundram Tag Q2_21_expert_review was removed from gene: FAR1. Tag Q2_21_MOI was removed from gene: FAR1.
19 Dec 2023	Intellectual disability - microarray and sequencing v5.351	MYH10	Achchuthan Shanmugasundram Classified gene: MYH10 as Amber List (moderate evidence)
19 Dec 2023	Intellectual disability - microarray and sequencing v5.351	MYH10	Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available for the promotion of this gene to green rating in the next GMS update.
19 Dec 2023	Intellectual disability - microarray and sequencing v5.351	MYH10	Achchuthan Shanmugasundram Gene: myh10 has been classified as Amber List (Moderate Evidence).
19 Dec 2023	Intellectual disability - microarray and sequencing v5.350	MYH10	Achchuthan Shanmugasundram Tag Q4_23_promote_green tag was added to gene: MYH10.
19 Dec 2023	Intellectual disability - microarray and sequencing v5.350	MYH10	Achchuthan Shanmugasundram Phenotypes for gene: MYH10 were changed from Neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071; MYH10-related Multiple congenital anomalies to Neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071; MYH10-related Multiple congenital anomalies
19 Dec 2023	Intellectual disability - microarray and sequencing v5.350	MYH10	Achchuthan Shanmugasundram Phenotypes for gene: MYH10 were changed from MYH10-related Multiple congenital anomalies, Intellectual disability to Neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071; MYH10-related Multiple congenital anomalies
19 Dec 2023	Intellectual disability - microarray and sequencing v5.349	MYH10	Achchuthan Shanmugasundram Publications for gene: MYH10 were set to 25356899; 25003005
19 Dec 2023	Intellectual disability - microarray and sequencing v5.348	MYH10	Achchuthan Shanmugasundram Mode of inheritance for gene: MYH10 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
19 Dec 2023	Intellectual disability - microarray and sequencing v5.347	MYH10	Achchuthan Shanmugasundram reviewed gene: MYH10: Rating: GREEN; Mode of pathogenicity: None; Publications: 35980381; Phenotypes: Neurodevelopmental disorder, MONDO:0700092, intellectual disability, MONDO:0001071; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
14 Dec 2023	Intellectual disability - microarray and sequencing v5.347	PSMC3	Achchuthan Shanmugasundram changed review comment from: Comment on list classification: There is sufficient evidence available for the association of monoallelic variants in this gene with hearing loss and hence this gene can be promoted to green rating in the next GMS review.; to: Comment on list classification: This gene can be promoted to green rating in the next GMS review.
14 Dec 2023	Intellectual disability - microarray and sequencing v5.347	PSMC3	Achchuthan Shanmugasundram changed review comment from: Comment on mode of inheritance: There is sufficient evidence for the association of monoallelic variants from this gene with intellectual disability. However, there is only one family reported with biallelic variants. Hence, the MOI is set as "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted".; to: Comment on mode of inheritance: There is sufficient evidence available for the association of monoallelic variants from this gene with intellectual disability. However, there is only one family reported with biallelic variants. Hence, the MOI is set as "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted".
14 Dec 2023	Intellectual disability - microarray and sequencing v5.347	PSMC3	Achchuthan Shanmugasundram changed review comment from: Comment on list classification: There is sufficient evidence available for the association of monoallelic variants in this gene with hearing loss and hence this gene can be promoted to green rating in the next GMS review.; to: Comment on list classification: There is sufficient evidence available for the association of monoallelic variants in this gene with hearing loss and hence this gene can be promoted to green rating in the next GMS review.
14 Dec 2023	Intellectual disability - microarray and sequencing v5.347	PSMC3	Achchuthan Shanmugasundram changed review comment from: Comment on list classification: This gene can be promoted to green rating at the next GMS review.; to: Comment on list classification: There is sufficient evidence available for the association of monoallelic variants in this gene with hearing loss and hence this gene can be promoted to green rating in the next GMS review.
14 Dec 2023	Intellectual disability - microarray and sequencing v5.347	PSMC3	Achchuthan Shanmugasundram changed review comment from: PMID:32500975 - Three individuals from a single extended consanguineous Turkish pedigree was reported with early-onset and rapidly progressive deafness, early-onset cataract, severe developmental delay, severely impaired intellectual development, subcutaneous calcifications and peripheral neuropathy. There were identified with homozygous variant in PSMC3 gene (c.1127 + 337A>G). Functional studies in patient fibroblast cells suggested that the patient PSMC3 variant is responsible for proteasome failure affecting protein homeostasis under stress conditions. This is also supported by evidence from zebrafish models, where PSMC3 knockout has reproduced the human phenotype with inner ear development anomalies as well as cataracts. PMID:37256937 - 23 individuals with neurodevelopmental disorder were identified with 15 different de novo missense variants. Apart from one child (patient 2), all others had developmental delay characterised by speech delay (19/19) alone or with intellectual disability (16/18) and motor delay (15/19). In addition, structural modeling as well as proteomic and transcriptomic analyses of T cells derived from patients with PSMC3 variants implicated the PSMC3 variants in proteasome dysfunction through disruption of substrate translocation, induction of proteotoxic stress, and alterations in proteins controlling developmental and innate immune program. The phenotype caused by recessive PSMC3 variants has been reported in OMIM (MIM #619354), but not in Gene2Phenotype. However, the phenotype caused by dominant variants has not yet been reported in either resources.; to: PMID:32500975 - Three individuals from a single extended consanguineous Turkish pedigree was reported with early-onset and rapidly progressive deafness, early-onset cataract, severe developmental delay, severely impaired intellectual development, subcutaneous calcifications and peripheral neuropathy. They were identified with homozygous variant in PSMC3 gene (c.1127 + 337A>G). Functional studies in patient fibroblast cells suggested that the patient PSMC3 variant is responsible for proteasome failure affecting protein homeostasis under stress conditions. This is also supported by evidence from zebrafish models, where PSMC3 knockout has reproduced the human phenotype with inner ear development anomalies as well as cataracts. PMID:37256937 - 23 individuals with neurodevelopmental disorder were identified with 15 different de novo missense variants. Apart from one child (patient 2), all others had developmental delay characterised by speech delay (19/19) alone or with intellectual disability (16/18) and motor delay (15/19). In addition, structural modeling as well as proteomic and transcriptomic analyses of T cells derived from patients with PSMC3 variants implicated the PSMC3 variants in proteasome dysfunction through disruption of substrate translocation, induction of proteotoxic stress, and alterations in proteins controlling developmental and innate immune program. The phenotype caused by recessive PSMC3 variants has been reported in OMIM (MIM #619354), but not in Gene2Phenotype. However, the phenotype caused by dominant variants has not yet been reported in either resources.
14 Dec 2023	Intellectual disability - microarray and sequencing v5.347	PSMC3	Achchuthan Shanmugasundram changed review comment from: PMID:32500975 - Three individuals from a single extended consanguineous Turkish pedigree was reported with early-onset and rapidly progressive deafness, early-onset cataract, severe developmental delay, severely impaired intellectual development, subcutaneous calcifications and peripheral neuropathy. There were identified with homozygous variant in PSMC3 gene (c.1127 + 337A>G). Functional studies in patient fibroblast cells suggested that the patient PSMC3 variant is responsible for proteasome failure affecting protein homeostasis under stress conditions. This is also supported by evidence from zebrafish models, where PSMC3 knockout has reproduced the human phenotype with inner ear development anomalies as well as cataracts. PMID:37256937 - 23 individuals with neurodevelopmental disorder was identified with 15 different de novo missense variants. Apart from one child (patient 2), all others had developmental delay characterised by speech delay (19/19) alone or with intellectual disability (16/18) and motor delay (15/19). In addition, structural modeling as well as proteomic and transcriptomic analyses of T cells derived from patients with PSMC3 variants implicated the PSMC3 variants in proteasome dysfunction through disruption of substrate translocation, induction of proteotoxic stress, and alterations in proteins controlling developmental and innate immune program. The phenotype caused by recessive PSMC3 variants has been reported in OMIM (MIM #619354), but not in Gene2Phenotype. However, the phenotype caused by dominant variants has not yet been reported in either resources.; to: PMID:32500975 - Three individuals from a single extended consanguineous Turkish pedigree was reported with early-onset and rapidly progressive deafness, early-onset cataract, severe developmental delay, severely impaired intellectual development, subcutaneous calcifications and peripheral neuropathy. There were identified with homozygous variant in PSMC3 gene (c.1127 + 337A>G). Functional studies in patient fibroblast cells suggested that the patient PSMC3 variant is responsible for proteasome failure affecting protein homeostasis under stress conditions. This is also supported by evidence from zebrafish models, where PSMC3 knockout has reproduced the human phenotype with inner ear development anomalies as well as cataracts. PMID:37256937 - 23 individuals with neurodevelopmental disorder were identified with 15 different de novo missense variants. Apart from one child (patient 2), all others had developmental delay characterised by speech delay (19/19) alone or with intellectual disability (16/18) and motor delay (15/19). In addition, structural modeling as well as proteomic and transcriptomic analyses of T cells derived from patients with PSMC3 variants implicated the PSMC3 variants in proteasome dysfunction through disruption of substrate translocation, induction of proteotoxic stress, and alterations in proteins controlling developmental and innate immune program. The phenotype caused by recessive PSMC3 variants has been reported in OMIM (MIM #619354), but not in Gene2Phenotype. However, the phenotype caused by dominant variants has not yet been reported in either resources.
11 Dec 2023	Intellectual disability - microarray and sequencing v5.347	TEFM	Achchuthan Shanmugasundram Classified gene: TEFM as Amber List (moderate evidence)
11 Dec 2023	Intellectual disability - microarray and sequencing v5.347	TEFM	Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available for the promotion of this gene to green rating in the next GMS review.
11 Dec 2023	Intellectual disability - microarray and sequencing v5.347	TEFM	Achchuthan Shanmugasundram Gene: tefm has been classified as Amber List (Moderate Evidence).
11 Dec 2023	Intellectual disability - microarray and sequencing v5.346	TEFM	Achchuthan Shanmugasundram Tag Q4_23_promote_green tag was added to gene: TEFM.
11 Dec 2023	Intellectual disability - microarray and sequencing v5.346	TEFM	Achchuthan Shanmugasundram reviewed gene: TEFM: Rating: GREEN; Mode of pathogenicity: None; Publications: 36823193; Phenotypes: Combined oxidative phosphorylation deficiency 58, OMIM:620451; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
11 Dec 2023	Intellectual disability - microarray and sequencing v5.346	TEFM	Achchuthan Shanmugasundram Entity copied from Mitochondrial disorders v4.116
11 Dec 2023	Intellectual disability - microarray and sequencing v5.346	TEFM	Achchuthan Shanmugasundram gene: TEFM was added gene: TEFM was added to Intellectual disability - microarray and sequencing. Sources: Literature Mode of inheritance for gene: TEFM was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TEFM were set to 36823193 Phenotypes for gene: TEFM were set to Combined oxidative phosphorylation deficiency 58, OMIM:620451
08 Dec 2023	Intellectual disability - microarray and sequencing v5.345	KMT2B	Arina Puzriakova Tag Q3_23_promote_green was removed from gene: KMT2B. Tag Q4_23_promote_green tag was added to gene: KMT2B.
05 Dec 2023	Intellectual disability - microarray and sequencing v5.345	KMT2B	Arina Puzriakova Classified gene: KMT2B as Amber List (moderate evidence)
05 Dec 2023	Intellectual disability - microarray and sequencing v5.345	KMT2B	Arina Puzriakova Added comment: Comment on list classification: There is sufficient evidence to promote this gene to Green at the next GMS panel update. Inclusion on this panel would also ensure this gene is included on the Paediatric disorders super panel which is appropriate for the phenotype.
05 Dec 2023	Intellectual disability - microarray and sequencing v5.345	KMT2B	Arina Puzriakova Gene: kmt2b has been classified as Amber List (Moderate Evidence).
05 Dec 2023	Intellectual disability - microarray and sequencing v5.344	KMT2B	Arina Puzriakova Phenotypes for gene: KMT2B were changed from Dystonia 28, childhood-onset, 617284 to Dystonia 28, childhood-onset, OMIM:617284; Intellectual developmental disorder, autosomal dominant 68, OMIM:619934
05 Dec 2023	Intellectual disability - microarray and sequencing v5.343	KMT2B	Arina Puzriakova Publications for gene: KMT2B were set to 25529582; 27839873; 27992417; 29276005; 25405613; 29289525; 29697234; 31216378
05 Dec 2023	Intellectual disability - microarray and sequencing v5.342	KMT2B	Arina Puzriakova Tag watchlist was removed from gene: KMT2B. Tag Q3_23_promote_green tag was added to gene: KMT2B.
05 Dec 2023	Intellectual disability - microarray and sequencing v5.342	KMT2B	Arina Puzriakova reviewed gene: KMT2B: Rating: ; Mode of pathogenicity: None; Publications: 33150406; Phenotypes: ; Mode of inheritance: None
05 Dec 2023	Intellectual disability - microarray and sequencing v5.342	NSD2	Sarah Leigh Phenotypes for gene: NSD2 were changed from Intrauterine growth retardation; Growth delay; Microcephaly; Muscular hypotonia; Neurodevelopmental delay; Intellectual disability; No OMIM number to Rauch-Steindl syndrome, OMIM:619695; Rauch-Steindl syndrome, MONDO:0859219
05 Dec 2023	Intellectual disability - microarray and sequencing v5.341	C20orf24	Hannah Knight gene: C20orf24 was added gene: C20orf24 was added to Intellectual disability - microarray and sequencing. Sources: Literature Mode of inheritance for gene: C20orf24 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: C20orf24 were set to 35614220 Phenotypes for gene: C20orf24 were set to ?Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 2 Added comment: HGNC Approved Gene Symbol: RAB5IF PMID: 35614220 (2022) identified a homozygous nonsense variant (p.W25X) in a Turkish boy previously reported by PMID: 24194475 to have bilateral cleft lip, complete cleft palate, moderate to severe intellectual delay and dysmorphic features. FHx of cleft lip/cleft palate as well in relatives who were heterozygous for the reported variant Sources: Literature
28 Nov 2023	Intellectual disability - microarray and sequencing v5.341	CASP2	Achchuthan Shanmugasundram Deleted their comment
28 Nov 2023	Intellectual disability - microarray and sequencing v5.341	CASP2	Achchuthan Shanmugasundram Deleted their comment
28 Nov 2023	Intellectual disability - microarray and sequencing v5.341	CASP2	Achchuthan Shanmugasundram Classified gene: CASP2 as Amber List (moderate evidence)
28 Nov 2023	Intellectual disability - microarray and sequencing v5.341	CASP2	Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Dmitrijs Rots, there are at least three unrelated families reported with biallelic CASP2 variants and intellectual disability/ global developmental delay. Hence, this gene can be promoted to green rating in the next GMS review.
28 Nov 2023	Intellectual disability - microarray and sequencing v5.341	CASP2	Achchuthan Shanmugasundram Gene: casp2 has been classified as Amber List (Moderate Evidence).
28 Nov 2023	Intellectual disability - microarray and sequencing v5.341	CASP2	Achchuthan Shanmugasundram Classified gene: CASP2 as Amber List (moderate evidence)
28 Nov 2023	Intellectual disability - microarray and sequencing v5.341	CASP2	Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Dmitrijs Rots, there are at least three unrelated families reported with biallelic CASP2 variants and intellectual disability/ global developmental delay. Hence, this gene can be promoted to green rating in the next GMS review.
28 Nov 2023	Intellectual disability - microarray and sequencing v5.341	CASP2	Achchuthan Shanmugasundram Gene: casp2 has been classified as Amber List (Moderate Evidence).
28 Nov 2023	Intellectual disability - microarray and sequencing v5.341	CASP2	Achchuthan Shanmugasundram Classified gene: CASP2 as Amber List (moderate evidence)
28 Nov 2023	Intellectual disability - microarray and sequencing v5.341	CASP2	Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Dmitrijs Rots, there are at least three unrelated families reported with biallelic CASP2 variants and intellectual disability/ global developmental delay. Hence, this gene can be promoted to green rating in the next GMS review.
28 Nov 2023	Intellectual disability - microarray and sequencing v5.341	CASP2	Achchuthan Shanmugasundram Gene: casp2 has been classified as Amber List (Moderate Evidence).
28 Nov 2023	Intellectual disability - microarray and sequencing v5.340	CASP2	Achchuthan Shanmugasundram Phenotypes for gene: CASP2 were changed from neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071 to neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071
28 Nov 2023	Intellectual disability - microarray and sequencing v5.340	CASP2	Achchuthan Shanmugasundram Phenotypes for gene: CASP2 were changed from Autosomal recessive mental retardation to neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071
28 Nov 2023	Intellectual disability - microarray and sequencing v5.339	CASP2	Achchuthan Shanmugasundram Publications for gene: CASP2 were set to 26350204; 24896178; 21937992
28 Nov 2023	Intellectual disability - microarray and sequencing v5.338	CASP2	Achchuthan Shanmugasundram Tag Q4_23_promote_green tag was added to gene: CASP2.
28 Nov 2023	Intellectual disability - microarray and sequencing v5.338	CASP2	Achchuthan Shanmugasundram reviewed gene: CASP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 37880421; Phenotypes: neurodevelopmental disorder, MONDO:0700092, intellectual disability, MONDO:0001071; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
23 Nov 2023	Intellectual disability - microarray and sequencing v5.338	ZBTB47	Sarah Leigh commented on gene: ZBTB47: The opinion of Helen Brittain (Genomics England, Clinical Fellow), was that ZBTB47 should be green on the Intellectual disability and Early onset or syndromic epilepsy panels.
23 Nov 2023	Intellectual disability - microarray and sequencing v5.338	ZBTB47	Sarah Leigh edited their review of gene: ZBTB47: Added comment: ZBTB47 variants have not been associated with a phenotype in OMIM, Gen2Phen or MONDO. PMID: 37743782 reports five unrelated patients with de novo missense variants in ZBTB47 (c.2039A>G, p.(Glu680Gly) in one patient and c.1429G>A, p.(Glu477Lys) in four others), with a phenotype that included developmental delay, intellectual disability, seizures, hypotonia, gait abnormalities, and variable movement abnormalities.; Changed rating: GREEN
23 Nov 2023	Intellectual disability - microarray and sequencing v5.338	ZBTB47	Sarah Leigh Phenotypes for gene: ZBTB47 were changed from Neurodevelopmental disorder (MONDO#0700092), ZBTB47-related to Neurodevelopmental disorder, MONDO; 0700092
23 Nov 2023	Intellectual disability - microarray and sequencing v5.337	ZBTB47	Sarah Leigh Tag Q4_23_promote_green tag was added to gene: ZBTB47.
19 Nov 2023	Intellectual disability - microarray and sequencing v5.337	CASP2	Dmitrijs Rots reviewed gene: CASP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 37880421; Phenotypes: neurodevelopmental disorder with lissencephaly; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
10 Nov 2023	Intellectual disability - microarray and sequencing v5.337	CLEC16A	Dmitrijs Rots gene: CLEC16A was added gene: CLEC16A was added to Intellectual disability - microarray and sequencing. Sources: Literature Mode of inheritance for gene: CLEC16A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CLEC16A were set to PMID: 36538041 Phenotypes for gene: CLEC16A were set to severe neurodevelopmental disorder including microcephaly, brain atrophy, corpus callosum dysgenesis, and growth retardation Penetrance for gene: CLEC16A were set to Complete Review for gene: CLEC16A was set to GREEN Added comment: Two independent cases reported PMID: 36538041with biallelic variants and functional evidence. Sufficient for the green rating. Sources: Literature
10 Nov 2023	Intellectual disability - microarray and sequencing v5.337	VCP	Achchuthan Shanmugasundram Phenotypes for gene: VCP were changed from Neurodevelopmental disorder (MONDO: 0700092) to neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071
10 Nov 2023	Intellectual disability - microarray and sequencing v5.336	VCP	Achchuthan Shanmugasundram edited their review of gene: VCP: Changed phenotypes to: neurodevelopmental disorder, MONDO:0700092, intellectual disability, MONDO:0001071
10 Nov 2023	Intellectual disability - microarray and sequencing v5.336	VCP	Achchuthan Shanmugasundram Tag Q4_23_promote_green tag was added to gene: VCP.
10 Nov 2023	Intellectual disability - microarray and sequencing v5.336	VCP	Achchuthan Shanmugasundram Classified gene: VCP as Amber List (moderate evidence)
10 Nov 2023	Intellectual disability - microarray and sequencing v5.336	VCP	Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Zornitza Stark, there is sufficient evidence available for adding this gene with green rating in the next GMS update.
10 Nov 2023	Intellectual disability - microarray and sequencing v5.336	VCP	Achchuthan Shanmugasundram Gene: vcp has been classified as Amber List (Moderate Evidence).
10 Nov 2023	Intellectual disability - microarray and sequencing v5.335	VCP	Achchuthan Shanmugasundram reviewed gene: VCP: Rating: GREEN; Mode of pathogenicity: None; Publications: 37883978; Phenotypes: Intellectual disability, MONDO:0001071; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
07 Nov 2023	Intellectual disability - microarray and sequencing v5.335	DPP6	Ivone Leong commented on gene: DPP6
07 Nov 2023	Intellectual disability - microarray and sequencing v5.335	DPP6	Ivone Leong Tag Q4_23_demote_red tag was added to gene: DPP6. Tag Q4_23_NHS_review tag was added to gene: DPP6. Tag Q4_23_expert_review tag was added to gene: DPP6.
07 Nov 2023	Intellectual disability - microarray and sequencing v5.335	SEC23B	Arina Puzriakova Phenotypes for gene: SEC23B were changed from Dyserythropoietic anemia, congenital, type II, 224100 to Dyserythropoietic anemia, congenital, type II, OMIM:224100
06 Nov 2023	Intellectual disability - microarray and sequencing v5.334	RAP1B	Achchuthan Shanmugasundram Deleted their comment
06 Nov 2023	Intellectual disability - microarray and sequencing v5.334	RAP1B	Achchuthan Shanmugasundram Classified gene: RAP1B as Amber List (moderate evidence)
06 Nov 2023	Intellectual disability - microarray and sequencing v5.334	RAP1B	Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available for the promotion of this gene to green rating in the next GMS review.
06 Nov 2023	Intellectual disability - microarray and sequencing v5.334	RAP1B	Achchuthan Shanmugasundram Gene: rap1b has been classified as Amber List (Moderate Evidence).
06 Nov 2023	Intellectual disability - microarray and sequencing v5.334	RAP1B	Achchuthan Shanmugasundram Classified gene: RAP1B as Amber List (moderate evidence)
06 Nov 2023	Intellectual disability - microarray and sequencing v5.334	RAP1B	Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available for the promotion of this gene to green rating in the next GMS review.
06 Nov 2023	Intellectual disability - microarray and sequencing v5.334	RAP1B	Achchuthan Shanmugasundram Gene: rap1b has been classified as Amber List (Moderate Evidence).
06 Nov 2023	Intellectual disability - microarray and sequencing v5.333	RAP1B	Achchuthan Shanmugasundram Publications for gene: RAP1B were set to 32627184; 26280580
06 Nov 2023	Intellectual disability - microarray and sequencing v5.332	RAP1B	Achchuthan Shanmugasundram Tag watchlist was removed from gene: RAP1B. Tag Q4_23_promote_green tag was added to gene: RAP1B.
06 Nov 2023	Intellectual disability - microarray and sequencing v5.332	RAP1B	Achchuthan Shanmugasundram changed review comment from: PMID:35451551 - New patient reported with mild intellectual disability, bicuspid aortic valve, dilation of aortic root and ascending aorta, hearing loss, and long‐standing thrombocytopenia with lymphopenia. A novel, missense RAP1B variant (p.Ala59Gly) has been identified in this patient. This variant is on the neighbouring amino acid to one of the previously reported variants (p.Gly60Arg). This variant is confirmed de novo and not in gnomAD; to: PMID:35451551 - New patient reported with mild intellectual disability, bicuspid aortic valve, dilation of aortic root and ascending aorta, hearing loss, and long‐standing thrombocytopenia with lymphopenia. A novel, missense RAP1B variant (p.Ala59Gly) has been identified in this patient. This variant is on the neighbouring amino acid to one of the previously reported variants (p.Gly60Arg). This variant is confirmed de novo and not in gnomAD. This gene has been associated with relevant phenotype in Gene2Phenotype database (with 'limited' rating in the DD panel), but not yet been associated with phenotypes in OMIM.
06 Nov 2023	Intellectual disability - microarray and sequencing v5.332	RAP1B	Achchuthan Shanmugasundram reviewed gene: RAP1B: Rating: GREEN; Mode of pathogenicity: None; Publications: 35451551; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
03 Nov 2023	Intellectual disability - microarray and sequencing v5.332	DPP6	Gavin Ryan reviewed gene: DPP6: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
03 Nov 2023	Intellectual disability - microarray and sequencing v5.332	SGSM3	Zornitza Stark gene: SGSM3 was added gene: SGSM3 was added to Intellectual disability - microarray and sequencing. Sources: Literature Mode of inheritance for gene: SGSM3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SGSM3 were set to 37833060 Phenotypes for gene: SGSM3 were set to Neurodevelopmental disorder (MONDO:0700092), SGSM3-related Review for gene: SGSM3 was set to AMBER Added comment: PMID: 37833060 - 13 patients from 8 families of Ashkenazi Jewish origin all had the same homozygous frameshift variant (c.981dup). Predicted to cause NMD. The variant co-segregated with disease in all available family members. The affected individuals displayed mild global developmental delay and mild to moderate intellectual disability. Additional features observed included hypotonia, behavioural challenges and short stature. Considered a founder variant (1 in 52 Ashkenazi Jews carry the variant). Also present in other populations but no homozygotes in gnomAD. Sources: Literature
03 Nov 2023	Intellectual disability - microarray and sequencing v5.332	AGPAT3	Zornitza Stark gene: AGPAT3 was added gene: AGPAT3 was added to Intellectual disability - microarray and sequencing. Sources: Literature Mode of inheritance for gene: AGPAT3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AGPAT3 were set to 37821758 Phenotypes for gene: AGPAT3 were set to Neurodevelopmental disorder (MONDO#0700092), AGPAT3-related Review for gene: AGPAT3 was set to AMBER Added comment: - Single consanguineous family with four individuals with severe intellectual disability and retinitis pigmentosa - All affected individuals were homozygous for a nonsense variant in AGPAT3, healthy unaffected individuals who were tested were heterozygous for the variant - Overexpression of mutant transcript revealed absence of AGPAT3 protein compared to WT transcript via Western blot analysis - KO AGPAT3 mouse demonstrated impaired neuronal migration Sources: Literature
03 Nov 2023	Intellectual disability - microarray and sequencing v5.332	VCP	Zornitza Stark gene: VCP was added gene: VCP was added to Intellectual disability - microarray and sequencing. Sources: Literature Mode of inheritance for gene: VCP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: VCP were set to 37883978 Phenotypes for gene: VCP were set to Neurodevelopmental disorder (MONDO: 0700092) Review for gene: VCP was set to GREEN Added comment: 13 unrelated individuals with childhood onset ID/DD disorder including macrocephaly, hypotonia and dysmorphic features. Non-specific / mild MRI findings. 12 de novo - 1 inherited Sources: Literature
02 Nov 2023	Intellectual disability - microarray and sequencing v5.332	ZBTB47	Sarah Leigh reviewed gene: ZBTB47: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
02 Nov 2023	Intellectual disability - microarray and sequencing v5.332	ZBTB47	Sarah Leigh Classified gene: ZBTB47 as Amber List (moderate evidence)
02 Nov 2023	Intellectual disability - microarray and sequencing v5.332	ZBTB47	Sarah Leigh Gene: zbtb47 has been classified as Amber List (Moderate Evidence).
02 Nov 2023	Intellectual disability - microarray and sequencing v5.331	MYCN	Sarah Leigh Publications for gene: MYCN were set to 37710961; 21224895; 8470948; 16906565; 18671284; 15821734; 18470948
02 Nov 2023	Intellectual disability - microarray and sequencing v5.330	MYCN	Sarah Leigh Added comment: Comment on mode of pathogenicity: Gain-of-function MYCN variants have been reported (PMID: 30573562; 37710961) where the phenotypic features are to an extent opposite the phenotype of Feingold syndrome 1 (OMIM:164280) caused by loss-of-function MYCN variants.
02 Nov 2023	Intellectual disability - microarray and sequencing v5.330	MYCN	Sarah Leigh Mode of pathogenicity for gene: MYCN was changed from to None
02 Nov 2023	Intellectual disability - microarray and sequencing v5.329	MYCN	Sarah Leigh Publications for gene: MYCN were set to 21224895; 8470948; 16906565; 18671284; 15821734; 18470948
02 Nov 2023	Intellectual disability - microarray and sequencing v5.328	MAST4	Sarah Leigh Tag Q4_23_promote_green tag was added to gene: MAST4.
02 Nov 2023	Intellectual disability - microarray and sequencing v5.328	MAST4	Sarah Leigh edited their review of gene: MAST4: Added comment: MAST4 variants have not been associated with a phenotype in OMIM, Gen2Phen or MONDO to date. PMID: 36910266 reports three de novo heterozygous MAST4 missense variants in four unrelated cases, with a neurodevelopmental disorder, including cognitive delay/intellectual disability and PMID: 33057194 reports four heterozygous MAST4 missense variants in four unrelated cases and a terminating variant in an additional case, from a cohort of 31,058 parent-offspring trios of individuals with developmental disorders. Between these two publications there are five missense MAST4 variants and one terminating variant. Variant c.4412C>T (p.Thr1471Ile) was seen in three unrelated cases.; Changed rating: GREEN
02 Nov 2023	Intellectual disability - microarray and sequencing v5.328	MAST4	Sarah Leigh Classified gene: MAST4 as Amber List (moderate evidence)
02 Nov 2023	Intellectual disability - microarray and sequencing v5.328	MAST4	Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
02 Nov 2023	Intellectual disability - microarray and sequencing v5.328	MAST4	Sarah Leigh Gene: mast4 has been classified as Amber List (Moderate Evidence).
02 Nov 2023	Intellectual disability - microarray and sequencing v5.327	MAST4	Sarah Leigh Classified gene: MAST4 as Amber List (moderate evidence)
02 Nov 2023	Intellectual disability - microarray and sequencing v5.327	MAST4	Sarah Leigh Gene: mast4 has been classified as Amber List (Moderate Evidence).
02 Nov 2023	Intellectual disability - microarray and sequencing v5.326	RBL2	Sarah Leigh Tag Q4_23_promote_green tag was added to gene: RBL2. Tag Q4_23_NHS_review tag was added to gene: RBL2.
02 Nov 2023	Intellectual disability - microarray and sequencing v5.326	RBL2	Sarah Leigh Classified gene: RBL2 as Amber List (moderate evidence)
02 Nov 2023	Intellectual disability - microarray and sequencing v5.326	RBL2	Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
02 Nov 2023	Intellectual disability - microarray and sequencing v5.326	RBL2	Sarah Leigh Gene: rbl2 has been classified as Amber List (Moderate Evidence).
02 Nov 2023	Intellectual disability - microarray and sequencing v5.325	RBL2	Sarah Leigh edited their review of gene: RBL2: Added comment: RBL2 variants have been associated with Brunet-Wagner neurodevelopmental syndrome (OMIM:619690) but not with phenotype in Gen2Phen. To date six RBL2 variants have been reported in four unrelated cases of OMIM:619690 (PMIDs: 32105419; 33980986).; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
02 Nov 2023	Intellectual disability - microarray and sequencing v5.325	RBL2	Sarah Leigh Phenotypes for gene: RBL2 were changed from intellectual diability to Brunet-Wagner neurodevelopmental syndrome, OMIM:619690
02 Nov 2023	Intellectual disability - microarray and sequencing v5.324	RBL2	Sarah Leigh Publications for gene: RBL2 were set to 32105419; 9806916
02 Nov 2023	Intellectual disability - microarray and sequencing v5.323	FAM111A	Sarah Leigh Tag Q4_23_demote_red tag was added to gene: FAM111A. Tag Q4_23_NHS_review tag was added to gene: FAM111A.
02 Nov 2023	Intellectual disability - microarray and sequencing v5.323	FAM111A	Sarah Leigh Publications for gene: FAM111A were set to 23684011; 23996431; 25529582; 37023242; 34382758
02 Nov 2023	Intellectual disability - microarray and sequencing v5.322	FAM111A	Sarah Leigh changed review comment from: Intellectual disability is not a feature of Gracile bone dysplasia (OMIM: 602361) or Kenny-Caffey syndrome, type 2 (OMIM: 127000)(PMID: 23684011;23996431;25529582).; to: Intellectual disability is not a feature of Gracile bone dysplasia (OMIM: 602361) or Kenny-Caffey syndrome, type 2 (OMIM: 127000)(PMID: 23684011;23996431;25529582). PMID: 34382758 reports an autosomal recessive case of Kenny-Caffey Syndrome Type 2. The proband had inherited FAM111A variants from his healthy parents (paternal heterozygous missense variant c.976T>A (p.L326I) and maternal heterozygous in-frame deletion variant c.1714_1716del (p.Ile572del, rs779963813)).
02 Nov 2023	Intellectual disability - microarray and sequencing v5.322	FAM111A	Sarah Leigh Publications for gene: FAM111A were set to 23684011; 25529582; 37023242
02 Nov 2023	Intellectual disability - microarray and sequencing v5.321	FAM111A	Sarah Leigh reviewed gene: FAM111A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
02 Nov 2023	Intellectual disability - microarray and sequencing v5.321	FAM111A	Sarah Leigh Publications for gene: FAM111A were set to 23684011
28 Oct 2023	Intellectual disability - microarray and sequencing v5.320	ARF3	Achchuthan Shanmugasundram Tag watchlist was removed from gene: ARF3.
28 Oct 2023	Intellectual disability - microarray and sequencing v5.320	ARF3	Achchuthan Shanmugasundram Classified gene: ARF3 as Amber List (moderate evidence)
28 Oct 2023	Intellectual disability - microarray and sequencing v5.320	ARF3	Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available for the promotion of this gene to green rating in the next GMS review.
28 Oct 2023	Intellectual disability - microarray and sequencing v5.320	ARF3	Achchuthan Shanmugasundram Gene: arf3 has been classified as Amber List (Moderate Evidence).
28 Oct 2023	Intellectual disability - microarray and sequencing v5.319	ARF3	Achchuthan Shanmugasundram Tag Q4_23_promote_green tag was added to gene: ARF3.
28 Oct 2023	Intellectual disability - microarray and sequencing v5.319	ARF3	Achchuthan Shanmugasundram Publications for gene: ARF3 were set to 34346499; 36369169
28 Oct 2023	Intellectual disability - microarray and sequencing v5.319	ARF3	Achchuthan Shanmugasundram Publications for gene: ARF3 were set to 34346499
28 Oct 2023	Intellectual disability - microarray and sequencing v5.318	ARF3	Achchuthan Shanmugasundram reviewed gene: ARF3: Rating: GREEN; Mode of pathogenicity: None; Publications: 36369169; Phenotypes: neurodevelopmental disorder, MONDO:0700092, intellectual disability, MONDO:0001071; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
26 Oct 2023	Intellectual disability - microarray and sequencing v5.318	RBL2	Mike Spiller reviewed gene: RBL2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 32105419, PMID: 33980986; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
25 Oct 2023	Intellectual disability - microarray and sequencing v5.317	KCNH5	Arina Puzriakova Phenotypes for gene: KCNH5 were changed from developmental and epileptic encephalopathy, MONDO:0100062; intellectual disability, MONDO:0001071 to Developmental and epileptic encephalopathy 112, OMIM:620537
24 Oct 2023	Intellectual disability - microarray and sequencing v5.315	DOCK8	Dmitrijs Rots reviewed gene: DOCK8: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
21 Oct 2023	Intellectual disability - microarray and sequencing v5.315	MYCN	Zornitza Stark edited their review of gene: MYCN: Added comment: PMID 37710961: Three individuals now reported with gain-of-function missense variants (identical variant in two individuals) and somewhat opposing phenotype cf Feingold. Clinical presentation includes megalencephaly, hypoplastic corpus callosum, postaxial polydactyly, intellectual disability and motor delay. Knock-in mouse model showed morphological manifestations in multiple tissues including digits, female reproductive system and kidney.; Changed publications to: 21224895, 8470948, 37710961; Changed phenotypes to: Feingold syndrome 1, Megalencephaly, intellectual disability, Neurodevelopmental disorder (MONDO:0700092), MYCN-related
21 Oct 2023	Intellectual disability - microarray and sequencing v5.315	MAST4	Zornitza Stark gene: MAST4 was added gene: MAST4 was added to Intellectual disability - microarray and sequencing. Sources: Literature Mode of inheritance for gene: MAST4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: MAST4 were set to 36910266; 33057194 Phenotypes for gene: MAST4 were set to neurodevelopmental disorder MONDO:0700092, MAST4-related Review for gene: MAST4 was set to GREEN Added comment: 9 individuals with de novo missense variants and ID reported altogether. PMID: 36910266 - 4 affecteds from unrelated families, all de novo missense 2x borderline microcephaly (-2SD) 2x gross motor delay 2x dysmorphism 4x ID + seizures 3x abnormal brain MRI findings PMID: 33057194 - 5x de novos, 4x missense + 1x PTC Cohort of individuals with severe developmental disorder individual phenotypic information not provided Recurrent variants are Thr1471Ile (3x) and Ser1181Phe) Sources: Literature
21 Oct 2023	Intellectual disability - microarray and sequencing v5.315	ZBTB47	Zornitza Stark gene: ZBTB47 was added gene: ZBTB47 was added to Intellectual disability - microarray and sequencing. Sources: Literature Mode of inheritance for gene: ZBTB47 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ZBTB47 were set to 37743782 Phenotypes for gene: ZBTB47 were set to Neurodevelopmental disorder (MONDO#0700092), ZBTB47-related Review for gene: ZBTB47 was set to GREEN Added comment: PMID 37743782: - 5 individuals with de novo missense variants, 4/5 have a recurring p.Gly477Lys. Probands have intellectual disability (5/5), seizures (5/5), hypotonia (5/5), gait abnormalities, and variable movement abnormalities (5/5). - Missense variants are positioned close to His and Cys residues involved in forming C2H2 zinc fingers. - No functional studies performed Sources: Literature
18 Oct 2023	Intellectual disability - microarray and sequencing v5.315	MT-ND4	Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing was removed from gene: MT-ND4.
18 Oct 2023	Intellectual disability - microarray and sequencing v5.315	MT-ND1	Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing was removed from gene: MT-ND1.
18 Oct 2023	Intellectual disability - microarray and sequencing v5.315	MT-ATP6	Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing was removed from gene: MT-ATP6.
17 Oct 2023	Intellectual disability - microarray and sequencing v5.315	ERI1	Achchuthan Shanmugasundram Classified gene: ERI1 as Amber List (moderate evidence)
17 Oct 2023	Intellectual disability - microarray and sequencing v5.315	ERI1	Achchuthan Shanmugasundram Added comment: Comment on list classification: There are four unrelated cases with biallelic null ERI1 variants and mild intellectual disability. Hence, this gene can be promoted to green rating in the next GMS review.
17 Oct 2023	Intellectual disability - microarray and sequencing v5.315	ERI1	Achchuthan Shanmugasundram Gene: eri1 has been classified as Amber List (Moderate Evidence).
17 Oct 2023	Intellectual disability - microarray and sequencing v5.314	ERI1	Achchuthan Shanmugasundram Tag Q4_23_promote_green tag was added to gene: ERI1.
17 Oct 2023	Intellectual disability - microarray and sequencing v5.314	ERI1	Achchuthan Shanmugasundram gene: ERI1 was added gene: ERI1 was added to Intellectual disability - microarray and sequencing. Sources: Literature Mode of inheritance for gene: ERI1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ERI1 were set to 36208065; 37352860 Phenotypes for gene: ERI1 were set to intellectual disability, MONDO:0001071 Review for gene: ERI1 was set to GREEN Added comment: PMID:36208065 reported a female patient with a homozygous nonsense variant in ERI1 gene and with mild intellectual disability (ID), eyelid ptosis, and anomalies in her hands and feet (brachydactyly, clinodactyly, dysplastic/short nail of halluces, brachytelephalangy, short metacarpals, and toe syndactyly). PMID:37352860 reported eight patients from seven unrelated families with compound heterozygous variants in ERI1 gene, of which four patients had missense variants, three had null variants and one had missense and PTC variants. The patients with missense variants had a more severe severe spondyloepimetaphyseal dysplasia, syndactyly, brachydactyly/clinodactyly/camptodactyly. The patients with null variants had mild ID and digit anomalies including brachydactyly/clinodactyly/camptodactyly. The patient with both missense and PTC variants had phenotype with short stature, syndactyly, brachydactyly/clinodactyly/camptodactyly, and delayed motor milestones and speech and generalised hypotonia. This gene has not yet been reported with relevant phenotypes either in OMIM or in Gene2Phenotype. Sources: Literature
17 Oct 2023	Intellectual disability - microarray and sequencing v5.313	TUBGCP2	Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: TUBGCP2.
17 Oct 2023	Intellectual disability - microarray and sequencing v5.313	MMGT1	Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: MMGT1.
17 Oct 2023	Intellectual disability - microarray and sequencing v5.313	MMGT1	Achchuthan Shanmugasundram commented on gene: MMGT1
17 Oct 2023	Intellectual disability - microarray and sequencing v5.313	HECTD4	Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: HECTD4.
17 Oct 2023	Intellectual disability - microarray and sequencing v5.313	HECTD4	Achchuthan Shanmugasundram commented on gene: HECTD4: The OMIM entry for this gene is OMIM:620209, which has been cross-checked with both Ensembl and HGNC. Hence, gene-checked tag has been added.
16 Oct 2023	Intellectual disability - microarray and sequencing v5.313	CCDC82	Achchuthan Shanmugasundram commented on gene: CCDC82: The OMIM entry for this gene is OMIM:619870, which has been cross-checked with both Ensembl and HGNC. Hence, gene-checked tag has been added.
16 Oct 2023	Intellectual disability - microarray and sequencing v5.313	CCDC82	Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: CCDC82.
16 Oct 2023	Intellectual disability - microarray and sequencing v5.313	CCDC32	Achchuthan Shanmugasundram changed review comment from: The OMIM entry for this gene is OMIM:619219, which has been cross-checked with Ensembl, HGNC and G2P. Hence, gene-checked tag has been added.; to: The OMIM entry for this gene is OMIM:618941, which has been cross-checked with Ensembl, HGNC and G2P. Hence, gene-checked tag has been added.
16 Oct 2023	Intellectual disability - microarray and sequencing v5.313	ZMYND8	Eleanor Williams commented on gene: ZMYND8
16 Oct 2023	Intellectual disability - microarray and sequencing v5.313	ZMYND8	Eleanor Williams Tag gene-checked tag was added to gene: ZMYND8.
16 Oct 2023	Intellectual disability - microarray and sequencing v5.313	TRA2B	Eleanor Williams Tag gene-checked tag was added to gene: TRA2B.
16 Oct 2023	Intellectual disability - microarray and sequencing v5.313	TRA2B	Eleanor Williams commented on gene: TRA2B
16 Oct 2023	Intellectual disability - microarray and sequencing v5.313	SLC32A1	Eleanor Williams commented on gene: SLC32A1
16 Oct 2023	Intellectual disability - microarray and sequencing v5.313	SLC32A1	Eleanor Williams Tag gene-checked tag was added to gene: SLC32A1.
16 Oct 2023	Intellectual disability - microarray and sequencing v5.313	SHANK1	Eleanor Williams Tag gene-checked tag was added to gene: SHANK1.
16 Oct 2023	Intellectual disability - microarray and sequencing v5.313	SHANK1	Eleanor Williams commented on gene: SHANK1
16 Oct 2023	Intellectual disability - microarray and sequencing v5.313	RBSN	Eleanor Williams commented on gene: RBSN
16 Oct 2023	Intellectual disability - microarray and sequencing v5.313	RBSN	Eleanor Williams Tag gene-checked tag was added to gene: RBSN.
16 Oct 2023	Intellectual disability - microarray and sequencing v5.313	POU3F2	Eleanor Williams Tag gene-checked tag was added to gene: POU3F2.
16 Oct 2023	Intellectual disability - microarray and sequencing v5.313	POU3F2	Eleanor Williams commented on gene: POU3F2
16 Oct 2023	Intellectual disability - microarray and sequencing v5.313	PLK1	Eleanor Williams Tag gene-checked tag was added to gene: PLK1.
16 Oct 2023	Intellectual disability - microarray and sequencing v5.313	PLK1	Eleanor Williams commented on gene: PLK1
16 Oct 2023	Intellectual disability - microarray and sequencing v5.313	PAN2	Eleanor Williams commented on gene: PAN2
16 Oct 2023	Intellectual disability - microarray and sequencing v5.313	PAN2	Eleanor Williams Tag gene-checked tag was added to gene: PAN2.
16 Oct 2023	Intellectual disability - microarray and sequencing v5.313	OTUD7A	Eleanor Williams commented on gene: OTUD7A
16 Oct 2023	Intellectual disability - microarray and sequencing v5.313	OTUD7A	Eleanor Williams Tag gene-checked tag was added to gene: OTUD7A.
16 Oct 2023	Intellectual disability - microarray and sequencing v5.313	LHX2	Eleanor Williams Tag gene-checked tag was added to gene: LHX2.
16 Oct 2023	Intellectual disability - microarray and sequencing v5.313	LHX2	Eleanor Williams commented on gene: LHX2
16 Oct 2023	Intellectual disability - microarray and sequencing v5.313	KLHL20	Eleanor Williams commented on gene: KLHL20
16 Oct 2023	Intellectual disability - microarray and sequencing v5.313	KLHL20	Eleanor Williams Tag gene-checked tag was added to gene: KLHL20.
16 Oct 2023	Intellectual disability - microarray and sequencing v5.313	KDM5A	Eleanor Williams Tag gene-checked tag was added to gene: KDM5A.
16 Oct 2023	Intellectual disability - microarray and sequencing v5.313	KDM5A	Eleanor Williams commented on gene: KDM5A
16 Oct 2023	Intellectual disability - microarray and sequencing v5.313	KDM2B	Eleanor Williams Tag gene-checked tag was added to gene: KDM2B.
16 Oct 2023	Intellectual disability - microarray and sequencing v5.313	KDM2B	Eleanor Williams commented on gene: KDM2B
16 Oct 2023	Intellectual disability - microarray and sequencing v5.313	CCDC32	Achchuthan Shanmugasundram commented on gene: CCDC32
16 Oct 2023	Intellectual disability - microarray and sequencing v5.313	C2orf69	Achchuthan Shanmugasundram changed review comment from: The OMIM entry for this gene is OMIM:619219, which has been crossed checked with both Ensembl and HGNC. Hence, gene-checked tag has been added.; to: The OMIM entry for this gene is OMIM:619219, which has been cross-checked with both Ensembl and HGNC. Hence, gene-checked tag has been added.
16 Oct 2023	Intellectual disability - microarray and sequencing v5.313	C2orf69	Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: C2orf69.
16 Oct 2023	Intellectual disability - microarray and sequencing v5.313	C2orf69	Achchuthan Shanmugasundram commented on gene: C2orf69
16 Oct 2023	Intellectual disability - microarray and sequencing v5.313	SPATA5	Achchuthan Shanmugasundram commented on gene: SPATA5
16 Oct 2023	Intellectual disability - microarray and sequencing v5.313	SPATA5L1	Achchuthan Shanmugasundram commented on gene: SPATA5L1
16 Oct 2023	Intellectual disability - microarray and sequencing v5.313	FILIP1	Eleanor Williams Tag gene-checked tag was added to gene: FILIP1.
16 Oct 2023	Intellectual disability - microarray and sequencing v5.313	FILIP1	Eleanor Williams commented on gene: FILIP1
16 Oct 2023	Intellectual disability - microarray and sequencing v5.313	SRRM2	Arina Puzriakova Phenotypes for gene: SRRM2 were changed from SRRM2-related developmental disorder (monoallelic) to Intellectual developmental disorder, autosomal dominant 72, OMIM:620439
16 Oct 2023	Intellectual disability - microarray and sequencing v5.312	DDX23	Eleanor Williams Tag gene-checked tag was added to gene: DDX23.
16 Oct 2023	Intellectual disability - microarray and sequencing v5.312	SRRM2	Arina Puzriakova Tag gene-checked was removed from gene: SRRM2.
16 Oct 2023	Intellectual disability - microarray and sequencing v5.312	DDX23	Eleanor Williams commented on gene: DDX23
16 Oct 2023	Intellectual disability - microarray and sequencing v5.312	SCAF4	Arina Puzriakova Phenotypes for gene: SCAF4 were changed from SCAF4-related Neurodevelopmental Disorder; Intellectual disability; Seizures; Behavioural abnormalities to Fliedner-Zweier syndrome, OMIM:620511
16 Oct 2023	Intellectual disability - microarray and sequencing v5.311	SCAF4	Arina Puzriakova Tag gene-checked was removed from gene: SCAF4.
16 Oct 2023	Intellectual disability - microarray and sequencing v5.311	CTR9	Eleanor Williams Tag gene-checked tag was added to gene: CTR9.
16 Oct 2023	Intellectual disability - microarray and sequencing v5.311	CTR9	Eleanor Williams commented on gene: CTR9
16 Oct 2023	Intellectual disability - microarray and sequencing v5.311	ROBO1	Arina Puzriakova Phenotypes for gene: ROBO1 were changed from ROBO1-related NDD; intellectual disability, MONDO:0001071 to Intellectual disability, MONDO:0001071; Neurooculorenal syndrome, OMIM:620305
16 Oct 2023	Intellectual disability - microarray and sequencing v5.310	RFX7	Arina Puzriakova Phenotypes for gene: RFX7 were changed from Intellectual disability, MONDO:0001071; Autism spectrum disorder, MONDO:0005258; Attention deficit-hyperactivity disorder, MONDO:0007743 to Intellectual developmental disorder, autosomal dominant 71, with behavioral abnormalities, OMIM:620330
16 Oct 2023	Intellectual disability - microarray and sequencing v5.309	RFX7	Arina Puzriakova Tag gene-checked was removed from gene: RFX7.
16 Oct 2023	Intellectual disability - microarray and sequencing v5.309	CLDN5	Eleanor Williams commented on gene: CLDN5
16 Oct 2023	Intellectual disability - microarray and sequencing v5.309	CLDN5	Eleanor Williams Tag gene-checked tag was added to gene: CLDN5.
16 Oct 2023	Intellectual disability - microarray and sequencing v5.309	AGO1	Arina Puzriakova Tag gene-checked was removed from gene: AGO1.
16 Oct 2023	Intellectual disability - microarray and sequencing v5.309	AGO1	Arina Puzriakova Phenotypes for gene: AGO1 were changed from Generalized hypotonia; Global developmental delay; Intellectual disability; Autism to Neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures, OMIM:620292
16 Oct 2023	Intellectual disability - microarray and sequencing v5.308	CAPRIN1	Eleanor Williams Tag gene-checked tag was added to gene: CAPRIN1.
16 Oct 2023	Intellectual disability - microarray and sequencing v5.308	CAPRIN1	Eleanor Williams commented on gene: CAPRIN1
14 Oct 2023	Intellectual disability - microarray and sequencing v5.308	SRSF1	Achchuthan Shanmugasundram Classified gene: SRSF1 as Amber List (moderate evidence)
14 Oct 2023	Intellectual disability - microarray and sequencing v5.308	SRSF1	Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available (15 unrelated cases and functional evidence) for the promotion of this gene to green rating in the next GMS review.
14 Oct 2023	Intellectual disability - microarray and sequencing v5.308	SRSF1	Achchuthan Shanmugasundram Gene: srsf1 has been classified as Amber List (Moderate Evidence).
14 Oct 2023	Intellectual disability - microarray and sequencing v5.307	SRSF1	Achchuthan Shanmugasundram Tag Q4_23_promote_green tag was added to gene: SRSF1.
14 Oct 2023	Intellectual disability - microarray and sequencing v5.307	SRSF1	Achchuthan Shanmugasundram gene: SRSF1 was added gene: SRSF1 was added to Intellectual disability - microarray and sequencing. Sources: Literature Mode of inheritance for gene: SRSF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SRSF1 were set to 37071997 Phenotypes for gene: SRSF1 were set to Neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities, OMIM:620489 Review for gene: SRSF1 was set to GREEN Added comment: There are 17 individuals from 16 different families were reported with 15 different monoallelic variants (mostly de novo) in SRSF1 gene. They were reported with a neurodevelopmental disorder mainly comprising neurological abnormalities such as intellectual disability/ developmental delay, motor delay, speech delay, and behavioural disorders and facial dysmorphisms. Intellectual disability was present in 16 of 17 individuals (3 severe, 2 moderate, 3 mild to moderate, 3 mild, 1 borderline and 4 unknown severity), while the remaining one had learning disability. Functional testing of a subset of variants in Drosophila supported pathogenicity in most, but 2 missense variants showed no functional effect and were classified VUS. This gene has already been associated with neurodevelopmental disorder in both OMIM (MIM #620489) and Gene2Phenotype ('limited' rating in the DD panel). Sources: Literature
11 Oct 2023	Intellectual disability - microarray and sequencing v5.306	GCSH	Arina Puzriakova Phenotypes for gene: GCSH were changed from ?Glycine encephalopathy, OMIM:605899; Neurodevelopmental disorder, MONDO:0700092 to Multiple mitochondrial dysfunctions syndrome 7, OMIM:620423; Glycine encephalopathy; Transient neonatal hyperglycinemia
11 Oct 2023	Intellectual disability - microarray and sequencing v5.305	ZNF292	Arina Puzriakova Tag Q1_23_promote_green was removed from gene: ZNF292. Tag Q1_23_NHS_review was removed from gene: ZNF292.
11 Oct 2023	Intellectual disability - microarray and sequencing v5.305	ZMYND8	Arina Puzriakova Tag Q2_23_promote_green was removed from gene: ZMYND8.
11 Oct 2023	Intellectual disability - microarray and sequencing v5.305	ZMYM3	Arina Puzriakova Phenotypes for gene: ZMYM3 were changed from X-linked mental retardation to Intellectual developmental disorder, X-linked 112, OMIM:301111
11 Oct 2023	Intellectual disability - microarray and sequencing v5.304	ZMYM3	Arina Puzriakova Tag Q1_23_promote_green was removed from gene: ZMYM3.
11 Oct 2023	Intellectual disability - microarray and sequencing v5.304	WIPI2	Arina Puzriakova Phenotypes for gene: WIPI2 were changed from ?Intellectual developmental disorder with short stature and variable skeletal anomalies 618453 to Intellectual developmental disorder with short stature and variable skeletal anomalies, OMIM:618453
11 Oct 2023	Intellectual disability - microarray and sequencing v5.303	WIPI2	Arina Puzriakova Tag Q2_23_promote_green was removed from gene: WIPI2.
11 Oct 2023	Intellectual disability - microarray and sequencing v5.303	UBAP2L	Arina Puzriakova Phenotypes for gene: UBAP2L were changed from Delayed speech and language development; Motor delay; Intellectual disability; Autistic behavior; Seizures; Microcephaly; Abnormality of head or neck; Short stature; Abnormality of the skeletal system to Neurodevelopmental disorder with impaired language, behavioral abnormalities, and dysmorphic facies, OMIM:620494
11 Oct 2023	Intellectual disability - microarray and sequencing v5.302	UBAP2L	Arina Puzriakova Tag Q1_23_promote_green was removed from gene: UBAP2L.
11 Oct 2023	Intellectual disability - microarray and sequencing v5.302	TRA2B	Arina Puzriakova Tag Q2_23_promote_green was removed from gene: TRA2B.
11 Oct 2023	Intellectual disability - microarray and sequencing v5.302	TMEM147	Arina Puzriakova Tag Q1_23_promote_green was removed from gene: TMEM147.
11 Oct 2023	Intellectual disability - microarray and sequencing v5.302	TCEAL1	Arina Puzriakova Tag Q2_23_promote_green was removed from gene: TCEAL1.
11 Oct 2023	Intellectual disability - microarray and sequencing v5.302	TAF4	Arina Puzriakova Phenotypes for gene: TAF4 were changed from intellectual disability, MONDO:0001071 to Intellectual developmental disorder, autosomal dominant 73, OMIM:620450
11 Oct 2023	Intellectual disability - microarray and sequencing v5.301	TAF4	Arina Puzriakova Tag Q2_23_promote_green was removed from gene: TAF4.
11 Oct 2023	Intellectual disability - microarray and sequencing v5.301	TAF2	Arina Puzriakova Phenotypes for gene: TAF2 were changed from Mental retardation, autosomal recessive 40, 615599 to Mental retardation, autosomal recessive 40, OMIM:615599
11 Oct 2023	Intellectual disability - microarray and sequencing v5.300	TAF2	Arina Puzriakova Tag Q2_23_promote_green was removed from gene: TAF2.
11 Oct 2023	Intellectual disability - microarray and sequencing v5.300	SUFU	Arina Puzriakova Tag watchlist_moi was removed from gene: SUFU. Tag Q4_22_MOI was removed from gene: SUFU. Tag Q4_22_promote_green was removed from gene: SUFU. Tag Q4_22_expert_review was removed from gene: SUFU.
11 Oct 2023	Intellectual disability - microarray and sequencing v5.300	STXBP1	Arina Puzriakova Tag Q1_23_MOI was removed from gene: STXBP1.
11 Oct 2023	Intellectual disability - microarray and sequencing v5.300	SLC32A1	Arina Puzriakova Tag Q2_23_promote_green was removed from gene: SLC32A1.
11 Oct 2023	Intellectual disability - microarray and sequencing v5.300	SHANK1	Arina Puzriakova Tag Q2_23_promote_green was removed from gene: SHANK1.
11 Oct 2023	Intellectual disability - microarray and sequencing v5.300	SEMA6B	Arina Puzriakova Tag Q1_23_promote_green was removed from gene: SEMA6B.
11 Oct 2023	Intellectual disability - microarray and sequencing v5.300	SARS	Arina Puzriakova Tag Q1_23_promote_green was removed from gene: SARS.
11 Oct 2023	Intellectual disability - microarray and sequencing v5.300	ROR2	Arina Puzriakova Tag Q4_22_demote_red was removed from gene: ROR2. Tag Q4_22_NHS_review was removed from gene: ROR2.
11 Oct 2023	Intellectual disability - microarray and sequencing v5.300	ROBO1	Arina Puzriakova Tag Q1_23_promote_green was removed from gene: ROBO1.
11 Oct 2023	Intellectual disability - microarray and sequencing v5.300	RBSN	Arina Puzriakova Tag Q1_23_promote_green was removed from gene: RBSN.
11 Oct 2023	Intellectual disability - microarray and sequencing v5.300	PRKAR1B	Arina Puzriakova Phenotypes for gene: PRKAR1B were changed from Global developmental delay; Intellectual disability; Autism; Attention deficit hyperactivity disorder; Aggressive behavior; Abnormality of movement; Upslanted palpebral fissure to Marbach-Schaaf neurodevelopmental syndrome, OMIM:619680
11 Oct 2023	Intellectual disability - microarray and sequencing v5.299	PRKAR1B	Arina Puzriakova Tag watchlist was removed from gene: PRKAR1B. Tag Q2_23_promote_green was removed from gene: PRKAR1B.
11 Oct 2023	Intellectual disability - microarray and sequencing v5.299	PPFIBP1	Arina Puzriakova Tag Q2_23_promote_green was removed from gene: PPFIBP1.
11 Oct 2023	Intellectual disability - microarray and sequencing v5.299	POU3F2	Arina Puzriakova Tag Q2_23_promote_green was removed from gene: POU3F2.
11 Oct 2023	Intellectual disability - microarray and sequencing v5.299	PLXNA1	Arina Puzriakova Tag Q2_23_promote_green was removed from gene: PLXNA1.
11 Oct 2023	Intellectual disability - microarray and sequencing v5.299	PLK1	Arina Puzriakova Tag Q2_23_promote_green was removed from gene: PLK1.
11 Oct 2023	Intellectual disability - microarray and sequencing v5.299	PAX6	Arina Puzriakova Tag Q1_23_demote_red was removed from gene: PAX6. Tag Q1_23_NHS_review was removed from gene: PAX6.
11 Oct 2023	Intellectual disability - microarray and sequencing v5.299	PAN2	Arina Puzriakova Tag Q1_23_promote_green was removed from gene: PAN2.
11 Oct 2023	Intellectual disability - microarray and sequencing v5.299	OTUD7A	Arina Puzriakova Phenotypes for gene: OTUD7A were changed from Epileptic encephalopathy, intellectual disability, no OMIM# yet to developmental and epileptic encephalopathy, MONDO:0100062; intellectual disability, MONDO:0001071
11 Oct 2023	Intellectual disability - microarray and sequencing v5.298	OTUD7A	Arina Puzriakova Tag Q2_23_promote_green was removed from gene: OTUD7A.
11 Oct 2023	Intellectual disability - microarray and sequencing v5.298	NUP214	Arina Puzriakova Tag Q2_23_promote_green was removed from gene: NUP214.
11 Oct 2023	Intellectual disability - microarray and sequencing v5.298	MTSS1L	Arina Puzriakova Phenotypes for gene: MTSS1L were changed from Global developmental delay; Intellectual disability; Ophthalmological anomalies; Microcephaly; Mild facial dysmorphisms to Intellectual developmental disorder with ocular anomalies and distinctive facial features, OMIM:620086
11 Oct 2023	Intellectual disability - microarray and sequencing v5.297	MTSS1L	Arina Puzriakova Tag Q4_22_promote_green was removed from gene: MTSS1L.
11 Oct 2023	Intellectual disability - microarray and sequencing v5.297	MED11	Arina Puzriakova Phenotypes for gene: MED11 were changed from MED11-associated neurodevelopmental disorder to Neurodegeneration with developmental delay, early respiratory failure, myoclonic seizures, and brain abnormalities, OMIM:620327
11 Oct 2023	Intellectual disability - microarray and sequencing v5.296	MED11	Arina Puzriakova Tag Q2_23_promote_green was removed from gene: MED11.
11 Oct 2023	Intellectual disability - microarray and sequencing v5.296	MAN2C1	Arina Puzriakova Tag Q2_23_promote_green was removed from gene: MAN2C1.
11 Oct 2023	Intellectual disability - microarray and sequencing v5.296	LHX2	Arina Puzriakova Phenotypes for gene: LHX2 were changed from neurodevelopmental disorder to neurodevelopmental disorder, MONDO:0700092
11 Oct 2023	Intellectual disability - microarray and sequencing v5.295	LHX2	Arina Puzriakova Tag Q2_23_promote_green was removed from gene: LHX2.
11 Oct 2023	Intellectual disability - microarray and sequencing v5.295	KLHL20	Arina Puzriakova Tag Q4_22_promote_green was removed from gene: KLHL20.
11 Oct 2023	Intellectual disability - microarray and sequencing v5.295	KIF4A	Arina Puzriakova Tag Q2_23_promote_green was removed from gene: KIF4A.
11 Oct 2023	Intellectual disability - microarray and sequencing v5.295	KDM5A	Arina Puzriakova Phenotypes for gene: KDM5A were changed from AUTOSOMAL RECESSIVE MENTAL RETARDATION; autism spectrum disorder, MONDO:0005258; intellectual disability, MONDO:0001071 to autism spectrum disorder, MONDO:0005258; intellectual disability, MONDO:0001071
11 Oct 2023	Intellectual disability - microarray and sequencing v5.294	KDM5A	Arina Puzriakova Tag Q2_23_promote_green was removed from gene: KDM5A. Tag Q2_23_NHS_review was removed from gene: KDM5A.
11 Oct 2023	Intellectual disability - microarray and sequencing v5.294	KDM2B	Arina Puzriakova Tag Q2_23_promote_green was removed from gene: KDM2B.
11 Oct 2023	Intellectual disability - microarray and sequencing v5.294	KCNK3	Arina Puzriakova Tag Q4_22_promote_green was removed from gene: KCNK3.
11 Oct 2023	Intellectual disability - microarray and sequencing v5.294	ITPR1	Arina Puzriakova Tag Q2_23_MOI was removed from gene: ITPR1. Tag Q2_23_NHS_review was removed from gene: ITPR1.
11 Oct 2023	Intellectual disability - microarray and sequencing v5.294	IQSEC2	Arina Puzriakova Phenotypes for gene: IQSEC2 were changed from Mental retardation, X-linked 1, 309530; non-syndromic X-linked intellectual disability; Rett like phenotype in males; MENTAL RETARDATION X-LINKED TYPE 1 (MRX1) to Intellectual developmental disorder, X-linked 1, OMIM:309530
11 Oct 2023	Intellectual disability - microarray and sequencing v5.293	IQSEC2	Arina Puzriakova Tag Q2_23_MOI was removed from gene: IQSEC2.
11 Oct 2023	Intellectual disability - microarray and sequencing v5.293	INTS11	Arina Puzriakova Phenotypes for gene: INTS11 were changed from Complex neurodevelopmental disorder, MONDO:0100038 to Neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities, OMIM:620428
11 Oct 2023	Intellectual disability - microarray and sequencing v5.292	INTS11	Arina Puzriakova Tag Q2_23_promote_green was removed from gene: INTS11.
11 Oct 2023	Intellectual disability - microarray and sequencing v5.292	HUWE1	Arina Puzriakova Tag Q2_23_MOI was removed from gene: HUWE1.
11 Oct 2023	Intellectual disability - microarray and sequencing v5.292	HIST1H4E	Arina Puzriakova Tag Q1_23_promote_green was removed from gene: HIST1H4E.
11 Oct 2023	Intellectual disability - microarray and sequencing v5.292	HECTD4	Arina Puzriakova Tag Q2_23_promote_green was removed from gene: HECTD4.
11 Oct 2023	Intellectual disability - microarray and sequencing v5.292	GRM7	Arina Puzriakova Tag Q2_23_promote_green was removed from gene: GRM7.
11 Oct 2023	Intellectual disability - microarray and sequencing v5.292	GRIA1	Arina Puzriakova Tag watchlist_moi tag was added to gene: GRIA1.
11 Oct 2023	Intellectual disability - microarray and sequencing v5.292	GRIA1	Arina Puzriakova Tag Autism Spectrum Disorder was removed from gene: GRIA1. Tag Q2_23_promote_green was removed from gene: GRIA1.
11 Oct 2023	Intellectual disability - microarray and sequencing v5.292	GCSH	Arina Puzriakova Tag Q1_23_promote_green was removed from gene: GCSH.
11 Oct 2023	Intellectual disability - microarray and sequencing v5.292	FRMD5	Arina Puzriakova Tag Q4_22_promote_green was removed from gene: FRMD5.
11 Oct 2023	Intellectual disability - microarray and sequencing v5.292	FLNA	Arina Puzriakova Tag Q2_23_demote_red was removed from gene: FLNA.
11 Oct 2023	Intellectual disability - microarray and sequencing v5.292	FILIP1	Arina Puzriakova Tag Q2_23_promote_green was removed from gene: FILIP1.
11 Oct 2023	Intellectual disability - microarray and sequencing v5.292	ENTPD1	Arina Puzriakova Tag Q2_23_promote_green was removed from gene: ENTPD1.
11 Oct 2023	Intellectual disability - microarray and sequencing v5.292	DPH5	Arina Puzriakova Phenotypes for gene: DPH5 were changed from DPH5-related neurodevelopmental disorder to Neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties, OMIM:620070
11 Oct 2023	Intellectual disability - microarray and sequencing v5.291	DPH5	Arina Puzriakova Tag Q4_22_promote_green was removed from gene: DPH5.
11 Oct 2023	Intellectual disability - microarray and sequencing v5.291	DDX23	Arina Puzriakova Phenotypes for gene: DDX23 were changed from Neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment, OMIM:620066 to Global developmental delay with speech and behavioral abnormalities, MONDO:0030995
11 Oct 2023	Intellectual disability - microarray and sequencing v5.290	DOHH	Arina Puzriakova Phenotypes for gene: DOHH were changed from DOHH associated neurodevelopmental disorder to Neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment, OMIM:620066
11 Oct 2023	Intellectual disability - microarray and sequencing v5.289	DDX23	Arina Puzriakova Phenotypes for gene: DDX23 were changed from Global developmental delay with speech and behavioral abnormalities, MONDO:0030995 to Neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment, OMIM:620066
11 Oct 2023	Intellectual disability - microarray and sequencing v5.288	DOHH	Arina Puzriakova Tag Q4_22_MOI was removed from gene: DOHH. Tag Q4_22_promote_green was removed from gene: DOHH.
11 Oct 2023	Intellectual disability - microarray and sequencing v5.288	DDX23	Arina Puzriakova Phenotypes for gene: DDX23 were changed from Developmental disorder to Global developmental delay with speech and behavioral abnormalities, MONDO:0030995
11 Oct 2023	Intellectual disability - microarray and sequencing v5.287	DDX23	Arina Puzriakova Tag watchlist was removed from gene: DDX23. Tag Q2_23_promote_green was removed from gene: DDX23.
11 Oct 2023	Intellectual disability - microarray and sequencing v5.287	CTR9	Arina Puzriakova Tag Q1_23_promote_green was removed from gene: CTR9.
11 Oct 2023	Intellectual disability - microarray and sequencing v5.287	CPLX1	Arina Puzriakova Tag Q1_23_promote_green was removed from gene: CPLX1.
11 Oct 2023	Intellectual disability - microarray and sequencing v5.287	CLDN5	Arina Puzriakova Tag Q2_23_promote_green was removed from gene: CLDN5.
11 Oct 2023	Intellectual disability - microarray and sequencing v5.287	CCDC82	Arina Puzriakova Tag Q2_23_promote_green was removed from gene: CCDC82.
11 Oct 2023	Intellectual disability - microarray and sequencing v5.287	CAPRIN1	Arina Puzriakova Phenotypes for gene: CAPRIN1 were changed from Global developmental delay; Delayed speech and language development; Intellectual disability; Autistic behaviour; Seizures to Global developmental delay; Delayed speech and language development; Intellectual disability; Autistic behaviour; Seizures
11 Oct 2023	Intellectual disability - microarray and sequencing v5.287	CAPRIN1	Arina Puzriakova Phenotypes for gene: CAPRIN1 were changed from AUTISM OR INTELLECTUAL DISABILITY to Global developmental delay; Delayed speech and language development; Intellectual disability; Autistic behaviour; Seizures
11 Oct 2023	Intellectual disability - microarray and sequencing v5.286	CAPRIN1	Arina Puzriakova Tag Q1_23_promote_green was removed from gene: CAPRIN1.
11 Oct 2023	Intellectual disability - microarray and sequencing v5.286	C2orf69	Arina Puzriakova Tag Q2_23_promote_green was removed from gene: C2orf69.
11 Oct 2023	Intellectual disability - microarray and sequencing v5.286	BUB1	Arina Puzriakova Tag Q4_22_promote_green was removed from gene: BUB1.
11 Oct 2023	Intellectual disability - microarray and sequencing v5.286	BAP1	Arina Puzriakova Tag Q1_23_promote_green was removed from gene: BAP1.
11 Oct 2023	Intellectual disability - microarray and sequencing v5.286	ZNF292	Arina Puzriakova reviewed gene: ZNF292: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
11 Oct 2023	Intellectual disability - microarray and sequencing v5.286	ZMYND8	Arina Puzriakova reviewed gene: ZMYND8: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
11 Oct 2023	Intellectual disability - microarray and sequencing v5.286	ZMYM3	Arina Puzriakova reviewed gene: ZMYM3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
11 Oct 2023	Intellectual disability - microarray and sequencing v5.286	WIPI2	Arina Puzriakova reviewed gene: WIPI2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
11 Oct 2023	Intellectual disability - microarray and sequencing v5.286	UBAP2L	Arina Puzriakova reviewed gene: UBAP2L: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
11 Oct 2023	Intellectual disability - microarray and sequencing v5.286	TRA2B	Arina Puzriakova reviewed gene: TRA2B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
11 Oct 2023	Intellectual disability - microarray and sequencing v5.286	TMEM147	Arina Puzriakova reviewed gene: TMEM147: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
11 Oct 2023	Intellectual disability - microarray and sequencing v5.286	TCEAL1	Arina Puzriakova reviewed gene: TCEAL1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
11 Oct 2023	Intellectual disability - microarray and sequencing v5.286	TAF4	Arina Puzriakova reviewed gene: TAF4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
11 Oct 2023	Intellectual disability - microarray and sequencing v5.286	TAF2	Arina Puzriakova reviewed gene: TAF2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
11 Oct 2023	Intellectual disability - microarray and sequencing v5.286	SUFU	Arina Puzriakova commented on gene: SUFU: After NHS Genomic Medicine Service consideration, the rating of this gene has been updated to Green but the mode of inheritance has been set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal. Additional comments from reviewing GLHs: 'Consensus view: Monoallelic and biallelic'.
11 Oct 2023	Intellectual disability - microarray and sequencing v5.286	STXBP1	Arina Puzriakova reviewed gene: STXBP1: Rating: ; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
11 Oct 2023	Intellectual disability - microarray and sequencing v5.286	SLC32A1	Arina Puzriakova reviewed gene: SLC32A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
11 Oct 2023	Intellectual disability - microarray and sequencing v5.286	SHANK1	Arina Puzriakova reviewed gene: SHANK1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
11 Oct 2023	Intellectual disability - microarray and sequencing v5.286	SEMA6B	Arina Puzriakova reviewed gene: SEMA6B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
11 Oct 2023	Intellectual disability - microarray and sequencing v5.286	SARS	Arina Puzriakova commented on gene: SARS: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.
11 Oct 2023	Intellectual disability - microarray and sequencing v5.286	ROR2	Arina Puzriakova edited their review of gene: ROR2: Added comment: The rating of this gene has been updated to Red following NHS Genomic Medicine Service approval.; Changed rating: RED
11 Oct 2023	Intellectual disability - microarray and sequencing v5.286	ROBO1	Arina Puzriakova reviewed gene: ROBO1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
11 Oct 2023	Intellectual disability - microarray and sequencing v5.286	RBSN	Arina Puzriakova reviewed gene: RBSN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
11 Oct 2023	Intellectual disability - microarray and sequencing v5.286	PRKAR1B	Arina Puzriakova reviewed gene: PRKAR1B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
11 Oct 2023	Intellectual disability - microarray and sequencing v5.286	PPFIBP1	Arina Puzriakova reviewed gene: PPFIBP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
11 Oct 2023	Intellectual disability - microarray and sequencing v5.286	POU3F2	Arina Puzriakova reviewed gene: POU3F2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
11 Oct 2023	Intellectual disability - microarray and sequencing v5.286	PLXNA1	Arina Puzriakova reviewed gene: PLXNA1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
11 Oct 2023	Intellectual disability - microarray and sequencing v5.286	PLK1	Arina Puzriakova reviewed gene: PLK1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
11 Oct 2023	Intellectual disability - microarray and sequencing v5.286	PAX6	Arina Puzriakova reviewed gene: PAX6: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
11 Oct 2023	Intellectual disability - microarray and sequencing v5.286	PAN2	Arina Puzriakova reviewed gene: PAN2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
11 Oct 2023	Intellectual disability - microarray and sequencing v5.286	OTUD7A	Arina Puzriakova reviewed gene: OTUD7A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
11 Oct 2023	Intellectual disability - microarray and sequencing v5.286	NUP214	Arina Puzriakova reviewed gene: NUP214: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
11 Oct 2023	Intellectual disability - microarray and sequencing v5.286	MTSS1L	Arina Puzriakova commented on gene: MTSS1L: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.
11 Oct 2023	Intellectual disability - microarray and sequencing v5.286	MED11	Arina Puzriakova reviewed gene: MED11: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
11 Oct 2023	Intellectual disability - microarray and sequencing v5.286	MAN2C1	Arina Puzriakova reviewed gene: MAN2C1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
11 Oct 2023	Intellectual disability - microarray and sequencing v5.286	LHX2	Arina Puzriakova reviewed gene: LHX2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
11 Oct 2023	Intellectual disability - microarray and sequencing v5.286	KLHL20	Arina Puzriakova edited their review of gene: KLHL20: Added comment: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
11 Oct 2023	Intellectual disability - microarray and sequencing v5.286	KIF4A	Arina Puzriakova reviewed gene: KIF4A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
11 Oct 2023	Intellectual disability - microarray and sequencing v5.286	KDM5A	Arina Puzriakova reviewed gene: KDM5A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
11 Oct 2023	Intellectual disability - microarray and sequencing v5.286	KDM2B	Arina Puzriakova reviewed gene: KDM2B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
11 Oct 2023	Intellectual disability - microarray and sequencing v5.286	KCNK3	Arina Puzriakova edited their review of gene: KCNK3: Added comment: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.; Changed rating: GREEN
11 Oct 2023	Intellectual disability - microarray and sequencing v5.286	ITPR1	Arina Puzriakova edited their review of gene: ITPR1: Added comment: The mode of inheritance of this gene has been updated to 'BOTH monoallelic and biallelic, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
11 Oct 2023	Intellectual disability - microarray and sequencing v5.286	IQSEC2	Arina Puzriakova reviewed gene: IQSEC2: Rating: ; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
11 Oct 2023	Intellectual disability - microarray and sequencing v5.286	INTS11	Arina Puzriakova edited their review of gene: INTS11: Added comment: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
11 Oct 2023	Intellectual disability - microarray and sequencing v5.286	HUWE1	Arina Puzriakova reviewed gene: HUWE1: Rating: ; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
11 Oct 2023	Intellectual disability - microarray and sequencing v5.286	HIST1H4E	Arina Puzriakova reviewed gene: HIST1H4E: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
11 Oct 2023	Intellectual disability - microarray and sequencing v5.286	HECTD4	Arina Puzriakova reviewed gene: HECTD4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
11 Oct 2023	Intellectual disability - microarray and sequencing v5.286	GRM7	Arina Puzriakova reviewed gene: GRM7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
11 Oct 2023	Intellectual disability - microarray and sequencing v5.286	GRIA1	Arina Puzriakova edited their review of gene: GRIA1: Added comment: The rating of this gene has been updated to Green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
11 Oct 2023	Intellectual disability - microarray and sequencing v5.286	GCSH	Arina Puzriakova reviewed gene: GCSH: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
11 Oct 2023	Intellectual disability - microarray and sequencing v5.286	FRMD5	Arina Puzriakova commented on gene: FRMD5: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.
11 Oct 2023	Intellectual disability - microarray and sequencing v5.286	FLNA	Arina Puzriakova reviewed gene: FLNA: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
11 Oct 2023	Intellectual disability - microarray and sequencing v5.286	FILIP1	Arina Puzriakova reviewed gene: FILIP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
11 Oct 2023	Intellectual disability - microarray and sequencing v5.286	ENTPD1	Arina Puzriakova edited their review of gene: ENTPD1: Added comment: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.; Changed rating: GREEN
11 Oct 2023	Intellectual disability - microarray and sequencing v5.286	DPH5	Arina Puzriakova reviewed gene: DPH5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
11 Oct 2023	Intellectual disability - microarray and sequencing v5.286	DOHH	Arina Puzriakova reviewed gene: DOHH: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
11 Oct 2023	Intellectual disability - microarray and sequencing v5.286	DDX23	Arina Puzriakova reviewed gene: DDX23: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
11 Oct 2023	Intellectual disability - microarray and sequencing v5.286	CTR9	Arina Puzriakova reviewed gene: CTR9: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
11 Oct 2023	Intellectual disability - microarray and sequencing v5.286	CPLX1	Arina Puzriakova reviewed gene: CPLX1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
11 Oct 2023	Intellectual disability - microarray and sequencing v5.286	CLDN5	Arina Puzriakova reviewed gene: CLDN5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
11 Oct 2023	Intellectual disability - microarray and sequencing v5.286	CCDC82	Arina Puzriakova reviewed gene: CCDC82: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
11 Oct 2023	Intellectual disability - microarray and sequencing v5.286	CAPRIN1	Arina Puzriakova reviewed gene: CAPRIN1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
11 Oct 2023	Intellectual disability - microarray and sequencing v5.286	C2orf69	Arina Puzriakova edited their review of gene: C2orf69: Added comment: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
11 Oct 2023	Intellectual disability - microarray and sequencing v5.286	BUB1	Arina Puzriakova edited their review of gene: BUB1: Added comment: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
11 Oct 2023	Intellectual disability - microarray and sequencing v5.286	BAP1	Arina Puzriakova reviewed gene: BAP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
11 Oct 2023	Intellectual disability - microarray and sequencing v5.286	ZNF292	Arina Puzriakova Source NHS GMS was added to ZNF292. Source Expert Review Green was added to ZNF292. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
11 Oct 2023	Intellectual disability - microarray and sequencing v5.286	ZMYND8	Arina Puzriakova Source NHS GMS was added to ZMYND8. Source Expert Review Green was added to ZMYND8. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
11 Oct 2023	Intellectual disability - microarray and sequencing v5.286	ZMYM3	Arina Puzriakova Source NHS GMS was added to ZMYM3. Source Expert Review Green was added to ZMYM3. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
11 Oct 2023	Intellectual disability - microarray and sequencing v5.286	WIPI2	Arina Puzriakova Source NHS GMS was added to WIPI2. Source Expert Review Green was added to WIPI2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
11 Oct 2023	Intellectual disability - microarray and sequencing v5.286	UBAP2L	Arina Puzriakova Source NHS GMS was added to UBAP2L. Source Expert Review Green was added to UBAP2L. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
11 Oct 2023	Intellectual disability - microarray and sequencing v5.286	TRA2B	Arina Puzriakova Source NHS GMS was added to TRA2B. Source Expert Review Green was added to TRA2B. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
11 Oct 2023	Intellectual disability - microarray and sequencing v5.286	TMEM147	Arina Puzriakova Source NHS GMS was added to TMEM147. Source Expert Review Green was added to TMEM147. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
11 Oct 2023	Intellectual disability - microarray and sequencing v5.286	TCEAL1	Arina Puzriakova Source NHS GMS was added to TCEAL1. Source Expert Review Green was added to TCEAL1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
11 Oct 2023	Intellectual disability - microarray and sequencing v5.286	TAF4	Arina Puzriakova Source NHS GMS was added to TAF4. Source Expert Review Green was added to TAF4. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
11 Oct 2023	Intellectual disability - microarray and sequencing v5.286	TAF2	Arina Puzriakova Source NHS GMS was added to TAF2. Source Expert Review Green was added to TAF2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
11 Oct 2023	Intellectual disability - microarray and sequencing v5.286	SUFU	Arina Puzriakova Source NHS GMS was added to SUFU. Source Expert Review Green was added to SUFU. Mode of inheritance for gene SUFU was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
11 Oct 2023	Intellectual disability - microarray and sequencing v5.286	STXBP1	Arina Puzriakova Source NHS GMS was added to STXBP1. Mode of inheritance for gene STXBP1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
11 Oct 2023	Intellectual disability - microarray and sequencing v5.286	SLC32A1	Arina Puzriakova Source NHS GMS was added to SLC32A1. Source Expert Review Green was added to SLC32A1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
11 Oct 2023	Intellectual disability - microarray and sequencing v5.286	SHANK1	Arina Puzriakova Source NHS GMS was added to SHANK1. Source Expert Review Green was added to SHANK1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
11 Oct 2023	Intellectual disability - microarray and sequencing v5.286	SEMA6B	Arina Puzriakova Source NHS GMS was added to SEMA6B. Source Expert Review Green was added to SEMA6B. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
11 Oct 2023	Intellectual disability - microarray and sequencing v5.286	SARS	Arina Puzriakova Source NHS GMS was added to SARS. Source Expert Review Green was added to SARS. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
11 Oct 2023	Intellectual disability - microarray and sequencing v5.286	ROR2	Arina Puzriakova Source Expert Review Red was added to ROR2. Source NHS GMS was added to ROR2. Rating Changed from Green List (high evidence) to Red List (low evidence)
11 Oct 2023	Intellectual disability - microarray and sequencing v5.286	ROBO1	Arina Puzriakova Source NHS GMS was added to ROBO1. Source Expert Review Green was added to ROBO1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
11 Oct 2023	Intellectual disability - microarray and sequencing v5.286	RBSN	Arina Puzriakova Source NHS GMS was added to RBSN. Source Expert Review Green was added to RBSN. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
11 Oct 2023	Intellectual disability - microarray and sequencing v5.286	PRKAR1B	Arina Puzriakova Source NHS GMS was added to PRKAR1B. Source Expert Review Green was added to PRKAR1B. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
11 Oct 2023	Intellectual disability - microarray and sequencing v5.286	PPFIBP1	Arina Puzriakova Source NHS GMS was added to PPFIBP1. Source Expert Review Green was added to PPFIBP1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
11 Oct 2023	Intellectual disability - microarray and sequencing v5.286	POU3F2	Arina Puzriakova Source NHS GMS was added to POU3F2. Source Expert Review Green was added to POU3F2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
11 Oct 2023	Intellectual disability - microarray and sequencing v5.286	PLXNA1	Arina Puzriakova Source NHS GMS was added to PLXNA1. Source Expert Review Green was added to PLXNA1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
11 Oct 2023	Intellectual disability - microarray and sequencing v5.286	PLK1	Arina Puzriakova Source NHS GMS was added to PLK1. Source Expert Review Green was added to PLK1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
11 Oct 2023	Intellectual disability - microarray and sequencing v5.286	PAX6	Arina Puzriakova Source Expert Review Red was added to PAX6. Source NHS GMS was added to PAX6. Rating Changed from Green List (high evidence) to Red List (low evidence)
11 Oct 2023	Intellectual disability - microarray and sequencing v5.286	PAN2	Arina Puzriakova Source NHS GMS was added to PAN2. Source Expert Review Green was added to PAN2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
11 Oct 2023	Intellectual disability - microarray and sequencing v5.286	OTUD7A	Arina Puzriakova Source NHS GMS was added to OTUD7A. Source Expert Review Green was added to OTUD7A. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
11 Oct 2023	Intellectual disability - microarray and sequencing v5.286	NUP214	Arina Puzriakova Source NHS GMS was added to NUP214. Source Expert Review Green was added to NUP214. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
11 Oct 2023	Intellectual disability - microarray and sequencing v5.286	MTSS1L	Arina Puzriakova Source NHS GMS was added to MTSS1L. Source Expert Review Green was added to MTSS1L. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
11 Oct 2023	Intellectual disability - microarray and sequencing v5.286	MED11	Arina Puzriakova Source NHS GMS was added to MED11. Source Expert Review Green was added to MED11. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
11 Oct 2023	Intellectual disability - microarray and sequencing v5.286	MAN2C1	Arina Puzriakova Source NHS GMS was added to MAN2C1. Source Expert Review Green was added to MAN2C1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
11 Oct 2023	Intellectual disability - microarray and sequencing v5.286	LHX2	Arina Puzriakova Source NHS GMS was added to LHX2. Source Expert Review Green was added to LHX2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
11 Oct 2023	Intellectual disability - microarray and sequencing v5.286	KLHL20	Arina Puzriakova Source NHS GMS was added to KLHL20. Source Expert Review Green was added to KLHL20. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
11 Oct 2023	Intellectual disability - microarray and sequencing v5.286	KIF4A	Arina Puzriakova Source NHS GMS was added to KIF4A. Source Expert Review Green was added to KIF4A. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
11 Oct 2023	Intellectual disability - microarray and sequencing v5.286	KDM5A	Arina Puzriakova Source NHS GMS was added to KDM5A. Source Expert Review Green was added to KDM5A. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
11 Oct 2023	Intellectual disability - microarray and sequencing v5.286	KDM2B	Arina Puzriakova Source NHS GMS was added to KDM2B. Source Expert Review Green was added to KDM2B. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
11 Oct 2023	Intellectual disability - microarray and sequencing v5.286	KCNK3	Arina Puzriakova Source NHS GMS was added to KCNK3. Source Expert Review Green was added to KCNK3. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
11 Oct 2023	Intellectual disability - microarray and sequencing v5.286	ITPR1	Arina Puzriakova Source NHS GMS was added to ITPR1. Mode of inheritance for gene ITPR1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
11 Oct 2023	Intellectual disability - microarray and sequencing v5.286	IQSEC2	Arina Puzriakova Source NHS GMS was added to IQSEC2. Mode of inheritance for gene IQSEC2 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
11 Oct 2023	Intellectual disability - microarray and sequencing v5.286	INTS11	Arina Puzriakova Source NHS GMS was added to INTS11. Source Expert Review Green was added to INTS11. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
11 Oct 2023	Intellectual disability - microarray and sequencing v5.286	HUWE1	Arina Puzriakova Source NHS GMS was added to HUWE1. Mode of inheritance for gene HUWE1 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
11 Oct 2023	Intellectual disability - microarray and sequencing v5.286	HIST1H4E	Arina Puzriakova Source NHS GMS was added to HIST1H4E. Source Expert Review Green was added to HIST1H4E. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
11 Oct 2023	Intellectual disability - microarray and sequencing v5.286	HECTD4	Arina Puzriakova Source NHS GMS was added to HECTD4. Source Expert Review Green was added to HECTD4. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
11 Oct 2023	Intellectual disability - microarray and sequencing v5.286	GRM7	Arina Puzriakova Source NHS GMS was added to GRM7. Source Expert Review Green was added to GRM7. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
11 Oct 2023	Intellectual disability - microarray and sequencing v5.286	GRIA1	Arina Puzriakova Source NHS GMS was added to GRIA1. Source Expert Review Green was added to GRIA1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
11 Oct 2023	Intellectual disability - microarray and sequencing v5.286	GCSH	Arina Puzriakova Source NHS GMS was added to GCSH. Source Expert Review Green was added to GCSH. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
11 Oct 2023	Intellectual disability - microarray and sequencing v5.286	FRMD5	Arina Puzriakova Source NHS GMS was added to FRMD5. Source Expert Review Green was added to FRMD5. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
11 Oct 2023	Intellectual disability - microarray and sequencing v5.286	FLNA	Arina Puzriakova Source Expert Review Red was added to FLNA. Source NHS GMS was added to FLNA. Rating Changed from Green List (high evidence) to Red List (low evidence)
11 Oct 2023	Intellectual disability - microarray and sequencing v5.286	FILIP1	Arina Puzriakova Source NHS GMS was added to FILIP1. Source Expert Review Green was added to FILIP1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
11 Oct 2023	Intellectual disability - microarray and sequencing v5.286	ENTPD1	Arina Puzriakova Source NHS GMS was added to ENTPD1. Source Expert Review Green was added to ENTPD1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
11 Oct 2023	Intellectual disability - microarray and sequencing v5.286	DPH5	Arina Puzriakova Source NHS GMS was added to DPH5. Source Expert Review Green was added to DPH5. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
11 Oct 2023	Intellectual disability - microarray and sequencing v5.286	DOHH	Arina Puzriakova Source NHS GMS was added to DOHH. Source Expert Review Green was added to DOHH. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
11 Oct 2023	Intellectual disability - microarray and sequencing v5.286	DDX23	Arina Puzriakova Source NHS GMS was added to DDX23. Source Expert Review Green was added to DDX23. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
11 Oct 2023	Intellectual disability - microarray and sequencing v5.286	CTR9	Arina Puzriakova Source NHS GMS was added to CTR9. Source Expert Review Green was added to CTR9. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
11 Oct 2023	Intellectual disability - microarray and sequencing v5.286	CPLX1	Arina Puzriakova Source NHS GMS was added to CPLX1. Source Expert Review Green was added to CPLX1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
11 Oct 2023	Intellectual disability - microarray and sequencing v5.286	CLDN5	Arina Puzriakova Source NHS GMS was added to CLDN5. Source Expert Review Green was added to CLDN5. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
11 Oct 2023	Intellectual disability - microarray and sequencing v5.286	CCDC82	Arina Puzriakova Source NHS GMS was added to CCDC82. Source Expert Review Green was added to CCDC82. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
11 Oct 2023	Intellectual disability - microarray and sequencing v5.286	CAPRIN1	Arina Puzriakova Source NHS GMS was added to CAPRIN1. Source Expert Review Green was added to CAPRIN1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
11 Oct 2023	Intellectual disability - microarray and sequencing v5.286	C2orf69	Arina Puzriakova Source NHS GMS was added to C2orf69. Source Expert Review Green was added to C2orf69. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
11 Oct 2023	Intellectual disability - microarray and sequencing v5.286	BUB1	Arina Puzriakova Source NHS GMS was added to BUB1. Source Expert Review Green was added to BUB1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
11 Oct 2023	Intellectual disability - microarray and sequencing v5.286	BAP1	Arina Puzriakova Source NHS GMS was added to BAP1. Source Expert Review Green was added to BAP1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
05 Oct 2023	Intellectual disability - microarray and sequencing v5.285	HECTD4	Achchuthan Shanmugasundram Deleted their comment
05 Oct 2023	Intellectual disability - microarray and sequencing v5.285	HECTD4	Achchuthan Shanmugasundram Deleted their comment
02 Oct 2023	Intellectual disability - microarray and sequencing v5.285	SPATA5L1	Achchuthan Shanmugasundram Tag new-gene-name tag was added to gene: SPATA5L1.
02 Oct 2023	Intellectual disability - microarray and sequencing v5.285	SPATA5	Achchuthan Shanmugasundram Tag new-gene-name tag was added to gene: SPATA5.
14 Sep 2023	Intellectual disability - microarray and sequencing v5.285	RAB5C	Achchuthan Shanmugasundram changed review comment from: Comment on list classification: As reviewed by Zornitza Stark, there is sufficient evidence for this gene to be promoted to green rating at the next GMS update.; to: Comment on list classification: As reviewed by Zornitza Stark, there is sufficient evidence (12 unrelated cases) for this gene to be promoted to green rating at the next GMS update.
14 Sep 2023	Intellectual disability - microarray and sequencing v5.285	RAB5C	Achchuthan Shanmugasundram Classified gene: RAB5C as Amber List (moderate evidence)
14 Sep 2023	Intellectual disability - microarray and sequencing v5.285	RAB5C	Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Zornitza Stark, there is sufficient evidence for this gene to be promoted to green rating at the next GMS update.
14 Sep 2023	Intellectual disability - microarray and sequencing v5.285	RAB5C	Achchuthan Shanmugasundram Gene: rab5c has been classified as Amber List (Moderate Evidence).
14 Sep 2023	Intellectual disability - microarray and sequencing v5.284	RAB5C	Achchuthan Shanmugasundram Tag Q3_23_promote_green tag was added to gene: RAB5C.
13 Sep 2023	Intellectual disability - microarray and sequencing v5.284	ESAM	Achchuthan Shanmugasundram changed review comment from: As reviewed by Julia Baptista, PMID:36996813 reported the identification of biallelic ESAM variants in 13 individuals from eight unrelated families, which included four foetuses. All nine born individuals had profound global developmental delay/ unspecified intellectual disability, epilepsy, absent or severely delayed speech, varying degrees of spasticity, ventriculomegaly, and ICH/ cerebral calcifications, the latter being also observed in the foetuses. This gene has been associated with relevant phenotypes in OMIM (MIM #620371), but not yet in Gene2Phenotype.; to: As reviewed by Julia Baptista, PMID:36996813 reported the identification of biallelic ESAM variants in 13 individuals from eight unrelated families, which included four foetuses. All nine live-born individuals had profound global developmental delay/ unspecified intellectual disability, epilepsy, absent or severely delayed speech, varying degrees of spasticity, ventriculomegaly, and ICH/ cerebral calcifications, the latter being also observed in the foetuses. This gene has been associated with relevant phenotypes in OMIM (MIM #620371), but not yet in Gene2Phenotype.
13 Sep 2023	Intellectual disability - microarray and sequencing v5.284	ESAM	Achchuthan Shanmugasundram Classified gene: ESAM as Amber List (moderate evidence)
13 Sep 2023	Intellectual disability - microarray and sequencing v5.284	ESAM	Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence for this gene to be promoted to green rating in the next GMS review.
13 Sep 2023	Intellectual disability - microarray and sequencing v5.284	ESAM	Achchuthan Shanmugasundram Gene: esam has been classified as Amber List (Moderate Evidence).
13 Sep 2023	Intellectual disability - microarray and sequencing v5.283	ESAM	Achchuthan Shanmugasundram Phenotypes for gene: ESAM were changed from severe ID; seizures, spasticity to Neurodevelopmental disorder with intracranial hemorrhage, seizures, and spasticity, OMIM:620371
13 Sep 2023	Intellectual disability - microarray and sequencing v5.282	ESAM	Achchuthan Shanmugasundram Publications for gene: ESAM were set to PMID: 36996813
13 Sep 2023	Intellectual disability - microarray and sequencing v5.281	ESAM	Achchuthan Shanmugasundram Tag Q3_23_promote_green tag was added to gene: ESAM. Tag Q3_23_NHS_review tag was added to gene: ESAM.
13 Sep 2023	Intellectual disability - microarray and sequencing v5.281	ESAM	Achchuthan Shanmugasundram reviewed gene: ESAM: Rating: GREEN; Mode of pathogenicity: None; Publications: 36996813; Phenotypes: Neurodevelopmental disorder with intracranial hemorrhage, seizures, and spasticity, OMIM:620371; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
13 Sep 2023	Intellectual disability - microarray and sequencing v5.281	PPP1R3F	Achchuthan Shanmugasundram Deleted their comment
13 Sep 2023	Intellectual disability - microarray and sequencing v5.281	PPP1R3F	Achchuthan Shanmugasundram Deleted their comment
13 Sep 2023	Intellectual disability - microarray and sequencing v5.281	PPP1R3F	Achchuthan Shanmugasundram Classified gene: PPP1R3F as Amber List (moderate evidence)
13 Sep 2023	Intellectual disability - microarray and sequencing v5.281	PPP1R3F	Achchuthan Shanmugasundram Added comment: Comment on list classification: There are at least nine patients reported with intellectual disability and with hemizygious PPP1R3F variants and hence this gene should be promoted to green rating at the next GMS review.
13 Sep 2023	Intellectual disability - microarray and sequencing v5.281	PPP1R3F	Achchuthan Shanmugasundram Gene: ppp1r3f has been classified as Amber List (Moderate Evidence).
13 Sep 2023	Intellectual disability - microarray and sequencing v5.281	PPP1R3F	Achchuthan Shanmugasundram Classified gene: PPP1R3F as Amber List (moderate evidence)
13 Sep 2023	Intellectual disability - microarray and sequencing v5.281	PPP1R3F	Achchuthan Shanmugasundram Added comment: Comment on list classification: There are at least nine patients reported with intellectual disability and with hemizygious PPP1R3F variants and hence this gene should be promoted to green rating at the next GMS review.
13 Sep 2023	Intellectual disability - microarray and sequencing v5.281	PPP1R3F	Achchuthan Shanmugasundram Gene: ppp1r3f has been classified as Amber List (Moderate Evidence).
13 Sep 2023	Intellectual disability - microarray and sequencing v5.281	PPP1R3F	Achchuthan Shanmugasundram Deleted their comment
13 Sep 2023	Intellectual disability - microarray and sequencing v5.281	PPP1R3F	Achchuthan Shanmugasundram Deleted their comment
13 Sep 2023	Intellectual disability - microarray and sequencing v5.281	PPP1R3F	Achchuthan Shanmugasundram Deleted their comment
13 Sep 2023	Intellectual disability - microarray and sequencing v5.281	PPP1R3F	Achchuthan Shanmugasundram Classified gene: PPP1R3F as Amber List (moderate evidence)
13 Sep 2023	Intellectual disability - microarray and sequencing v5.281	PPP1R3F	Achchuthan Shanmugasundram Added comment: Comment on list classification: There are at least nine patients reported with intellectual disability and with hemizygious PPP1R3F variants and hence this gene should be promoted to green rating at the next GMS review.
13 Sep 2023	Intellectual disability - microarray and sequencing v5.281	PPP1R3F	Achchuthan Shanmugasundram Gene: ppp1r3f has been classified as Amber List (Moderate Evidence).
13 Sep 2023	Intellectual disability - microarray and sequencing v5.281	PPP1R3F	Achchuthan Shanmugasundram Classified gene: PPP1R3F as Amber List (moderate evidence)
13 Sep 2023	Intellectual disability - microarray and sequencing v5.281	PPP1R3F	Achchuthan Shanmugasundram Added comment: Comment on list classification: There are at least nine patients reported with intellectual disability and with hemizygious PPP1R3F variants and hence this gene should be promoted to green rating at the next GMS review.
13 Sep 2023	Intellectual disability - microarray and sequencing v5.281	PPP1R3F	Achchuthan Shanmugasundram Gene: ppp1r3f has been classified as Amber List (Moderate Evidence).
13 Sep 2023	Intellectual disability - microarray and sequencing v5.281	PPP1R3F	Achchuthan Shanmugasundram Classified gene: PPP1R3F as Amber List (moderate evidence)
13 Sep 2023	Intellectual disability - microarray and sequencing v5.281	PPP1R3F	Achchuthan Shanmugasundram Added comment: Comment on list classification: There are at least nine patients reported with intellectual disability and with hemizygious PPP1R3F variants and hence this gene should be promoted to green rating at the next GMS review.
13 Sep 2023	Intellectual disability - microarray and sequencing v5.281	PPP1R3F	Achchuthan Shanmugasundram Gene: ppp1r3f has been classified as Amber List (Moderate Evidence).
13 Sep 2023	Intellectual disability - microarray and sequencing v5.281	PPP1R3F	Achchuthan Shanmugasundram Classified gene: PPP1R3F as Amber List (moderate evidence)
13 Sep 2023	Intellectual disability - microarray and sequencing v5.281	PPP1R3F	Achchuthan Shanmugasundram Added comment: Comment on list classification: There are at least nine patients reported with intellectual disability and with hemizygious PPP1R3F variants and hence this gene should be promoted to green rating at the next GMS review.
13 Sep 2023	Intellectual disability - microarray and sequencing v5.281	PPP1R3F	Achchuthan Shanmugasundram Gene: ppp1r3f has been classified as Amber List (Moderate Evidence).
13 Sep 2023	Intellectual disability - microarray and sequencing v5.280	PPP1R3F	Achchuthan Shanmugasundram Phenotypes for gene: PPP1R3F were changed from neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071 to neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071
13 Sep 2023	Intellectual disability - microarray and sequencing v5.279	PPP1R3F	Achchuthan Shanmugasundram Tag Q3_23_promote_green tag was added to gene: PPP1R3F.
13 Sep 2023	Intellectual disability - microarray and sequencing v5.279	PPP1R3F	Achchuthan Shanmugasundram Phenotypes for gene: PPP1R3F were changed from neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071 to neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071
13 Sep 2023	Intellectual disability - microarray and sequencing v5.280	PPP1R3F	Achchuthan Shanmugasundram Phenotypes for gene: PPP1R3F were changed from neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071 to neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071
13 Sep 2023	Intellectual disability - microarray and sequencing v5.280	PPP1R3F	Achchuthan Shanmugasundram Phenotypes for gene: PPP1R3F were changed from neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071 to neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071
13 Sep 2023	Intellectual disability - microarray and sequencing v5.280	PPP1R3F	Achchuthan Shanmugasundram Phenotypes for gene: PPP1R3F were changed from neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071 to neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071
13 Sep 2023	Intellectual disability - microarray and sequencing v5.279	PPP1R3F	Achchuthan Shanmugasundram Phenotypes for gene: PPP1R3F were changed from neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071 to neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071
13 Sep 2023	Intellectual disability - microarray and sequencing v5.278	PPP1R3F	Achchuthan Shanmugasundram Phenotypes for gene: PPP1R3F were changed from neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071 to neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071
13 Sep 2023	Intellectual disability - microarray and sequencing v5.279	PPP1R3F	Achchuthan Shanmugasundram Phenotypes for gene: PPP1R3F were changed from neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071Neurodevelopmental Disorder, MONDO:0700092,PPP1R3F-related to neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071
13 Sep 2023	Intellectual disability - microarray and sequencing v5.278	PPP1R3F	Achchuthan Shanmugasundram Phenotypes for gene: PPP1R3F were changed from neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071Neurodevelopmental Disorder, MONDO:0700092,PPP1R3F-related to neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071Neurodevelopmental Disorder, MONDO:0700092,PPP1R3F-related
13 Sep 2023	Intellectual disability - microarray and sequencing v5.278	PPP1R3F	Achchuthan Shanmugasundram Phenotypes for gene: PPP1R3F were changed from neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071Neurodevelopmental Disorder, MONDO:0700092,PPP1R3F-related to neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071Neurodevelopmental Disorder, MONDO:0700092,PPP1R3F-related
13 Sep 2023	Intellectual disability - microarray and sequencing v5.278	PPP1R3F	Achchuthan Shanmugasundram Phenotypes for gene: PPP1R3F were changed from Neurodevelopmental Disorder, MONDO:0700092,PPP1R3F-related to neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071Neurodevelopmental Disorder, MONDO:0700092,PPP1R3F-related
13 Sep 2023	Intellectual disability - microarray and sequencing v5.277	PPP1R3F	Achchuthan Shanmugasundram reviewed gene: PPP1R3F: Rating: GREEN; Mode of pathogenicity: None; Publications: 37531237; Phenotypes: neurodevelopmental disorder, MONDO:0700092, intellectual disability, MONDO:0001071; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
13 Sep 2023	Intellectual disability - microarray and sequencing v5.277	NR2F2	Achchuthan Shanmugasundram Tag Q3_23_promote_green tag was added to gene: NR2F2. Tag Q3_23_NHS_review tag was added to gene: NR2F2.
13 Sep 2023	Intellectual disability - microarray and sequencing v5.277	NR2F2	Achchuthan Shanmugasundram Deleted their comment
13 Sep 2023	Intellectual disability - microarray and sequencing v5.277	NR2F2	Achchuthan Shanmugasundram Classified gene: NR2F2 as Amber List (moderate evidence)
13 Sep 2023	Intellectual disability - microarray and sequencing v5.277	NR2F2	Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence for this gene to be promoted to green rating in the next GMS review.
13 Sep 2023	Intellectual disability - microarray and sequencing v5.277	NR2F2	Achchuthan Shanmugasundram Gene: nr2f2 has been classified as Amber List (Moderate Evidence).
13 Sep 2023	Intellectual disability - microarray and sequencing v5.277	NR2F2	Achchuthan Shanmugasundram Classified gene: NR2F2 as Amber List (moderate evidence)
13 Sep 2023	Intellectual disability - microarray and sequencing v5.277	NR2F2	Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence for this gene to be promoted to green rating in the next GMS review.
13 Sep 2023	Intellectual disability - microarray and sequencing v5.277	NR2F2	Achchuthan Shanmugasundram Gene: nr2f2 has been classified as Amber List (Moderate Evidence).
13 Sep 2023	Intellectual disability - microarray and sequencing v5.276	NR2F2	Achchuthan Shanmugasundram changed review comment from: This gene is an established gene for congenital heart defects (MIM #615779) and disorder of sexual differentiation (MIM #618901). This gene has been associated with these two phenotypes in both OMIM and Gene2Phenotype. PMID:29663647 - An 11-month old boy was reported with global developmental delay, dysmorphic features, coarctation of the aorta, and ventricular septal defect and was identified with pathogenic NR2F2 variant. PMID:37500725 - 16 previously unreported unrelated individuals (and a mildly affected mosaic mother of one of them) with rare heterozygous variants (majority are de novo variants) were reviewed in this publication and they had variable clinical presentations including intrauterine growth restriction (IUGR), CHD, CDH, genital anomalies, DSD, developmental delays, hypotonia, feeding difficulties, failure to thrive, congenital and acquired microcephaly, dysmorphic facial features, renal failure, hearing loss, strabismus, asplenia, and vascular malformations. All 14 for whom data is available had motor delays and 13 had speech delay. One of them had global developmental delay, one had mild intellectual disability and four had learning disabilities.; to: This gene is an established gene for congenital heart defects (MIM #615779) and disorder of sexual differentiation (MIM #618901). This gene has been associated with these two phenotypes in both OMIM and Gene2Phenotype. Some patients with CHD (MIM #615779) are reported with developmental delays in the OMIM record. PMID:29663647 - An 11-month old boy was reported with global developmental delay, dysmorphic features, coarctation of the aorta, and ventricular septal defect and was identified with pathogenic NR2F2 variant. PMID:37500725 - 16 previously unreported unrelated individuals (and a mildly affected mosaic mother of one of them) with rare heterozygous variants (majority are de novo variants) were reviewed in this publication and they had variable clinical presentations including intrauterine growth restriction (IUGR), CHD, CDH, genital anomalies, DSD, developmental delays, hypotonia, feeding difficulties, failure to thrive, congenital and acquired microcephaly, dysmorphic facial features, renal failure, hearing loss, strabismus, asplenia, and vascular malformations. All 14 for whom data is available had motor delays and 13 had speech delay. One of them had global developmental delay, one had mild intellectual disability and four had learning disabilities.
13 Sep 2023	Intellectual disability - microarray and sequencing v5.276	NR2F2	Achchuthan Shanmugasundram changed review comment from: This gene is an established gene for congenital heart defects (MIM #615779) and disorder of sexual differentiation (MIM #618901). PMID:29663647 - An 11-month old boy was reported with global developmental delay, dysmorphic features, coarctation of the aorta, and ventricular septal defect and was identified with pathogenic NR2F2 variant. PMID:37500725 - 16 previously unreported unrelated individuals (and a mildly affected mosaic mother of one of them) with rare heterozygous variants (majority are de novo variants) were reviewed in this publication and they had variable clinical presentations including intrauterine growth restriction (IUGR), CHD, CDH, genital anomalies, DSD, developmental delays, hypotonia, feeding difficulties, failure to thrive, congenital and acquired microcephaly, dysmorphic facial features, renal failure, hearing loss, strabismus, asplenia, and vascular malformations. All 14 for whom data is available had motor delays and 13 had speech delay. One of them had global developmental delay, one had mild intellectual disability and four had learning disabilities.; to: This gene is an established gene for congenital heart defects (MIM #615779) and disorder of sexual differentiation (MIM #618901). This gene has been associated with these two phenotypes in both OMIM and Gene2Phenotype. PMID:29663647 - An 11-month old boy was reported with global developmental delay, dysmorphic features, coarctation of the aorta, and ventricular septal defect and was identified with pathogenic NR2F2 variant. PMID:37500725 - 16 previously unreported unrelated individuals (and a mildly affected mosaic mother of one of them) with rare heterozygous variants (majority are de novo variants) were reviewed in this publication and they had variable clinical presentations including intrauterine growth restriction (IUGR), CHD, CDH, genital anomalies, DSD, developmental delays, hypotonia, feeding difficulties, failure to thrive, congenital and acquired microcephaly, dysmorphic facial features, renal failure, hearing loss, strabismus, asplenia, and vascular malformations. All 14 for whom data is available had motor delays and 13 had speech delay. One of them had global developmental delay, one had mild intellectual disability and four had learning disabilities.
13 Sep 2023	Intellectual disability - microarray and sequencing v5.276	NR2F2	Achchuthan Shanmugasundram Publications for gene: NR2F2 were set to 29663647; 37500725
13 Sep 2023	Intellectual disability - microarray and sequencing v5.276	NR2F2	Achchuthan Shanmugasundram Publications for gene: NR2F2 were set to 29663647; 37500725
13 Sep 2023	Intellectual disability - microarray and sequencing v5.276	NR2F2	Achchuthan Shanmugasundram Publications for gene: NR2F2 were set to
13 Sep 2023	Intellectual disability - microarray and sequencing v5.275	NR2F2	Achchuthan Shanmugasundram Mode of inheritance for gene: NR2F2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
13 Sep 2023	Intellectual disability - microarray and sequencing v5.275	NR2F2	Achchuthan Shanmugasundram Mode of inheritance for gene: NR2F2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
13 Sep 2023	Intellectual disability - microarray and sequencing v5.275	NR2F2	Achchuthan Shanmugasundram Mode of inheritance for gene: NR2F2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
13 Sep 2023	Intellectual disability - microarray and sequencing v5.275	NR2F2	Achchuthan Shanmugasundram Mode of inheritance for gene: NR2F2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
13 Sep 2023	Intellectual disability - microarray and sequencing v5.274	NR2F2	Achchuthan Shanmugasundram Deleted their comment
13 Sep 2023	Intellectual disability - microarray and sequencing v5.274	NR2F2	Achchuthan Shanmugasundram commented on gene: NR2F2: This gene is an established gene for congenital heart defects (MIM #615779) and disorder of sexual differentiation (MIM #618901). PMID:29663647 - An 11-month old boy was reported with global developmental delay, dysmorphic features, coarctation of the aorta, and ventricular septal defect and was identified with pathogenic NR2F2 variant. PMID:37500725 - 16 previously unreported unrelated individuals (and a mildly affected mosaic mother of one of them) with rare heterozygous variants (majority are de novo variants) were reviewed in this publication and they had variable clinical presentations including intrauterine growth restriction (IUGR), CHD, CDH, genital anomalies, DSD, developmental delays, hypotonia, feeding difficulties, failure to thrive, congenital and acquired microcephaly, dysmorphic facial features, renal failure, hearing loss, strabismus, asplenia, and vascular malformations. All 14 for whom data is available had motor delays and 13 had speech delay. One of them had global developmental delay, one had mild intellectual disability and four had learning disabilities.
13 Sep 2023	Intellectual disability - microarray and sequencing v5.274	NR2F2	Achchuthan Shanmugasundram reviewed gene: NR2F2: Rating: GREEN; Mode of pathogenicity: None; Publications: 29663647, 37500725; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
12 Sep 2023	Intellectual disability - microarray and sequencing v5.274	U2AF2	Achchuthan Shanmugasundram Phenotypes for gene: U2AF2 were changed from neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071 to neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071
12 Sep 2023	Intellectual disability - microarray and sequencing v5.274	U2AF2	Achchuthan Shanmugasundram Phenotypes for gene: U2AF2 were changed from neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071 to neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071
12 Sep 2023	Intellectual disability - microarray and sequencing v5.275	U2AF2	Achchuthan Shanmugasundram Phenotypes for gene: U2AF2 were changed from neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071 to neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071
12 Sep 2023	Intellectual disability - microarray and sequencing v5.274	U2AF2	Achchuthan Shanmugasundram Phenotypes for gene: U2AF2 were changed from neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071 to neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071
12 Sep 2023	Intellectual disability - microarray and sequencing v5.275	U2AF2	Achchuthan Shanmugasundram Phenotypes for gene: U2AF2 were changed from neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071 to neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071
12 Sep 2023	Intellectual disability - microarray and sequencing v5.275	U2AF2	Achchuthan Shanmugasundram Tag Q3_23_promote_green tag was added to gene: U2AF2. Tag Q3_23_NHS_review tag was added to gene: U2AF2.
12 Sep 2023	Intellectual disability - microarray and sequencing v5.275	U2AF2	Achchuthan Shanmugasundram Phenotypes for gene: U2AF2 were changed from neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071 to neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071
12 Sep 2023	Intellectual disability - microarray and sequencing v5.274	U2AF2	Achchuthan Shanmugasundram Publications for gene: U2AF2 were set to 28135719; 31785789; 33057194; 34112922; 36747105; 37092751; 37134193
12 Sep 2023	Intellectual disability - microarray and sequencing v5.275	U2AF2	Achchuthan Shanmugasundram Phenotypes for gene: U2AF2 were changed from neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071 to neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071
12 Sep 2023	Intellectual disability - microarray and sequencing v5.275	U2AF2	Achchuthan Shanmugasundram Phenotypes for gene: U2AF2 were changed from neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071 to neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071
12 Sep 2023	Intellectual disability - microarray and sequencing v5.274	U2AF2	Achchuthan Shanmugasundram Phenotypes for gene: U2AF2 were changed from neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071 to neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071
12 Sep 2023	Intellectual disability - microarray and sequencing v5.274	U2AF2	Achchuthan Shanmugasundram Phenotypes for gene: U2AF2 were changed from neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071 to neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071
12 Sep 2023	Intellectual disability - microarray and sequencing v5.274	U2AF2	Achchuthan Shanmugasundram Phenotypes for gene: U2AF2 were changed from Developmental disorders to neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071
12 Sep 2023	Intellectual disability - microarray and sequencing v5.274	U2AF2	Achchuthan Shanmugasundram Publications for gene: U2AF2 were set to 28135719; 31785789; 33057194; 34112922; 36747105; 37092751; 37134193
12 Sep 2023	Intellectual disability - microarray and sequencing v5.274	U2AF2	Achchuthan Shanmugasundram Publications for gene: U2AF2 were set to 28135719; 31785789; 33057194; 34112922; 36747105; 37092751; 37134193
12 Sep 2023	Intellectual disability - microarray and sequencing v5.274	U2AF2	Achchuthan Shanmugasundram Publications for gene: U2AF2 were set to 28135719; 31785789; 33057194; 34112922; 36747105; 37092751; 37134193
12 Sep 2023	Intellectual disability - microarray and sequencing v5.273	U2AF2	Achchuthan Shanmugasundram Publications for gene: U2AF2 were set to 28135719; 31785789; 33057194; 34112922; 36747105; 37092751; 37134193
12 Sep 2023	Intellectual disability - microarray and sequencing v5.273	U2AF2	Achchuthan Shanmugasundram Publications for gene: U2AF2 were set to 28135719; 31785789; 33057194; 34112922; 36747105; 37092751; 37134193
12 Sep 2023	Intellectual disability - microarray and sequencing v5.273	U2AF2	Achchuthan Shanmugasundram Publications for gene: U2AF2 were set to 33057194
12 Sep 2023	Intellectual disability - microarray and sequencing v5.272	U2AF2	Achchuthan Shanmugasundram edited their review of gene: U2AF2: Changed publications to: 28135719, 31785789, 33057194, 34112922, 36747105, 37092751, 37134193
12 Sep 2023	Intellectual disability - microarray and sequencing v5.272	U2AF2	Achchuthan Shanmugasundram Deleted their comment
12 Sep 2023	Intellectual disability - microarray and sequencing v5.272	U2AF2	Achchuthan Shanmugasundram Classified gene: U2AF2 as Amber List (moderate evidence)
12 Sep 2023	Intellectual disability - microarray and sequencing v5.272	U2AF2	Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Celia Duff, there is sufficient evidence (>3 unrelated cases) available for the association of this gene with global developmental delay, intellectual disability and epilepsy. Hence, this gene should be promoted to green rating at the next GMS review.
12 Sep 2023	Intellectual disability - microarray and sequencing v5.272	U2AF2	Achchuthan Shanmugasundram Gene: u2af2 has been classified as Amber List (Moderate Evidence).
12 Sep 2023	Intellectual disability - microarray and sequencing v5.272	U2AF2	Achchuthan Shanmugasundram Deleted their comment
12 Sep 2023	Intellectual disability - microarray and sequencing v5.272	U2AF2	Achchuthan Shanmugasundram Classified gene: U2AF2 as Amber List (moderate evidence)
12 Sep 2023	Intellectual disability - microarray and sequencing v5.272	U2AF2	Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Celia Duff, there is sufficient evidence (>3 unrelated cases) available for the association of this gene with global developmental delay, intellectual disability and epilepsy. Hence, this gene should be promoted to green rating at the next GMS review.
12 Sep 2023	Intellectual disability - microarray and sequencing v5.272	U2AF2	Achchuthan Shanmugasundram Gene: u2af2 has been classified as Amber List (Moderate Evidence).
12 Sep 2023	Intellectual disability - microarray and sequencing v5.272	U2AF2	Achchuthan Shanmugasundram Classified gene: U2AF2 as Amber List (moderate evidence)
12 Sep 2023	Intellectual disability - microarray and sequencing v5.272	U2AF2	Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Celia Duff, there is sufficient evidence (>3 unrelated cases) available for the association of this gene with global developmental delay, intellectual disability and epilepsy. Hence, this gene should be promoted to green rating at the next GMS review.
12 Sep 2023	Intellectual disability - microarray and sequencing v5.272	U2AF2	Achchuthan Shanmugasundram Gene: u2af2 has been classified as Amber List (Moderate Evidence).
12 Sep 2023	Intellectual disability - microarray and sequencing v5.271	U2AF2	Achchuthan Shanmugasundram reviewed gene: U2AF2: Rating: GREEN; Mode of pathogenicity: None; Publications: 28135719, 31785789, 34112922, 36747105, 37092751, 37134193; Phenotypes: neurodevelopmental disorder, MONDO:0700092, intellectual disability, MONDO:0001071; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
12 Sep 2023	Intellectual disability - microarray and sequencing v5.271	MT-ND4	Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-ND4.
12 Sep 2023	Intellectual disability - microarray and sequencing v5.271	MT-ND1	Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-ND1.
12 Sep 2023	Intellectual disability - microarray and sequencing v5.271	MT-ATP6	Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-ATP6.
07 Sep 2023	Intellectual disability - microarray and sequencing v5.271	PPP1R3F	Zornitza Stark gene: PPP1R3F was added gene: PPP1R3F was added to Intellectual disability - microarray and sequencing. Sources: Literature Mode of inheritance for gene: PPP1R3F was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: PPP1R3F were set to 37531237 Phenotypes for gene: PPP1R3F were set to Neurodevelopmental Disorder, MONDO:0700092,PPP1R3F-related Review for gene: PPP1R3F was set to GREEN Added comment: 13 unrelated hemizygous individuals reported with functional evidence Sources: Literature
07 Sep 2023	Intellectual disability - microarray and sequencing v5.271	RAB5C	Zornitza Stark gene: RAB5C was added gene: RAB5C was added to Intellectual disability - microarray and sequencing. Sources: Literature Mode of inheritance for gene: RAB5C was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: RAB5C were set to 37552066 Phenotypes for gene: RAB5C were set to Neurodevelopmental disorder MONDO:0700092, RAB5C-related Review for gene: RAB5C was set to GREEN Added comment: 12 individuals with nine different heterozygous de novo variants in RAB5C. 9 with missense, 1 inframe duplication and 2 stop-gains (clinically more severe). All have mild-severe ID, 4/12 have epilepsy, 6/12 have macrocephaly (more than 3 SD). Sources: Literature
05 Sep 2023	Intellectual disability - microarray and sequencing v5.271	NR2F2	Katherine Lachlan reviewed gene: NR2F2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 37500725; Phenotypes: intrauterine growth restriction (IUGR), CHD, CDH, genital anomalies, DSD, developmental delays, hypotonia, feeding difficulties, failure to thrive, congenital and acquired microcephaly, dysmorphic facial features, renal failure, hearing loss, strabismus, asplenia, vascular malformations; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
04 Sep 2023	Intellectual disability - microarray and sequencing v5.271	ATM	Zornitza Stark reviewed gene: ATM: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Ataxia-telangiectasia, MIM#208900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
01 Sep 2023	Intellectual disability - microarray and sequencing v5.271	ESAM	Julia Baptista gene: ESAM was added gene: ESAM was added to Intellectual disability - microarray and sequencing. Sources: Literature,Expert Review Mode of inheritance for gene: ESAM was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ESAM were set to PMID: 36996813 Phenotypes for gene: ESAM were set to severe ID; seizures, spasticity Review for gene: ESAM was set to GREEN Added comment: Lecca et al 2023 reported thirteen patients from eight unrelated families with biallelic loss of function variants (nonsense, frameshift, canonical splice site, all predicted to result in a transcript targeted for nonsense-mediated decay). Protein staining assays in one of the brain fetal samples confirmed loss the loss of protein. The phenotype reported in this cohort is of a severe neurodevelopmental disorder with brain anomalies (calcifications, hydrocephalus, enlarged ventricles, cerebral atrophy, etc), and dysmorphic features. Sources: Literature, Expert Review
31 Aug 2023	Intellectual disability - microarray and sequencing v5.271	TP63	Arina Puzriakova Phenotypes for gene: TP63 were changed from Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome; 3, 604292; Split-hand/foot malformation 4, 605289; Hay-Wells syndrome, 106260; ADULT syndrome, 103285; Limb-mammary syndrome, 603543; Rapp-Hodgkin syndrome, 129400; Orofacial cleft 8, 129400 to ADULT syndrome, OMIM:103285; Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3, OMIM:604292; Hay-Wells syndrome, OMIM:106260; Limb-mammary syndrome, OMIM:603543; Orofacial cleft 8, OMIM:618149; Rapp-Hodgkin syndrome, OMIM:129400; Split-hand/foot malformation 4, OMIM:605289
30 Aug 2023	Intellectual disability - microarray and sequencing v5.270	ERMARD	Achchuthan Shanmugasundram Deleted their comment
30 Aug 2023	Intellectual disability - microarray and sequencing v5.270	ERMARD	Achchuthan Shanmugasundram Classified gene: ERMARD as Red List (low evidence)
30 Aug 2023	Intellectual disability - microarray and sequencing v5.270	ERMARD	Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Arina Puzriakova, this gene has been demoted from amber to red.
30 Aug 2023	Intellectual disability - microarray and sequencing v5.270	ERMARD	Achchuthan Shanmugasundram Gene: ermard has been classified as Red List (Low Evidence).
30 Aug 2023	Intellectual disability - microarray and sequencing v5.270	ERMARD	Achchuthan Shanmugasundram Deleted their comment
30 Aug 2023	Intellectual disability - microarray and sequencing v5.270	ERMARD	Achchuthan Shanmugasundram Classified gene: ERMARD as Red List (low evidence)
30 Aug 2023	Intellectual disability - microarray and sequencing v5.270	ERMARD	Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Arina Puzriakova, this gene has been demoted from amber to red.
30 Aug 2023	Intellectual disability - microarray and sequencing v5.270	ERMARD	Achchuthan Shanmugasundram Gene: ermard has been classified as Red List (Low Evidence).
30 Aug 2023	Intellectual disability - microarray and sequencing v5.270	ERMARD	Achchuthan Shanmugasundram Deleted their comment
30 Aug 2023	Intellectual disability - microarray and sequencing v5.270	ERMARD	Achchuthan Shanmugasundram Deleted their comment
30 Aug 2023	Intellectual disability - microarray and sequencing v5.270	ERMARD	Achchuthan Shanmugasundram Classified gene: ERMARD as Red List (low evidence)
30 Aug 2023	Intellectual disability - microarray and sequencing v5.270	ERMARD	Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Arina Puzriakova, this gene has been demoted from amber to red.
30 Aug 2023	Intellectual disability - microarray and sequencing v5.270	ERMARD	Achchuthan Shanmugasundram Gene: ermard has been classified as Red List (Low Evidence).
30 Aug 2023	Intellectual disability - microarray and sequencing v5.269	ERMARD	Achchuthan Shanmugasundram Classified gene: ERMARD as Red List (low evidence)
30 Aug 2023	Intellectual disability - microarray and sequencing v5.269	ERMARD	Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Arina Puzriakova, this gene has been demoted to red.
30 Aug 2023	Intellectual disability - microarray and sequencing v5.269	ERMARD	Achchuthan Shanmugasundram Gene: ermard has been classified as Red List (Low Evidence).
30 Aug 2023	Intellectual disability - microarray and sequencing v5.269	ERMARD	Achchuthan Shanmugasundram Classified gene: ERMARD as Red List (low evidence)
30 Aug 2023	Intellectual disability - microarray and sequencing v5.269	ERMARD	Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Arina Puzriakova, this gene has been demoted to red.
30 Aug 2023	Intellectual disability - microarray and sequencing v5.269	ERMARD	Achchuthan Shanmugasundram Gene: ermard has been classified as Red List (Low Evidence).
30 Aug 2023	Intellectual disability - microarray and sequencing v5.268	U2AF2	celia duff changed review comment from: Literature evidence Ref1-5, identification of affected patients in the diagnostic setting (CVA database, 19:55661148:C>T ) and further accounts in open access databases (ClinVar and LOVD), make this gene suitable for clinical review and upgrading to a green gene status on relevant panels. It is associated with a phenotype encompassing dysmorphism, epilepsy, developmental delay, intellectual disability, and brain malformation Ref1-5. There is a recent publication that proposes an extension of this phenotype to include hypomyelination leukodystrophy Ref6. A loss of function mechanism has been suggested, associated with disruption of RNA recognition motifs required for the function of U2AF2 as a pre-mRNA splicing factor Ref4. At least one recurrent pathogenic variant has been identified by this review U2AF2 c.445C>T p.(Arg149Trp). U2AF2 is constrained for missense in gnomAD Z=4.71. total variants reported 1) De novo U2AF2 (NM_007279.3:c.445C>T p.(Arg149Trp)) recurrent variant; 1x patient in Hiraide (PubMed: 34112922), 1x patient in Kittock (PubMed: 37092751), 2x patients in Kaplanis (Pubmed: 33057194), 7x patients in the Leiden Open Variation Database (LOVD, https://www.lovd.nl/), 1x patient in house BGL and 4x additional on CVA 2) De novo U2AF2 c.603G>T; 1 patient in Wang 2023 (PubMed: 36747105) 3) De novo U2AF2 c.470C>T p.Pro157Leu) in Kuroda (PubMed: 37134193) 4) 9x additional pathogenic or likely pathogenic variants on LOVD 5) 2x additional likely pathogenic variants on ClinVar References 1. PubMed: 28135719 McRae (2017)-DDD data 2. PubMed: 31785789 Turner (2019)-DDD data 3. PubMed: 34112922 Hiraide (2021) de novo U2AF2 c.445C>T p.R149W 4. PubMed: 36747105 Wang (2023) de novo U2AF2 c.603G>T, p.163_201del 5. PubMed: 37092751 Kittock (2023) de novo U2AF2 c.445C>T p.R149W Possible emerging phenotype of hypomyelinating leukodystrophy 6. PubMed: 37134193 Kuroda (2023); to: Literature evidence Ref1-5, identification of affected patients in the diagnostic setting (CVA database, 19:55661148:C>T ) and further accounts in open access databases (ClinVar and LOVD), make this gene suitable for clinical review and upgrading to a green gene status on relevant panels. It is associated with a phenotype encompassing dysmorphism, epilepsy, developmental delay, intellectual disability, and brain malformation Ref1-5. There is a recent publication that proposes an extension of this phenotype to include hypomyelination leukodystrophy Ref6. A loss of function mechanism has been suggested, associated with disruption of RNA recognition motifs required for the function of U2AF2 as a pre-mRNA splicing factor Ref4. At least one recurrent pathogenic variant has been identified by this review U2AF2 c.445C>T p.(Arg149Trp). U2AF2 is constrained for missense in gnomAD Z=4.71. total variants/patients identified 1) De novo U2AF2 (NM_007279.3:c.445C>T p.(Arg149Trp)) recurrent variant; 1x patient in Hiraide (PubMed: 34112922), 1x patient in Kittock (PubMed: 37092751), 2x patients in Kaplanis (Pubmed: 33057194), 7x patients in the Leiden Open Variation Database (LOVD, https://www.lovd.nl/), 1x patient in house BGL and 4x additional on CVA 2) De novo U2AF2 c.603G>T; 1 patient in Wang 2023 (PubMed: 36747105) 3) De novo U2AF2 c.470C>T p.Pro157Leu) in Kuroda (PubMed: 37134193) 4) 9x additional pathogenic or likely pathogenic variants on LOVD 5) 2x additional likely pathogenic variants on ClinVar 6) We are collaborating with a researcher in the USA with a cohort of 40+ cases. References 1. PubMed: 28135719 McRae (2017)-DDD data 2. PubMed: 31785789 Turner (2019)-DDD data 3. PubMed: 34112922 Hiraide (2021) de novo U2AF2 c.445C>T p.R149W 4. PubMed: 36747105 Wang (2023) de novo U2AF2 c.603G>T, p.163_201del 5. PubMed: 37092751 Kittock (2023) de novo U2AF2 c.445C>T p.R149W Possible emerging phenotype of hypomyelinating leukodystrophy 6. PubMed: 37134193 Kuroda (2023)
30 Aug 2023	Intellectual disability - microarray and sequencing v5.268	U2AF2	celia duff reviewed gene: U2AF2: Rating: GREEN; Mode of pathogenicity: None; Publications: (PMID: 28135719):(PMID: 31785789):(PMID: 34112922):(PMID: 36747105):(PMID: 37092751):(PMID 37134193); Phenotypes: intellectual disability, global developmental delay, dysmorphism, epilepsy, brain malformation, microcephaly, possible emerging phenotype of hypomyelinating leukodystrophy.; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
29 Aug 2023	Intellectual disability - microarray and sequencing v5.268	NEUROG1	Achchuthan Shanmugasundram Deleted their comment
29 Aug 2023	Intellectual disability - microarray and sequencing v5.268	NEUROG1	Achchuthan Shanmugasundram Classified gene: NEUROG1 as Amber List (moderate evidence)
29 Aug 2023	Intellectual disability - microarray and sequencing v5.268	NEUROG1	Achchuthan Shanmugasundram Added comment: Comment on list classification: There are four unrelated cases reported with global developmental delay/ intellectual disability. Hence, this gene can be promoted to green rating in the next GMS review.
29 Aug 2023	Intellectual disability - microarray and sequencing v5.268	NEUROG1	Achchuthan Shanmugasundram Gene: neurog1 has been classified as Amber List (Moderate Evidence).
29 Aug 2023	Intellectual disability - microarray and sequencing v5.268	NEUROG1	Achchuthan Shanmugasundram Deleted their comment
29 Aug 2023	Intellectual disability - microarray and sequencing v5.268	NEUROG1	Achchuthan Shanmugasundram Classified gene: NEUROG1 as Amber List (moderate evidence)
29 Aug 2023	Intellectual disability - microarray and sequencing v5.268	NEUROG1	Achchuthan Shanmugasundram Added comment: Comment on list classification: There are four unrelated cases reported with global developmental delay/ intellectual disability. Hence, this gene can be promoted to green rating in the next GMS review.
29 Aug 2023	Intellectual disability - microarray and sequencing v5.268	NEUROG1	Achchuthan Shanmugasundram Gene: neurog1 has been classified as Amber List (Moderate Evidence).
29 Aug 2023	Intellectual disability - microarray and sequencing v5.268	NEUROG1	Achchuthan Shanmugasundram Classified gene: NEUROG1 as Amber List (moderate evidence)
29 Aug 2023	Intellectual disability - microarray and sequencing v5.268	NEUROG1	Achchuthan Shanmugasundram Added comment: Comment on list classification: There are four unrelated cases reported with global developmental delay/ intellectual disability. Hence, this gene can be promoted to green rating in the next GMS review.
29 Aug 2023	Intellectual disability - microarray and sequencing v5.268	NEUROG1	Achchuthan Shanmugasundram Gene: neurog1 has been classified as Amber List (Moderate Evidence).
29 Aug 2023	Intellectual disability - microarray and sequencing v5.267	NEUROG1	Achchuthan Shanmugasundram Publications for gene: NEUROG1 were set to 23419067; 26077850; 33439489; 36647078
29 Aug 2023	Intellectual disability - microarray and sequencing v5.267	NEUROG1	Achchuthan Shanmugasundram Publications for gene: NEUROG1 were set to 23419067; 26077850; 33439489; 36647078
29 Aug 2023	Intellectual disability - microarray and sequencing v5.267	NEUROG1	Achchuthan Shanmugasundram Publications for gene: NEUROG1 were set to 23419067; 26077850; 33439489; 36647078
29 Aug 2023	Intellectual disability - microarray and sequencing v5.267	NEUROG1	Achchuthan Shanmugasundram Publications for gene: NEUROG1 were set to 23419067; 26077850; 33439489; 36647078
29 Aug 2023	Intellectual disability - microarray and sequencing v5.266	NEUROG1	Achchuthan Shanmugasundram Phenotypes for gene: NEUROG1 were changed from Cranial dysinnervation disorder, congenital, with absent corneal reflex and developmental delay, OMIM:620469 to Cranial dysinnervation disorder, congenital, with absent corneal reflex and developmental delay, OMIM:620469
29 Aug 2023	Intellectual disability - microarray and sequencing v5.267	NEUROG1	Achchuthan Shanmugasundram Publications for gene: NEUROG1 were set to 23419067; 26077850; 33439489; 36647078
29 Aug 2023	Intellectual disability - microarray and sequencing v5.267	NEUROG1	Achchuthan Shanmugasundram Publications for gene: NEUROG1 were set to 23419067; 26077850; 33439489; 36647078
29 Aug 2023	Intellectual disability - microarray and sequencing v5.267	NEUROG1	Achchuthan Shanmugasundram Tag Q3_23_promote_green tag was added to gene: NEUROG1. Tag Q3_23_NHS_review tag was added to gene: NEUROG1.
29 Aug 2023	Intellectual disability - microarray and sequencing v5.267	NEUROG1	Achchuthan Shanmugasundram Publications for gene: NEUROG1 were set to 23419067; 26077850; 33439489; 36647078
29 Aug 2023	Intellectual disability - microarray and sequencing v5.267	NEUROG1	Achchuthan Shanmugasundram Publications for gene: NEUROG1 were set to 23419067; 26077850; 33439489; 36647078
29 Aug 2023	Intellectual disability - microarray and sequencing v5.267	NEUROG1	Achchuthan Shanmugasundram Publications for gene: NEUROG1 were set to 36647078; 33439489; 23419067; 26077850
29 Aug 2023	Intellectual disability - microarray and sequencing v5.266	NEUROG1	Achchuthan Shanmugasundram Phenotypes for gene: NEUROG1 were changed from Cranial dysinnervation disorder, congenital, with absent corneal reflex and developmental delay, OMIM:620469 to Cranial dysinnervation disorder, congenital, with absent corneal reflex and developmental delay, OMIM:620469
29 Aug 2023	Intellectual disability - microarray and sequencing v5.266	NEUROG1	Achchuthan Shanmugasundram Phenotypes for gene: NEUROG1 were changed from Cranial dysinnervation disorder, congenital, with absent corneal reflex and developmental delay, OMIM:620469 to Cranial dysinnervation disorder, congenital, with absent corneal reflex and developmental delay, OMIM:620469
29 Aug 2023	Intellectual disability - microarray and sequencing v5.266	NEUROG1	Achchuthan Shanmugasundram Phenotypes for gene: NEUROG1 were changed from Cranial dysinnervation disorder, congenital, with absent corneal reflex and developmental delay, OMIM:620469 to Cranial dysinnervation disorder, congenital, with absent corneal reflex and developmental delay, OMIM:620469
29 Aug 2023	Intellectual disability - microarray and sequencing v5.266	NEUROG1	Achchuthan Shanmugasundram Phenotypes for gene: NEUROG1 were changed from Cranial dysinnervation disorder, congenital, with absent corneal reflex and developmental delay, OMIM:620469 to Cranial dysinnervation disorder, congenital, with absent corneal reflex and developmental delay, OMIM:620469
29 Aug 2023	Intellectual disability - microarray and sequencing v5.265	NEUROG1	Achchuthan Shanmugasundram Phenotypes for gene: NEUROG1 were changed from Cranial dysinnervation disorder, congenital, with absent corneal reflex and developmental delay, OMIM:620469 to Cranial dysinnervation disorder, congenital, with absent corneal reflex and developmental delay, OMIM:620469
29 Aug 2023	Intellectual disability - microarray and sequencing v5.265	NEUROG1	Achchuthan Shanmugasundram Phenotypes for gene: NEUROG1 were changed from developmental delay; behavioural problems; cranial dysinnervation; absent corneal reflex to Cranial dysinnervation disorder, congenital, with absent corneal reflex and developmental delay, OMIM:620469
29 Aug 2023	Intellectual disability - microarray and sequencing v5.264	NEUROG1	Achchuthan Shanmugasundram reviewed gene: NEUROG1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23419067, 26077850, 33439489, 36647078; Phenotypes: Cranial dysinnervation disorder, congenital, with absent corneal reflex and developmental delay, OMIM:620469; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
24 Aug 2023	Intellectual disability - microarray and sequencing v5.264	CMIP	Sarah Leigh reviewed gene: CMIP: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
24 Aug 2023	Intellectual disability - microarray and sequencing v5.264	CMIP	Sarah Leigh Classified gene: CMIP as Red List (low evidence)
24 Aug 2023	Intellectual disability - microarray and sequencing v5.264	CMIP	Sarah Leigh Gene: cmip has been classified as Red List (Low Evidence).
24 Aug 2023	Intellectual disability - microarray and sequencing v5.263	UQCRB	Arina Puzriakova Phenotypes for gene: UQCRB were changed from Mitochondrial complex III deficiency, nuclear type 3, 615158 to Mitochondrial complex III deficiency, nuclear type 3, OMIM:615158
24 Aug 2023	Intellectual disability - microarray and sequencing v5.262	CMIP	Sarah Leigh Publications for gene: CMIP were set to PMID: 22689534; 28504353
23 Aug 2023	Intellectual disability - microarray and sequencing v5.261	ATP6V0C	Achchuthan Shanmugasundram Deleted their comment
23 Aug 2023	Intellectual disability - microarray and sequencing v5.261	ATP6V0C	Achchuthan Shanmugasundram Classified gene: ATP6V0C as Amber List (moderate evidence)
23 Aug 2023	Intellectual disability - microarray and sequencing v5.261	ATP6V0C	Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available (17 unrelated cases) for this gene to be promoted to green rating in the next GMS review.
23 Aug 2023	Intellectual disability - microarray and sequencing v5.261	ATP6V0C	Achchuthan Shanmugasundram Gene: atp6v0c has been classified as Amber List (Moderate Evidence).
23 Aug 2023	Intellectual disability - microarray and sequencing v5.261	ATP6V0C	Achchuthan Shanmugasundram Deleted their comment
23 Aug 2023	Intellectual disability - microarray and sequencing v5.261	ATP6V0C	Achchuthan Shanmugasundram changed review comment from: Comment on list classification: There is sufficient evidence available (17 unrelated cases) for this gene to be promoted to green rating in the next GMS review.; to: Comment on list classification: There is sufficient evidence available (17 unrelated cases) for this gene to be promoted to green rating in the next GMS review.
23 Aug 2023	Intellectual disability - microarray and sequencing v5.261	ATP6V0C	Achchuthan Shanmugasundram Classified gene: ATP6V0C as Amber List (moderate evidence)
23 Aug 2023	Intellectual disability - microarray and sequencing v5.261	ATP6V0C	Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available (17 unrelated cases) for this gene to be promoted to green rating in the next GMS review.
23 Aug 2023	Intellectual disability - microarray and sequencing v5.261	ATP6V0C	Achchuthan Shanmugasundram Gene: atp6v0c has been classified as Amber List (Moderate Evidence).
23 Aug 2023	Intellectual disability - microarray and sequencing v5.261	ATP6V0C	Achchuthan Shanmugasundram Classified gene: ATP6V0C as Amber List (moderate evidence)
23 Aug 2023	Intellectual disability - microarray and sequencing v5.261	ATP6V0C	Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available (17 unrelated cases) for this gene to be promoted to green rating in the next GMS review.
23 Aug 2023	Intellectual disability - microarray and sequencing v5.261	ATP6V0C	Achchuthan Shanmugasundram Gene: atp6v0c has been classified as Amber List (Moderate Evidence).
23 Aug 2023	Intellectual disability - microarray and sequencing v5.260	ATP6V0C	Achchuthan Shanmugasundram Phenotypes for gene: ATP6V0C were changed from Epilepsy, early-onset, 3, with or without developmental delay, OMIM:620465 to Epilepsy, early-onset, 3, with or without developmental delay, OMIM:620465
23 Aug 2023	Intellectual disability - microarray and sequencing v5.260	ATP6V0C	Achchuthan Shanmugasundram Phenotypes for gene: ATP6V0C were changed from Epilepsy, early-onset, 3, with or without developmental delay, OMIM:620465 to Epilepsy, early-onset, 3, with or without developmental delay, OMIM:620465
23 Aug 2023	Intellectual disability - microarray and sequencing v5.261	ATP6V0C	Achchuthan Shanmugasundram Phenotypes for gene: ATP6V0C were changed from Epilepsy, early-onset, 3, with or without developmental delay, OMIM:620465 to Epilepsy, early-onset, 3, with or without developmental delay, OMIM:620465
23 Aug 2023	Intellectual disability - microarray and sequencing v5.261	ATP6V0C	Achchuthan Shanmugasundram Phenotypes for gene: ATP6V0C were changed from Epilepsy, early-onset, 3, with or without developmental delay, OMIM:620465 to Epilepsy, early-onset, 3, with or without developmental delay, OMIM:620465
23 Aug 2023	Intellectual disability - microarray and sequencing v5.261	ATP6V0C	Achchuthan Shanmugasundram Phenotypes for gene: ATP6V0C were changed from Epilepsy, early-onset, 3, with or without developmental delay, OMIM:620465 to Epilepsy, early-onset, 3, with or without developmental delay, OMIM:620465
23 Aug 2023	Intellectual disability - microarray and sequencing v5.261	ATP6V0C	Achchuthan Shanmugasundram Phenotypes for gene: ATP6V0C were changed from Epilepsy, early-onset, 3, with or without developmental delay, OMIM:620465 to Epilepsy, early-onset, 3, with or without developmental delay, OMIM:620465
23 Aug 2023	Intellectual disability - microarray and sequencing v5.260	ATP6V0C	Achchuthan Shanmugasundram Phenotypes for gene: ATP6V0C were changed from Epilepsy, early-onset, 3, with or without developmental delay, OMIM:620465 to Epilepsy, early-onset, 3, with or without developmental delay, OMIM:620465
23 Aug 2023	Intellectual disability - microarray and sequencing v5.260	ATP6V0C	Achchuthan Shanmugasundram Tag watchlist was removed from gene: ATP6V0C. Tag Q3_23_promote_green tag was added to gene: ATP6V0C. Tag Q3_23_NHS_review tag was added to gene: ATP6V0C.
23 Aug 2023	Intellectual disability - microarray and sequencing v5.260	ATP6V0C	Achchuthan Shanmugasundram Publications for gene: ATP6V0C were set to 24623842; 33090716; 33190975; 36074901; 37161035
23 Aug 2023	Intellectual disability - microarray and sequencing v5.260	ATP6V0C	Achchuthan Shanmugasundram Phenotypes for gene: ATP6V0C were changed from Epilepsy; Intellectual Disability; microcephaly to Epilepsy, early-onset, 3, with or without developmental delay, OMIM:620465
23 Aug 2023	Intellectual disability - microarray and sequencing v5.260	ATP6V0C	Achchuthan Shanmugasundram Publications for gene: ATP6V0C were set to 24623842; 33090716; 33190975; 36074901; 37161035
23 Aug 2023	Intellectual disability - microarray and sequencing v5.260	ATP6V0C	Achchuthan Shanmugasundram Publications for gene: ATP6V0C were set to 24623842; 33090716; 33190975; 36074901; 37161035
23 Aug 2023	Intellectual disability - microarray and sequencing v5.259	ATP6V0C	Achchuthan Shanmugasundram Publications for gene: ATP6V0C were set to 24623842; 33090716; 33190975; 36074901; 37161035
23 Aug 2023	Intellectual disability - microarray and sequencing v5.259	ATP6V0C	Achchuthan Shanmugasundram Publications for gene: ATP6V0C were set to 24623842; 33190975; 33090716; 36074901; 37161035
23 Aug 2023	Intellectual disability - microarray and sequencing v5.258	ATP6V0C	Achchuthan Shanmugasundram Publications for gene: ATP6V0C were set to 24623842; 33190975; 33090716; 36074901; 37161035
23 Aug 2023	Intellectual disability - microarray and sequencing v5.258	ATP6V0C	Achchuthan Shanmugasundram Publications for gene: ATP6V0C were set to 33190975; 33090716
23 Aug 2023	Intellectual disability - microarray and sequencing v5.257	ATP6V0C	Achchuthan Shanmugasundram edited their review of gene: ATP6V0C: Changed publications to: 24623842, 33190975, 36074901, 37161035
23 Aug 2023	Intellectual disability - microarray and sequencing v5.257	ATP6V0C	Achchuthan Shanmugasundram changed review comment from: 17 of 32 total patients had impaired intellectual development.; to: PMID:36074901 - 16 of 27 patients identified with monoallelic ATP6V0C variants, including a patient each from PMID:24623842 and PMID:33190975 had impaired intellectual development, while 21 patients had developmental delay. PMID:37161035 - One of three patients identified with monoallelic ATP6V0C variant had impaired intellectual development and language delay, while another had developmental delay and speech delay. This gene has been associated with relevant phenotypes in OMIM (MIM #620465) and Gene2Phenotype (with 'strong' rating in the DD panel).
23 Aug 2023	Intellectual disability - microarray and sequencing v5.257	ATP6V0C	Achchuthan Shanmugasundram edited their review of gene: ATP6V0C: Changed publications to: 24623842, 33190975, 35600075, 36074901, 37161035
23 Aug 2023	Intellectual disability - microarray and sequencing v5.257	ATP6V0C	Achchuthan Shanmugasundram reviewed gene: ATP6V0C: Rating: GREEN; Mode of pathogenicity: None; Publications: 33190975, 35600075, 36074901, 37161035; Phenotypes: Epilepsy, early-onset, 3, with or without developmental delay, OMIM:620465; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
22 Aug 2023	Intellectual disability - microarray and sequencing v5.257	PTCH1	Arina Puzriakova Phenotypes for gene: PTCH1 were changed from Basal cell nevus syndrome, 109400Basal cell carcinoma, somatic, 605462Holoprosencephaly-7, 610828; HOLOPROSENCEPHALY-7 to Holoprosencephaly 7, OMIM:610828
21 Aug 2023	Intellectual disability - microarray and sequencing v5.256	NEUROG1	Julia Baptista gene: NEUROG1 was added gene: NEUROG1 was added to Intellectual disability - microarray and sequencing. Sources: Literature Mode of inheritance for gene: NEUROG1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NEUROG1 were set to 36647078; 33439489; 23419067; 26077850 Phenotypes for gene: NEUROG1 were set to developmental delay; behavioural problems; cranial dysinnervation; absent corneal reflex Review for gene: NEUROG1 was set to GREEN Added comment: Five affected individuals from four independently reported families (Middle Eastern, Portuguese, Indian and Turkish backgrounds) with biallelic microdeletion, missense, nonsense or frameshift variants. Affected individuals present at birth or in early infancy with corneal opacities due to absent blinking, sensorineural deafness associated with hypoplastic or malformed cochlea and hypoplasia or agenesis of CN VIII was reported. Developmental delay, poor speech, autistic behavior and dysmorphic facial features were also present. Sources: Literature
21 Aug 2023	Intellectual disability - microarray and sequencing v5.256	ATP6V0C	Julia Baptista reviewed gene: ATP6V0C: Rating: GREEN; Mode of pathogenicity: None; Publications: 36074901; Phenotypes: Epilepsy, Intellectual Disability, Microcephaly; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
17 Aug 2023	Intellectual disability - microarray and sequencing v5.256	DNAH14	Sarah Leigh Publications for gene: DNAH14 were set to 35438214
17 Aug 2023	Intellectual disability - microarray and sequencing v5.256	DNAH14	Sarah Leigh Classified gene: DNAH14 as Red List (low evidence)
17 Aug 2023	Intellectual disability - microarray and sequencing v5.256	DNAH14	Sarah Leigh Gene: dnah14 has been classified as Red List (Low Evidence).
17 Aug 2023	Intellectual disability - microarray and sequencing v5.255	DNAH14	Sarah Leigh reviewed gene: DNAH14: Rating: RED; Mode of pathogenicity: None; Publications: 26036949, 30125339, 26636390, 32848021; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
16 Aug 2023	Intellectual disability - microarray and sequencing v5.255	FAM111A	Tracy Lester reviewed gene: FAM111A: Rating: RED; Mode of pathogenicity: None; Publications: 23684011, 37023242; Phenotypes: Skeletal dysplasia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
16 Aug 2023	Intellectual disability - microarray and sequencing v5.255	CMIP	Tord Jonson edited their review of gene: CMIP: Changed phenotypes to: HP:0012759 Neurodevelopmental abnormality, HP:0000717 Autism, HP:0007018 Attention deficit hyperactivity disorder, HP:0001250 Seizure, HP:0011471 Gastrostomy tube feeding in infancy
16 Aug 2023	Intellectual disability - microarray and sequencing v5.255	CMIP	Tord Jonson changed review comment from: CMIP (MANE Select NM_198390) loss of function-variants (deletions) have been reported in two studies that describes patients with syndromic ASD and co-morbid gastrointestinal issues. See Van der Aa et al., 2012, Haploinsufficiency of CMIP in a girl with autism spectrum disorder and developmental delay due to a de novo deletion on chromosome 16q23.2 (PMID: 22689534); and Luo et al., 2017, CMIP haploinsufficiency in two patients with autism spectrum disorder and co-occurring gastrointestinal issues (PMID: 28504353). In addition, we have observed a local case with a de novo deletion encompassing only the genes CMIP and GAN in a patient with gastrostomy, intellectual disability, autism, ADHD and seizures. Sources: Other; to: CMIP (MANE Select NM_198390) loss of function-variants (deletions) have been reported in two studies that describes patients with syndromic ASD and co-morbid gastrointestinal issues. See Van der Aa et al., 2012, Haploinsufficiency of CMIP in a girl with autism spectrum disorder and developmental delay due to a de novo deletion on chromosome 16q23.2 (PMID: 22689534); and Luo et al., 2017, CMIP haploinsufficiency in two patients with autism spectrum disorder and co-occurring gastrointestinal issues (PMID: 28504353). In addition, we have observed a local case with a de novo deletion encompassing only the genes CMIP and GAN in a patient with gastrostomy, intellectual disability, autism, ADHD and seizures.
16 Aug 2023	Intellectual disability - microarray and sequencing v5.255	CMIP	Tord Jonson gene: CMIP was added gene: CMIP was added to Intellectual disability - microarray and sequencing. Sources: Other Mode of inheritance for gene: CMIP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CMIP were set to PMID: 22689534; 28504353 Phenotypes for gene: CMIP were set to HP:0012759; HP:0000717; HP:0007018; HP:0001250; HP:0011471 Penetrance for gene: CMIP were set to unknown Review for gene: CMIP was set to GREEN gene: CMIP was marked as current diagnostic Added comment: CMIP (MANE Select NM_198390) loss of function-variants (deletions) have been reported in two studies that describes patients with syndromic ASD and co-morbid gastrointestinal issues. See Van der Aa et al., 2012, Haploinsufficiency of CMIP in a girl with autism spectrum disorder and developmental delay due to a de novo deletion on chromosome 16q23.2 (PMID: 22689534); and Luo et al., 2017, CMIP haploinsufficiency in two patients with autism spectrum disorder and co-occurring gastrointestinal issues (PMID: 28504353). In addition, we have observed a local case with a de novo deletion encompassing only the genes CMIP and GAN in a patient with gastrostomy, intellectual disability, autism, ADHD and seizures. Sources: Other
15 Aug 2023	Intellectual disability - microarray and sequencing v5.255	PABPC1	Sarah Leigh Tag Q3_23_phenotype tag was added to gene: PABPC1.
15 Aug 2023	Intellectual disability - microarray and sequencing v5.255	PABPC1	Sarah Leigh edited their review of gene: PABPC1: Added comment: PABPC1 variants have not been associated with a phenotype in OMIM, Gen2Phen or MONDO. PMID: 35511136 reports four de novo PABPC1 variants in four unrelated cases with a phenotype of global DD, movement coordination disorders, seizures, behavioral disorders and mild facial dysmorphisms. Intellectual disability ranged in the cases from profound (1/4), IQ: 61 (1/4) and IQ: 79 (2/4). Seizures were apparent in the all of the three cases where it was assessed. Molecular modeling of the variants suggested that they would result in a reduced binding affinity to the messenger RNA metabolism-related protein - PAIP2. This predicted effect was seen in coimmunoprecipitation assays between variant PABPC1 and PAIP2 (PMID: 35511136). Further functional studies in PMID: 35511136, showed that the proliferation of neural progenitor cells in Pabpc1 knockdown mouse embryo brains were decreased, this effect was rescued by the wild-type Pabpc1, but not by the variants c.1691A>G (p.Glu564Gly) or c.1709T>C (p.Ile570Thr). Other variants were identified in 3/4 cases in PMID: 35511136, two of these had a ACMG VUS classification (RBBP4: c.845A>G, p.(Asn282Ser), IGF2R: c.1850G>A p.Cys617Tyr), while the third variant was monoallelic, whereas bialleic variants in this gene are associated with disease (KDM5B: c.2265dupA, p.(Tyr755*))(PMID: 35511136, table 1).; Changed rating: GREEN
15 Aug 2023	Intellectual disability - microarray and sequencing v5.255	PABPC1	Sarah Leigh Tag Q3_23_promote_green tag was added to gene: PABPC1. Tag Q3_23_MOI tag was added to gene: PABPC1.
15 Aug 2023	Intellectual disability - microarray and sequencing v5.255	PABPC1	Sarah Leigh Classified gene: PABPC1 as Amber List (moderate evidence)
15 Aug 2023	Intellectual disability - microarray and sequencing v5.255	PABPC1	Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
15 Aug 2023	Intellectual disability - microarray and sequencing v5.255	PABPC1	Sarah Leigh Gene: pabpc1 has been classified as Amber List (Moderate Evidence).
10 Aug 2023	Intellectual disability - microarray and sequencing v5.254	CLCNKA	Sarah Leigh Phenotypes for gene: CLCNKA were changed from Bartter syndrome, type 4b, digenic, 613090; Infantile Bartter syndrome with sensorineural deafness, intellectual disability to Bartter syndrome, type 4b, digenic, OMIM:613090; Bartter disease type 4B, MONDO:0000909
10 Aug 2023	Intellectual disability - microarray and sequencing v5.253	CLCNKA	Sarah Leigh Publications for gene: CLCNKA were set to
10 Aug 2023	Intellectual disability - microarray and sequencing v5.253	CLCNKA	Sarah Leigh Added comment: Comment on mode of inheritance: Digenic CLCNKA & CLCNKB variants are associated with Bartter syndrome, type 4b, digenic (OMIM:613090)(PMID: 15044642;18310267;32488762). The current GMS rare disease bioinformatic pipeline does not allow for interpretation of digenic events.
10 Aug 2023	Intellectual disability - microarray and sequencing v5.253	CLCNKA	Sarah Leigh Mode of inheritance for gene: CLCNKA was changed from to Other
10 Aug 2023	Intellectual disability - microarray and sequencing v5.252	CLCNKB	Sarah Leigh Added comment: Comment on mode of inheritance: The mode of inheritance for CLCNKB should be BIALLELIC, autosomal or pseudoautosomal. Although digenic CLCNKB & CLCNKA variants are associated with Bartter syndrome, type 4b, digenic (OMIM:613090), the current GMS rare disease bioinformatic pipeline does not allow for interpretation of digenic events.
10 Aug 2023	Intellectual disability - microarray and sequencing v5.252	CLCNKB	Sarah Leigh Mode of inheritance for gene: CLCNKB was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
10 Aug 2023	Intellectual disability - microarray and sequencing v5.251	CLCNKB	Sarah Leigh Tag digenic was removed from gene: CLCNKB. Tag monogenic-polygenic tag was added to gene: CLCNKB.
09 Aug 2023	Intellectual disability - microarray and sequencing v5.251	MKL2	Achchuthan Shanmugasundram Deleted their comment
09 Aug 2023	Intellectual disability - microarray and sequencing v5.251	MKL2	Achchuthan Shanmugasundram Classified gene: MKL2 as Amber List (moderate evidence)
09 Aug 2023	Intellectual disability - microarray and sequencing v5.251	MKL2	Achchuthan Shanmugasundram Added comment: Comment on list classification: As there are only two unrelated cases reported so far, this gene should be rated amber for now.
09 Aug 2023	Intellectual disability - microarray and sequencing v5.251	MKL2	Achchuthan Shanmugasundram Gene: mkl2 has been classified as Amber List (Moderate Evidence).
09 Aug 2023	Intellectual disability - microarray and sequencing v5.250	MKL2	Achchuthan Shanmugasundram Phenotypes for gene: MKL2 were changed from neurodevelopmental disorder, MONDO:0700092 to neurodevelopmental disorder, MONDO:0700092
09 Aug 2023	Intellectual disability - microarray and sequencing v5.250	MKL2	Achchuthan Shanmugasundram Phenotypes for gene: MKL2 were changed from neurodevelopmental disorder, MONDO:0700092 to neurodevelopmental disorder, MONDO:0700092
09 Aug 2023	Intellectual disability - microarray and sequencing v5.250	MKL2	Achchuthan Shanmugasundram Phenotypes for gene: MKL2 were changed from neurodevelopmental disorder, MONDO:0700092 to neurodevelopmental disorder, MONDO:0700092
09 Aug 2023	Intellectual disability - microarray and sequencing v5.249	MKL2	Achchuthan Shanmugasundram Phenotypes for gene: MKL2 were changed from neurodevelopmental disorder, MONDO:0700092 to neurodevelopmental disorder, MONDO:0700092
09 Aug 2023	Intellectual disability - microarray and sequencing v5.249	MKL2	Achchuthan Shanmugasundram Phenotypes for gene: MKL2 were changed from neurodevelopmental phenotype with dysmorphic features to neurodevelopmental disorder, MONDO:0700092
09 Aug 2023	Intellectual disability - microarray and sequencing v5.249	MKL2	Achchuthan Shanmugasundram Publications for gene: MKL2 were set to 37013900
09 Aug 2023	Intellectual disability - microarray and sequencing v5.249	MKL2	Achchuthan Shanmugasundram Publications for gene: MKL2 were set to 37013900
09 Aug 2023	Intellectual disability - microarray and sequencing v5.248	MKL2	Achchuthan Shanmugasundram Publications for gene: MKL2 were set to 37013900
09 Aug 2023	Intellectual disability - microarray and sequencing v5.248	MKL2	Achchuthan Shanmugasundram Publications for gene: MKL2 were set to PMID:37013900
09 Aug 2023	Intellectual disability - microarray and sequencing v5.247	MKL2	Achchuthan Shanmugasundram commented on gene: MKL2: PMID:37013900 - Two unrelated paediatric cases with de novo variants in MKL2 gene (p.Arg103Gly & p.Ala91Pro) were reported with mild dysmorphic features, severe intellectual disability, global developmental delays, speech apraxia, and impulse control issues. Functional studies in a Drosophila model suggest a gain of function disease mechanism.
09 Aug 2023	Intellectual disability - microarray and sequencing v5.247	MKL2	Achchuthan Shanmugasundram reviewed gene: MKL2: 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: 37013900; Phenotypes: neurodevelopmental disorder, MONDO:0700092; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
09 Aug 2023	Intellectual disability - microarray and sequencing v5.247	ATG4D	Achchuthan Shanmugasundram Classified gene: ATG4D as Amber List (moderate evidence)
09 Aug 2023	Intellectual disability - microarray and sequencing v5.247	ATG4D	Achchuthan Shanmugasundram Added comment: Comment on list classification: There are two unrelated cases with mild cognitive impairment and hence this gene should be rated amber with the current evidence.
09 Aug 2023	Intellectual disability - microarray and sequencing v5.247	ATG4D	Achchuthan Shanmugasundram Gene: atg4d has been classified as Amber List (Moderate Evidence).
09 Aug 2023	Intellectual disability - microarray and sequencing v5.246	ATG4D	Achchuthan Shanmugasundram changed review comment from: PMID:36765070 - Three individuals from two different families were reported with a neurodevelopmental disorder and identified with compound heterozygous variants in ATG4D gene (family 1: :c.266G>A/ p.Ser89Asn & c.839A>G/ p.Tyr280Cys; family 2: c.1310_1328del/ p.Asp437Alafs37 & c.1066G>A/ p.Asp356Asn). Patient from family 1 and one of two patients from family 2 had mild cognitive impairment. This gene has been associated with relevant phenotypes in Gene2Phenotype (with 'limited' rating in the DD panel), but not yet in OMIM.; to: PMID:36765070 - Three individuals from two different families were reported with a neurodevelopmental disorder and identified with compound heterozygous variants in ATG4D gene (family 1: :c.266G>A/ p.Ser89Asn & c.839A>G/ p.Tyr280Cys; family 2: c.1310_1328del/ p.Asp437Alafs37 & c.1066G>A/ p.Asp356Asn). Patient from family 1 and one of two patients from family 2 had mild cognitive impairment. Based on the clinical, bioinformatic, and functional data, the authors also concluded that bi-allelic loss-of-function variants in ATG4D contribute to the pathogenesis of syndromic neurodevelopmental disorder. This gene has been associated with relevant phenotypes in Gene2Phenotype (with 'limited' rating in the DD panel), but not yet in OMIM.
09 Aug 2023	Intellectual disability - microarray and sequencing v5.246	ATG4D	Achchuthan Shanmugasundram changed review comment from: PMID:36765070 - Three individuals from two different families were reported with a neurodevelopmental disorder and identified with compound heterozygous variants in ATG4D gene (family 1: :c.266G>A/ p.Ser89Asn & c.839A>G/ p.Tyr280Cys; family 2: c.1310_1328del/ p.Asp437Alafs37 & c.1066G>A/ p.Asp356Asn). Patient from family 1 and one of two patients from family 2 had cognitive impairment. This gene has been associated with relevant phenotypes in Gene2Phenotype (with 'limited' rating in the DD panel), but not yet in OMIM.; to: PMID:36765070 - Three individuals from two different families were reported with a neurodevelopmental disorder and identified with compound heterozygous variants in ATG4D gene (family 1: :c.266G>A/ p.Ser89Asn & c.839A>G/ p.Tyr280Cys; family 2: c.1310_1328del/ p.Asp437Alafs37 & c.1066G>A/ p.Asp356Asn). Patient from family 1 and one of two patients from family 2 had mild cognitive impairment. This gene has been associated with relevant phenotypes in Gene2Phenotype (with 'limited' rating in the DD panel), but not yet in OMIM.
09 Aug 2023	Intellectual disability - microarray and sequencing v5.246	ATG4D	Achchuthan Shanmugasundram Phenotypes for gene: ATG4D were changed from neurodevelopmental disorder, MONDO:0700092 to neurodevelopmental disorder, MONDO:0700092
09 Aug 2023	Intellectual disability - microarray and sequencing v5.246	ATG4D	Achchuthan Shanmugasundram Phenotypes for gene: ATG4D were changed from neurodevelopmental disorder characterized by speech and motor impairment to neurodevelopmental disorder, MONDO:0700092
09 Aug 2023	Intellectual disability - microarray and sequencing v5.245	ATG4D	Achchuthan Shanmugasundram edited their review of gene: ATG4D: Changed rating: AMBER; Changed publications to: 36765070; Changed phenotypes to: neurodevelopmental disorder, MONDO:0700092; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
09 Aug 2023	Intellectual disability - microarray and sequencing v5.245	AKT3	Arina Puzriakova Phenotypes for gene: AKT3 were changed from Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome, 603387; HEMIMEGALENCEPHALY AKT3 to Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, OMIM:615937
09 Aug 2023	Intellectual disability - microarray and sequencing v5.244	ATG4D	Achchuthan Shanmugasundram commented on gene: ATG4D
09 Aug 2023	Intellectual disability - microarray and sequencing v5.244	PSMC3	Achchuthan Shanmugasundram Deleted their comment
09 Aug 2023	Intellectual disability - microarray and sequencing v5.244	PSMC3	Achchuthan Shanmugasundram Deleted their comment
09 Aug 2023	Intellectual disability - microarray and sequencing v5.244	PSMC3	Achchuthan Shanmugasundram Classified gene: PSMC3 as Amber List (moderate evidence)
09 Aug 2023	Intellectual disability - microarray and sequencing v5.244	PSMC3	Achchuthan Shanmugasundram Added comment: Comment on list classification: This gene can be promoted to green rating at the next GMS review.
09 Aug 2023	Intellectual disability - microarray and sequencing v5.244	PSMC3	Achchuthan Shanmugasundram Gene: psmc3 has been classified as Amber List (Moderate Evidence).
09 Aug 2023	Intellectual disability - microarray and sequencing v5.243	PSMC3	Achchuthan Shanmugasundram Added comment: Comment on mode of inheritance: There is sufficient evidence for the association of monoallelic variants from this gene with intellectual disability. However, there is only one family reported with biallelic variants. Hence, the MOI is set as "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted".
09 Aug 2023	Intellectual disability - microarray and sequencing v5.243	PSMC3	Achchuthan Shanmugasundram Mode of inheritance for gene: PSMC3 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
09 Aug 2023	Intellectual disability - microarray and sequencing v5.243	PSMC3	Achchuthan Shanmugasundram Added comment: Comment on mode of inheritance: There is sufficient evidence for the association of monoallelic variants from this gene with intellectual disability. However, there is only one family reported with biallelic variants. Hence, the MOI is set as "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted".
09 Aug 2023	Intellectual disability - microarray and sequencing v5.243	PSMC3	Achchuthan Shanmugasundram Mode of inheritance for gene: PSMC3 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
09 Aug 2023	Intellectual disability - microarray and sequencing v5.243	PSMC3	Achchuthan Shanmugasundram Added comment: Comment on mode of inheritance: There is sufficient evidence for the association of monoallelic variants from this gene with intellectual disability. However, there is only one family reported with biallelic variants. Hence, the MOI is set as "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted".
09 Aug 2023	Intellectual disability - microarray and sequencing v5.243	PSMC3	Achchuthan Shanmugasundram Mode of inheritance for gene: PSMC3 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
09 Aug 2023	Intellectual disability - microarray and sequencing v5.242	PSMC3	Achchuthan Shanmugasundram Phenotypes for gene: PSMC3 were changed from ?Deafness, cataract, impaired intellectual development, and polyneuropathy, OMIM:619354; neurodevelopmental disorder, MONDO:0700092 to ?Deafness, cataract, impaired intellectual development, and polyneuropathy, OMIM:619354; neurodevelopmental disorder, MONDO:0700092
09 Aug 2023	Intellectual disability - microarray and sequencing v5.242	PSMC3	Achchuthan Shanmugasundram Phenotypes for gene: PSMC3 were changed from ?Deafness, cataract, impaired intellectual development, and polyneuropathy, OMIM:619354; neurodevelopmental disorder, MONDO:0700092 to ?Deafness, cataract, impaired intellectual development, and polyneuropathy, OMIM:619354; neurodevelopmental disorder, MONDO:0700092
09 Aug 2023	Intellectual disability - microarray and sequencing v5.242	PSMC3	Achchuthan Shanmugasundram Phenotypes for gene: PSMC3 were changed from ?Deafness, cataract, impaired intellectual development, and polyneuropathy, OMIM:619354; neurodevelopmental disorder, MONDO:0700092 to ?Deafness, cataract, impaired intellectual development, and polyneuropathy, OMIM:619354; neurodevelopmental disorder, MONDO:0700092
09 Aug 2023	Intellectual disability - microarray and sequencing v5.242	PSMC3	Achchuthan Shanmugasundram Phenotypes for gene: PSMC3 were changed from ?Deafness, cataract, impaired intellectual development, and polyneuropathy, OMIM:619354; neurodevelopmental disorder, MONDO:0700092 to ?Deafness, cataract, impaired intellectual development, and polyneuropathy, OMIM:619354; neurodevelopmental disorder, MONDO:0700092
09 Aug 2023	Intellectual disability - microarray and sequencing v5.242	PSMC3	Achchuthan Shanmugasundram Phenotypes for gene: PSMC3 were changed from ?Deafness, cataract, impaired intellectual development, and polyneuropathy, OMIM:619354; neurodevelopmental disorder, MONDO:0700092 to ?Deafness, cataract, impaired intellectual development, and polyneuropathy, OMIM:619354; neurodevelopmental disorder, MONDO:0700092
09 Aug 2023	Intellectual disability - microarray and sequencing v5.242	PSMC3	Achchuthan Shanmugasundram Tag Q3_23_promote_green tag was added to gene: PSMC3.
09 Aug 2023	Intellectual disability - microarray and sequencing v5.242	PSMC3	Achchuthan Shanmugasundram Phenotypes for gene: PSMC3 were changed from ?Deafness, cataract, impaired intellectual development, and polyneuropathy, OMIM:619354; neurodevelopmental disorder, MONDO:0700092 to ?Deafness, cataract, impaired intellectual development, and polyneuropathy, OMIM:619354; neurodevelopmental disorder, MONDO:0700092
09 Aug 2023	Intellectual disability - microarray and sequencing v5.242	PSMC3	Achchuthan Shanmugasundram Phenotypes for gene: PSMC3 were changed from ?Deafness, cataract, impaired intellectual development, and polyneuropathy, OMIM:619354; neurodevelopmental disorder, MONDO:0700092 to ?Deafness, cataract, impaired intellectual development, and polyneuropathy, OMIM:619354; neurodevelopmental disorder, MONDO:0700092
09 Aug 2023	Intellectual disability - microarray and sequencing v5.242	PSMC3	Achchuthan Shanmugasundram Phenotypes for gene: PSMC3 were changed from ?Deafness, cataract, impaired intellectual development, and polyneuropathy, OMIM:619354; neurodevelopmental disorder, MONDO:0700092 to ?Deafness, cataract, impaired intellectual development, and polyneuropathy, OMIM:619354; neurodevelopmental disorder, MONDO:0700092
09 Aug 2023	Intellectual disability - microarray and sequencing v5.242	PSMC3	Achchuthan Shanmugasundram Phenotypes for gene: PSMC3 were changed from ?Deafness, cataract, impaired intellectual development, and polyneuropathy, OMIM:619354; neurodevelopmental disorder, MONDO:0700092 to ?Deafness, cataract, impaired intellectual development, and polyneuropathy, OMIM:619354; neurodevelopmental disorder, MONDO:0700092
09 Aug 2023	Intellectual disability - microarray and sequencing v5.241	PSMC3	Achchuthan Shanmugasundram Phenotypes for gene: PSMC3 were changed from neurodevelopmental delay to ?Deafness, cataract, impaired intellectual development, and polyneuropathy, OMIM:619354; neurodevelopmental disorder, MONDO:0700092
09 Aug 2023	Intellectual disability - microarray and sequencing v5.241	PSMC3	Achchuthan Shanmugasundram Publications for gene: PSMC3 were set to 32500975; 37256937
09 Aug 2023	Intellectual disability - microarray and sequencing v5.241	PSMC3	Achchuthan Shanmugasundram Publications for gene: PSMC3 were set to 32500975; 37256937
09 Aug 2023	Intellectual disability - microarray and sequencing v5.241	PSMC3	Achchuthan Shanmugasundram Publications for gene: PSMC3 were set to 32500975; 37256937
09 Aug 2023	Intellectual disability - microarray and sequencing v5.240	PSMC3	Achchuthan Shanmugasundram Publications for gene: PSMC3 were set to 32500975; 37256937
09 Aug 2023	Intellectual disability - microarray and sequencing v5.240	PSMC3	Achchuthan Shanmugasundram Publications for gene: PSMC3 were set to PMID: 37256937
09 Aug 2023	Intellectual disability - microarray and sequencing v5.239	PSMC3	Achchuthan Shanmugasundram reviewed gene: PSMC3: Rating: GREEN; Mode of pathogenicity: None; Publications: 32500975, 37256937; Phenotypes: ?Deafness, cataract, impaired intellectual development, and polyneuropathy, OMIM:619354, neurodevelopmental disorder, MONDO:0700092; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
08 Aug 2023	Intellectual disability - microarray and sequencing v5.239	KCNH5	Achchuthan Shanmugasundram Phenotypes for gene: KCNH5 were changed from developmental and epileptic encephalopathy, MONDO:0100062; intellectual disability, MONDO:0001071 to developmental and epileptic encephalopathy, MONDO:0100062; intellectual disability, MONDO:0001071
08 Aug 2023	Intellectual disability - microarray and sequencing v5.240	KCNH5	Achchuthan Shanmugasundram Deleted their comment
08 Aug 2023	Intellectual disability - microarray and sequencing v5.240	KCNH5	Achchuthan Shanmugasundram Classified gene: KCNH5 as Amber List (moderate evidence)
08 Aug 2023	Intellectual disability - microarray and sequencing v5.240	KCNH5	Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Dmitrijs Rots, there is sufficient evidence for the association of this gene to intellectual disability. Hence, this gene can be promoted to green rating at the next GMS review.
08 Aug 2023	Intellectual disability - microarray and sequencing v5.240	KCNH5	Achchuthan Shanmugasundram Gene: kcnh5 has been classified as Amber List (Moderate Evidence).
08 Aug 2023	Intellectual disability - microarray and sequencing v5.241	KCNH5	Achchuthan Shanmugasundram Deleted their comment
08 Aug 2023	Intellectual disability - microarray and sequencing v5.241	KCNH5	Achchuthan Shanmugasundram Phenotypes for gene: KCNH5 were changed from developmental and epileptic encephalopathy, MONDO:0100062; intellectual disability, MONDO:0001071 to developmental and epileptic encephalopathy, MONDO:0100062; intellectual disability, MONDO:0001071
08 Aug 2023	Intellectual disability - microarray and sequencing v5.241	KCNH5	Achchuthan Shanmugasundram Classified gene: KCNH5 as Amber List (moderate evidence)
08 Aug 2023	Intellectual disability - microarray and sequencing v5.241	KCNH5	Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Dmitrijs Rots, there is sufficient evidence for the association of this gene to intellectual disability. Hence, this gene can be promoted to green rating at the next GMS review.
08 Aug 2023	Intellectual disability - microarray and sequencing v5.241	KCNH5	Achchuthan Shanmugasundram Gene: kcnh5 has been classified as Amber List (Moderate Evidence).
08 Aug 2023	Intellectual disability - microarray and sequencing v5.240	KCNH5	Achchuthan Shanmugasundram Phenotypes for gene: KCNH5 were changed from developmental and epileptic encephalopathy, MONDO:0100062; intellectual disability, MONDO:0001071 to developmental and epileptic encephalopathy, MONDO:0100062; intellectual disability, MONDO:0001071
08 Aug 2023	Intellectual disability - microarray and sequencing v5.240	KCNH5	Achchuthan Shanmugasundram Phenotypes for gene: KCNH5 were changed from developmental and epileptic encephalopathy, MONDO:0100062; intellectual disability, MONDO:0001071 to developmental and epileptic encephalopathy, MONDO:0100062; intellectual disability, MONDO:0001071
08 Aug 2023	Intellectual disability - microarray and sequencing v5.240	KCNH5	Achchuthan Shanmugasundram Classified gene: KCNH5 as Amber List (moderate evidence)
08 Aug 2023	Intellectual disability - microarray and sequencing v5.240	KCNH5	Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Dmitrijs Rots, there is sufficient evidence for the association of this gene to intellectual disability. Hence, this gene can be promoted to green rating at the next GMS review.
08 Aug 2023	Intellectual disability - microarray and sequencing v5.240	KCNH5	Achchuthan Shanmugasundram Gene: kcnh5 has been classified as Amber List (Moderate Evidence).
08 Aug 2023	Intellectual disability - microarray and sequencing v5.239	KCNH5	Achchuthan Shanmugasundram Publications for gene: KCNH5 were set to 23647072; 35874597; 36307226; 24133262
08 Aug 2023	Intellectual disability - microarray and sequencing v5.239	KCNH5	Achchuthan Shanmugasundram Publications for gene: KCNH5 were set to 23647072; 35874597; 36307226; 24133262
08 Aug 2023	Intellectual disability - microarray and sequencing v5.239	KCNH5	Achchuthan Shanmugasundram Publications for gene: KCNH5 were set to 23647072; 35874597; 36307226; 24133262
08 Aug 2023	Intellectual disability - microarray and sequencing v5.240	KCNH5	Achchuthan Shanmugasundram Phenotypes for gene: KCNH5 were changed from developmental and epileptic encephalopathy, MONDO:0100062; intellectual disability, MONDO:0001071 to developmental and epileptic encephalopathy, MONDO:0100062; intellectual disability, MONDO:0001071
08 Aug 2023	Intellectual disability - microarray and sequencing v5.239	KCNH5	Achchuthan Shanmugasundram Publications for gene: KCNH5 were set to 23647072; 35874597; 36307226; 24133262
08 Aug 2023	Intellectual disability - microarray and sequencing v5.240	KCNH5	Achchuthan Shanmugasundram Phenotypes for gene: KCNH5 were changed from developmental and epileptic encephalopathy, MONDO:0100062; intellectual disability, MONDO:0001071 to developmental and epileptic encephalopathy, MONDO:0100062; intellectual disability, MONDO:0001071
08 Aug 2023	Intellectual disability - microarray and sequencing v5.239	KCNH5	Achchuthan Shanmugasundram Publications for gene: KCNH5 were set to 23647072; 35874597; 36307226; 24133262
08 Aug 2023	Intellectual disability - microarray and sequencing v5.239	KCNH5	Achchuthan Shanmugasundram Phenotypes for gene: KCNH5 were changed from developmental and epileptic encephalopathy, MONDO:0100062; intellectual disability, MONDO:0001071 to developmental and epileptic encephalopathy, MONDO:0100062; intellectual disability, MONDO:0001071
08 Aug 2023	Intellectual disability - microarray and sequencing v5.239	KCNH5	Achchuthan Shanmugasundram Phenotypes for gene: KCNH5 were changed from INFANTILE EPILEPTIC ENCEPHALOPATHY to developmental and epileptic encephalopathy, MONDO:0100062; intellectual disability, MONDO:0001071
08 Aug 2023	Intellectual disability - microarray and sequencing v5.238	KCNH5	Achchuthan Shanmugasundram Publications for gene: KCNH5 were set to 23647072; 35874597; 36307226; 24133262
08 Aug 2023	Intellectual disability - microarray and sequencing v5.239	KCNH5	Achchuthan Shanmugasundram Publications for gene: KCNH5 were set to 23647072; 35874597; 36307226; 24133262
08 Aug 2023	Intellectual disability - microarray and sequencing v5.238	KCNH5	Achchuthan Shanmugasundram Publications for gene: KCNH5 were set to 23647072; 35874597; 36307226; 24133262
08 Aug 2023	Intellectual disability - microarray and sequencing v5.238	KCNH5	Achchuthan Shanmugasundram Mode of pathogenicity for gene: KCNH5 was changed from Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
08 Aug 2023	Intellectual disability - microarray and sequencing v5.238	KCNH5	Achchuthan Shanmugasundram Publications for gene: KCNH5 were set to 23647072
08 Aug 2023	Intellectual disability - microarray and sequencing v5.238	KCNH5	Achchuthan Shanmugasundram Mode of pathogenicity for gene: KCNH5 was changed from Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
08 Aug 2023	Intellectual disability - microarray and sequencing v5.238	KCNH5	Achchuthan Shanmugasundram Mode of pathogenicity for gene: KCNH5 was changed from Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
08 Aug 2023	Intellectual disability - microarray and sequencing v5.237	KCNH5	Achchuthan Shanmugasundram Mode of pathogenicity for gene: KCNH5 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
08 Aug 2023	Intellectual disability - microarray and sequencing v5.236	KCNH5	Achchuthan Shanmugasundram Mode of inheritance for gene: KCNH5 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
08 Aug 2023	Intellectual disability - microarray and sequencing v5.236	KCNH5	Achchuthan Shanmugasundram Mode of inheritance for gene: KCNH5 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
08 Aug 2023	Intellectual disability - microarray and sequencing v5.235	KCNH5	Achchuthan Shanmugasundram Tag Q3_23_promote_green tag was added to gene: KCNH5.
08 Aug 2023	Intellectual disability - microarray and sequencing v5.235	KCNH5	Achchuthan Shanmugasundram reviewed gene: KCNH5: Rating: GREEN; Mode of pathogenicity: None; Publications: 23647072, 35874597, 36307226, 24133262; Phenotypes: developmental and epileptic encephalopathy, MONDO:0100062, intellectual disability, MONDO:0001071; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
08 Aug 2023	Intellectual disability - microarray and sequencing v5.235	CLCNKB	Sarah Leigh Tag polygenic was removed from gene: CLCNKB. Tag digenic tag was added to gene: CLCNKB.
08 Aug 2023	Intellectual disability - microarray and sequencing v5.235	CLCNKB	Sarah Leigh Phenotypes for gene: CLCNKB were changed from Bartter syndrome, type 3, 607364Bartter syndrome, type 4b, digenic, 613090; BARTTER SYNDROME TYPE 4B to Bartter syndrome, type 3, OMIM:607364; Bartter disease type 3, MONDO:0011822; Bartter syndrome, type 4b, digenic, OMIM:613090; Bartter disease type 4B, MONDO:0000909
08 Aug 2023	Intellectual disability - microarray and sequencing v5.234	LETM1	Sarah Leigh changed review comment from: LETM1 variants has been associated with Neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction, OMIM:620089 and as moderate Gen2Phen gene for LETM1-related neurodevelopmental disorder. PMID: 36055214 reports 10 LETM1 variants in 18 patients from 11 unrelated families with childhood-onset neurodegeneration with multisystem involvement, many of whom were gathered using the GeneMatcher Program. The most common clinical features of this cohort, where an assessment could be made, were: mitochondrial respiratory complex deficiencies 11/11 (100%), global developmental delay / intellectual disability 17/18 (94%), bilateral sensorineural hearing loss 11/14 (78%) , impaired vision 10/10 (100%), cerebellar ataxia 7/9 (78%), seizures 10/15 (67%), hypotonia 11/18 (61%) (PMID: 36055214, figure 1c).; to: LETM1 variants have been associated with Neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction, OMIM:620089 and as moderate Gen2Phen gene for LETM1-related neurodevelopmental disorder. PMID: 36055214 reports 10 LETM1 variants in 18 patients from 11 unrelated families with childhood-onset neurodegeneration with multisystem involvement, many of whom were gathered using the GeneMatcher Program. The most common clinical features of this cohort, where an assessment could be made, were: mitochondrial respiratory complex deficiencies 11/11 (100%), global developmental delay / intellectual disability 17/18 (94%), bilateral sensorineural hearing loss 11/14 (78%) , impaired vision 10/10 (100%), cerebellar ataxia 7/9 (78%), seizures 10/15 (67%), hypotonia 11/18 (61%) (PMID: 36055214, figure 1c).
08 Aug 2023	Intellectual disability - microarray and sequencing v5.234	SLC22A5	Sarah Leigh Mode of inheritance for gene: SLC22A5 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
08 Aug 2023	Intellectual disability - microarray and sequencing v5.233	SLC22A5	Sarah Leigh changed review comment from: Comment on mode of inheritance: The mode of inheritance for SLC22A5 variants should be BOTH Monoallelic and Biallelic. Although, most of the evidence for symptoms associated SLC22A5 are seen in a patients with biallelic variants (HGNC:10969, OMIM:603377, Gen2Phen, Orphanet:118781, ClinGen), a few individuals heterozygous for SLC22A5 variants have been seen with a milder phenotype (PMID: 10545605; 11261427).; to: Comment on mode of inheritance: The mode of inheritance for SLC22A5 variants should be BIALLELIC, autosomal or pseudoautosomal. Although, heterozygous SLC22A5 variants have been seen in a few cases, these are detectable biochemically and are not associated with clear clinical presentation (PMID: 10545605; 11261427).
07 Aug 2023	Intellectual disability - microarray and sequencing v5.233	RPS6KA3	Arina Puzriakova Tag Q3_23_MOI tag was added to gene: RPS6KA3.
07 Aug 2023	Intellectual disability - microarray and sequencing v5.233	RPS6KA3	Arina Puzriakova Publications for gene: RPS6KA3 were set to
07 Aug 2023	Intellectual disability - microarray and sequencing v5.232	RPS6KA3	Arina Puzriakova Added comment: Comment on mode of inheritance: Should be updated from XLR to XLD (monoallelic variants in females may cause disease) at the next GMS panel update as several affected female carriers have been reported. ID in female carriers can range from mild to severe which is within the scope of the panel (PMIDs: 12210291; 12030896; 12558110; 17318637). This would also match the current MOI on other GMS panels and OMIM.
07 Aug 2023	Intellectual disability - microarray and sequencing v5.232	RPS6KA3	Arina Puzriakova Mode of inheritance for gene: RPS6KA3 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, biallelic mutations in females
07 Aug 2023	Intellectual disability - microarray and sequencing v5.231	RPS6KA3	Arina Puzriakova Phenotypes for gene: RPS6KA3 were changed from Coffin-Lowry syndrome, 303600Mental retardation, X-linked 19, 300844; COFFIN-LOWRY SYNDROME (CLS) to Coffin-Lowry syndrome, OMIM:303600; Intellectual developmental disorder, X-linked 19, OMIM:300844
05 Aug 2023	Intellectual disability - microarray and sequencing v5.230	KCNH5	Dmitrijs Rots reviewed gene: KCNH5: 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: 36307226, 35874597; Phenotypes: Neurodevelopmental disorder and Epilepsy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
03 Aug 2023	Intellectual disability - microarray and sequencing v5.230	LETM1	Sarah Leigh Entity copied from Ataxia and cerebellar anomalies - narrow panel v4.27
03 Aug 2023	Intellectual disability - microarray and sequencing v5.230	LETM1	Sarah Leigh gene: LETM1 was added gene: LETM1 was added to Intellectual disability - microarray and sequencing. Sources: Expert Review Amber,Expert Review Q3_23_promote_green, Q3_23_MOI tags were added to gene: LETM1. Mode of inheritance for gene: LETM1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LETM1 were set to 36055214; 33815143 Phenotypes for gene: LETM1 were set to Neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction, OMIM:620089
01 Aug 2023	Intellectual disability - microarray and sequencing v5.229	SLC25A24	Sarah Leigh Publications for gene: SLC25A24 were set to
01 Aug 2023	Intellectual disability - microarray and sequencing v5.228	SLC25A24	Sarah Leigh Phenotypes for gene: SLC25A24 were changed from to Fontaine progeroid syndrome, OMIM; 612289; Fontaine progeroid syndrome, MONDO:0012853
01 Aug 2023	Intellectual disability - microarray and sequencing v5.227	SLC22A5	Sarah Leigh Publications for gene: SLC22A5 were set to 9916797; 10425211; 15714519; 10480371; 9700603; 2235122; 20027113; 9634512; 11058897; 3974805; 10051646
01 Aug 2023	Intellectual disability - microarray and sequencing v5.227	SLC22A5	Sarah Leigh Added comment: Comment on mode of inheritance: The mode of inheritance for SLC22A5 variants should be BOTH Monoallelic and Biallelic. Although, most of the evidence for symptoms associated SLC22A5 are seen in a patients with biallelic variants (HGNC:10969, OMIM:603377, Gen2Phen, Orphanet:118781, ClinGen), a few individuals heterozygous for SLC22A5 variants have been seen with a milder phenotype (PMID: 10545605; 11261427).
01 Aug 2023	Intellectual disability - microarray and sequencing v5.227	SLC22A5	Sarah Leigh Mode of inheritance for gene: SLC22A5 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
01 Aug 2023	Intellectual disability - microarray and sequencing v5.226	SLC22A5	Sarah Leigh Phenotypes for gene: SLC22A5 were changed from Carnitine deficiency, systemic primary, 212140 to Carnitine deficiency, systemic primary, OMIM:212140; systemic primary carnitine deficiency disease, MONDO:0008919
31 Jul 2023	Intellectual disability - microarray and sequencing v5.225	AGTPBP1	Achchuthan Shanmugasundram Classified gene: AGTPBP1 as Amber List (moderate evidence)
31 Jul 2023	Intellectual disability - microarray and sequencing v5.225	AGTPBP1	Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence for this gene to be promoted to green rating at the next major update.
31 Jul 2023	Intellectual disability - microarray and sequencing v5.225	AGTPBP1	Achchuthan Shanmugasundram Gene: agtpbp1 has been classified as Amber List (Moderate Evidence).
31 Jul 2023	Intellectual disability - microarray and sequencing v5.224	AGTPBP1	Achchuthan Shanmugasundram Tag Q3_23_promote_green tag was added to gene: AGTPBP1.
31 Jul 2023	Intellectual disability - microarray and sequencing v5.224	AGTPBP1	Achchuthan Shanmugasundram changed review comment from: PMID:30420557 reported the identification of either homozygous or compound heterozygous variants in AGTPBP1 gene in 13 individuals from 10 unrelated families with infantile‐onset neurodegeneration. Impaired intellectual development was severe in several patients: Two had severe cognitive delay, one had profound cognitive delay, five had no speech and four had no visual recognition. In addition, functional studies with mouse models have recapitulated the human phenotype. This gene has been associated with relevant phenotypes in both OMIM (MIM #618276) and Gene2Phenotype (on DD panel with 'definitive' rating). Sources: Literature; to: PMID:30420557 reported the identification of either homozygous or compound heterozygous variants in AGTPBP1 gene in 13 individuals from 10 unrelated families with infantile‐onset neurodegeneration. Impaired intellectual development was severe in several patients: Two had severe cognitive delay, one had profound cognitive delay, five had no speech and four had no visual recognition. In addition, functional studies with mouse models have recapitulated the human phenotype. This gene has been associated with relevant phenotypes in both OMIM (MIM #618276) and Gene2Phenotype (on DD panel with 'definitive' rating). Sources: Literature
31 Jul 2023	Intellectual disability - microarray and sequencing v5.224	AGTPBP1	Achchuthan Shanmugasundram changed review comment from: PMID:30420557 reported the identification of either homozygous or compound heterozygous variants in AGTPBP1 gene in 13 individuals from 10 unrelated families with infantile‐onset neurodegeneration. Impaired intellectual development was severe, and several patients were unable to speak or have eye contact. This gene has been associated with relevant phenotypes in both OMIM (MIM #618276) and Gene2Phenotype (on DD panel with 'definitive' rating). Sources: Literature; to: PMID:30420557 reported the identification of either homozygous or compound heterozygous variants in AGTPBP1 gene in 13 individuals from 10 unrelated families with infantile‐onset neurodegeneration. Impaired intellectual development was severe in several patients: Two had severe cognitive delay, one had profound cognitive delay, five had no speech and four had no visual recognition. In addition, functional studies with mouse models have recapitulated the human phenotype. This gene has been associated with relevant phenotypes in both OMIM (MIM #618276) and Gene2Phenotype (on DD panel with 'definitive' rating). Sources: Literature
31 Jul 2023	Intellectual disability - microarray and sequencing v5.224	AGTPBP1	Achchuthan Shanmugasundram gene: AGTPBP1 was added gene: AGTPBP1 was added to Intellectual disability - microarray and sequencing. Sources: Literature 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 Neurodegeneration, childhood-onset, with cerebellar atrophy, OMIM:618276 Review for gene: AGTPBP1 was set to GREEN Added comment: PMID:30420557 reported the identification of either homozygous or compound heterozygous variants in AGTPBP1 gene in 13 individuals from 10 unrelated families with infantile‐onset neurodegeneration. Impaired intellectual development was severe, and several patients were unable to speak or have eye contact. This gene has been associated with relevant phenotypes in both OMIM (MIM #618276) and Gene2Phenotype (on DD panel with 'definitive' rating). Sources: Literature
31 Jul 2023	Intellectual disability - microarray and sequencing v5.223	ZNF292	Achchuthan Shanmugasundram reviewed gene: ZNF292: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Intellectual developmental disorder, autosomal dominant 64, OMIM:619188; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
31 Jul 2023	Intellectual disability - microarray and sequencing v5.223	PIP5K1C	Achchuthan Shanmugasundram Classified gene: PIP5K1C as Amber List (moderate evidence)
31 Jul 2023	Intellectual disability - microarray and sequencing v5.223	PIP5K1C	Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available (nine unrelated cases and supporting functional evidence) for promoting this gene to green rating in the next GMS review.
31 Jul 2023	Intellectual disability - microarray and sequencing v5.223	PIP5K1C	Achchuthan Shanmugasundram Gene: pip5k1c has been classified as Amber List (Moderate Evidence).
31 Jul 2023	Intellectual disability - microarray and sequencing v5.222	PIP5K1C	Achchuthan Shanmugasundram Tag Q3_23_promote_green tag was added to gene: PIP5K1C.
31 Jul 2023	Intellectual disability - microarray and sequencing v5.222	PIP5K1C	Achchuthan Shanmugasundram gene: PIP5K1C was added gene: PIP5K1C was added to Intellectual disability - microarray and sequencing. Sources: Literature Mode of inheritance for gene: PIP5K1C was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PIP5K1C were set to 37451268 Phenotypes for gene: PIP5K1C were set to neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071 Review for gene: PIP5K1C was set to GREEN Added comment: Three de novo heterozygous missense variants in PIP5K1C (p.Glu146Lys, p.Tyr205Cys & p.Tyr221Cys) were identified in nine unrelated children exhibiting intellectual disability, developmental delay, acquired microcephaly, seizures, visual abnormalities, and dysmorphic features. Intellectual disability was reported in all nine children and seizures were present in seven children, of which three had developmental and epileptic encephalopathy. In addition, there is functional evidence available, which includes an in vivo zebrafish model that recapitulates the human phenotype (developmental defects affecting the forebrain, including the eyes, as well as craniofacial abnormalities) (PMID:37451268). This gene has been associated with another phenotype (Lethal congenital contractural syndrome 3, MIM #611369) in both OMIM and Gene2Phenotype, but not yet associated with this neurodevelopmental disorders in either databases. Sources: Literature
28 Jul 2023	Intellectual disability - microarray and sequencing v5.221	TMEM63B	Achchuthan Shanmugasundram Classified gene: TMEM63B as Amber List (moderate evidence)
28 Jul 2023	Intellectual disability - microarray and sequencing v5.221	TMEM63B	Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available (17 unrelated cases) in support of promoting this gene to green rating in the next GMS review.
28 Jul 2023	Intellectual disability - microarray and sequencing v5.221	TMEM63B	Achchuthan Shanmugasundram Gene: tmem63b has been classified as Amber List (Moderate Evidence).
28 Jul 2023	Intellectual disability - microarray and sequencing v5.220	TMEM63B	Achchuthan Shanmugasundram Tag Q3_23_promote_green tag was added to gene: TMEM63B.
28 Jul 2023	Intellectual disability - microarray and sequencing v5.220	TMEM63B	Achchuthan Shanmugasundram gene: TMEM63B was added gene: TMEM63B was added to Intellectual disability - microarray and sequencing. Sources: Literature Mode of inheritance for gene: TMEM63B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TMEM63B were set to 37421948 Phenotypes for gene: TMEM63B were set to developmental and epileptic encephalopathy, MONDO:0100062 Review for gene: TMEM63B was set to GREEN Added comment: PMID:37421948 - 17 unrelated individuals with severe early-onset developmental and epileptic encephalopathy (DEE), intellectual disability, and severe motor and cortical visual impairment were identified with ten distinct heterozygous variants inTMEM63B. The variants occurred de novo in 16/17 individuals for whom parental DNA was available and either missense or in-frame. All individuals had global developmental delay, with moderate-to-profound intellectual disability and severe motor impairment. Sources: Literature
28 Jul 2023	Intellectual disability - microarray and sequencing v5.219	DHX9	Achchuthan Shanmugasundram Deleted their comment
28 Jul 2023	Intellectual disability - microarray and sequencing v5.219	DHX9	Achchuthan Shanmugasundram Classified gene: DHX9 as Amber List (moderate evidence)
28 Jul 2023	Intellectual disability - microarray and sequencing v5.219	DHX9	Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available (eight unrelated cases) in support of promoting this gene to green rating at the next GMS review.
28 Jul 2023	Intellectual disability - microarray and sequencing v5.219	DHX9	Achchuthan Shanmugasundram Gene: dhx9 has been classified as Amber List (Moderate Evidence).
28 Jul 2023	Intellectual disability - microarray and sequencing v5.219	DHX9	Achchuthan Shanmugasundram Classified gene: DHX9 as Amber List (moderate evidence)
28 Jul 2023	Intellectual disability - microarray and sequencing v5.219	DHX9	Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available (eight unrelated cases) in support of promoting this gene to green rating at the next GMS review.
28 Jul 2023	Intellectual disability - microarray and sequencing v5.219	DHX9	Achchuthan Shanmugasundram Gene: dhx9 has been classified as Amber List (Moderate Evidence).
28 Jul 2023	Intellectual disability - microarray and sequencing v5.218	DHX9	Achchuthan Shanmugasundram Tag Q3_23_promote_green tag was added to gene: DHX9.
28 Jul 2023	Intellectual disability - microarray and sequencing v5.218	DHX9	Achchuthan Shanmugasundram gene: DHX9 was added gene: DHX9 was added to Intellectual disability - microarray and sequencing. Sources: Literature Mode of inheritance for gene: DHX9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: DHX9 were set to 37467750 Phenotypes for gene: DHX9 were set to neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071 Review for gene: DHX9 was set to GREEN Added comment: PMID:37467750 - 17 unrelated individuals were identified with de novo, ultra-rare, heterozygous missense or loss-of-function DHX9 variants, of which 14 individuals were reported with a neurodevelopmental disorder (NDD) and three were reported with Charcot-Marie-Tooth disease (CMT). All 14 cases with NDD had developmental delay, of which eight were reported with intellectual disability (4 severe, 1 moderate, 3 mild). Two cases did not have ID, one had borderline ID and three cases were too young (0-5 years old). Sources: Literature
28 Jul 2023	Intellectual disability - microarray and sequencing v5.217	CNOT9	Achchuthan Shanmugasundram Tag Q3_23_promote_green tag was added to gene: CNOT9.
28 Jul 2023	Intellectual disability - microarray and sequencing v5.217	CNOT9	Achchuthan Shanmugasundram Classified gene: CNOT9 as Amber List (moderate evidence)
28 Jul 2023	Intellectual disability - microarray and sequencing v5.217	CNOT9	Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence (seven unrelated cases) for this gene to be promoted to Green at the next major update.
28 Jul 2023	Intellectual disability - microarray and sequencing v5.217	CNOT9	Achchuthan Shanmugasundram Gene: cnot9 has been classified as Amber List (Moderate Evidence).
28 Jul 2023	Intellectual disability - microarray and sequencing v5.216	CNOT9	Achchuthan Shanmugasundram gene: CNOT9 was added gene: CNOT9 was added to Intellectual disability - microarray and sequencing. Sources: Literature Mode of inheritance for gene: CNOT9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CNOT9 were set to 37092538 Phenotypes for gene: CNOT9 were set to intellectual disability, MONDO:0001071 Review for gene: CNOT9 was set to GREEN Added comment: PMID:37092538 - Seven unrelated individuals with de novo variants in CNOT9 gene (one individual each with variants p.Arg46Gly, p.Pro131Leu and p.Arg227His and four individuals with p.Arg292Trp) were reported with a neurodevelopmental disorder. All affected persons have intellectual disability (three severe, three mild and one unclassified) and five of them have seizures. This gene has not yet been associated with relevant phenotypes either in OMIM or in Gene2Phenotype. Sources: Literature
28 Jul 2023	Intellectual disability - microarray and sequencing v5.215	SLC30A9	Achchuthan Shanmugasundram Deleted their comment
28 Jul 2023	Intellectual disability - microarray and sequencing v5.215	SLC30A9	Achchuthan Shanmugasundram Classified gene: SLC30A9 as Amber List (moderate evidence)
28 Jul 2023	Intellectual disability - microarray and sequencing v5.215	SLC30A9	Achchuthan Shanmugasundram Added comment: Comment on list classification: There are six unrelated families with Intellectual disability/ global developmental delay reported with biallelic variants in this gene. Hence, this gene can be promoted to Green at the next major update.
28 Jul 2023	Intellectual disability - microarray and sequencing v5.215	SLC30A9	Achchuthan Shanmugasundram Gene: slc30a9 has been classified as Amber List (Moderate Evidence).
28 Jul 2023	Intellectual disability - microarray and sequencing v5.215	SLC30A9	Achchuthan Shanmugasundram Deleted their comment
28 Jul 2023	Intellectual disability - microarray and sequencing v5.215	SLC30A9	Achchuthan Shanmugasundram Deleted their comment
28 Jul 2023	Intellectual disability - microarray and sequencing v5.215	SLC30A9	Achchuthan Shanmugasundram Classified gene: SLC30A9 as Amber List (moderate evidence)
28 Jul 2023	Intellectual disability - microarray and sequencing v5.215	SLC30A9	Achchuthan Shanmugasundram Added comment: Comment on list classification: There are six unrelated families with Intellectual disability/ global developmental delay reported with biallelic variants in this gene. Hence, this gene can be promoted to Green at the next major update.
28 Jul 2023	Intellectual disability - microarray and sequencing v5.215	SLC30A9	Achchuthan Shanmugasundram Gene: slc30a9 has been classified as Amber List (Moderate Evidence).
28 Jul 2023	Intellectual disability - microarray and sequencing v5.215	SLC30A9	Achchuthan Shanmugasundram changed review comment from: Comment on list classification: There are six unrelated families with Intellectual disability/ global developmental delay reported with biallelic variants in this gene. Hence, this gene can be promoted to Green at the next major update.; to: Comment on list classification: There are six unrelated families with Intellectual disability/ global developmental delay reported with biallelic variants in this gene. Hence, this gene can be promoted to Green at the next major update.
28 Jul 2023	Intellectual disability - microarray and sequencing v5.215	SLC30A9	Achchuthan Shanmugasundram changed review comment from: Comment on list classification: There are six unrelated families with Intellectual disability/ global developmental delay reported with biallelic variants in this gene. Hence, this gene can be promoted to Green at the next major update.; to: Comment on list classification: There are six unrelated families with Intellectual disability/ global developmental delay reported with biallelic variants in this gene. Hence, this gene can be promoted to Green at the next major update.
28 Jul 2023	Intellectual disability - microarray and sequencing v5.215	SLC30A9	Achchuthan Shanmugasundram Classified gene: SLC30A9 as Amber List (moderate evidence)
28 Jul 2023	Intellectual disability - microarray and sequencing v5.215	SLC30A9	Achchuthan Shanmugasundram Added comment: Comment on list classification: There are six unrelated families with Intellectual disability/ global developmental delay reported with biallelic variants in this gene. Hence, this gene can be promoted to Green at the next major update.
28 Jul 2023	Intellectual disability - microarray and sequencing v5.215	SLC30A9	Achchuthan Shanmugasundram Gene: slc30a9 has been classified as Amber List (Moderate Evidence).
28 Jul 2023	Intellectual disability - microarray and sequencing v5.215	SLC30A9	Achchuthan Shanmugasundram Classified gene: SLC30A9 as Amber List (moderate evidence)
28 Jul 2023	Intellectual disability - microarray and sequencing v5.215	SLC30A9	Achchuthan Shanmugasundram Added comment: Comment on list classification: There are six unrelated families with Intellectual disability/ global developmental delay reported with biallelic variants in this gene. Hence, this gene can be promoted to Green at the next major update.
28 Jul 2023	Intellectual disability - microarray and sequencing v5.215	SLC30A9	Achchuthan Shanmugasundram Gene: slc30a9 has been classified as Amber List (Moderate Evidence).
28 Jul 2023	Intellectual disability - microarray and sequencing v5.214	SLC30A9	Achchuthan Shanmugasundram Phenotypes for gene: SLC30A9 were changed from Birk-Landau-Perez syndrome, OMIM:617595 to Birk-Landau-Perez syndrome, OMIM:617595
28 Jul 2023	Intellectual disability - microarray and sequencing v5.214	SLC30A9	Achchuthan Shanmugasundram Phenotypes for gene: SLC30A9 were changed from Birk-Landau-Perez syndrome, OMIM:617595 to Birk-Landau-Perez syndrome, OMIM:617595
28 Jul 2023	Intellectual disability - microarray and sequencing v5.213	SLC30A9	Achchuthan Shanmugasundram Phenotypes for gene: SLC30A9 were changed from Birk-Landau-Perez syndrome, OMIM:617595 to Birk-Landau-Perez syndrome, OMIM:617595
28 Jul 2023	Intellectual disability - microarray and sequencing v5.213	SLC30A9	Achchuthan Shanmugasundram Tag Q3_23_promote_green tag was added to gene: SLC30A9.
28 Jul 2023	Intellectual disability - microarray and sequencing v5.213	SLC30A9	Achchuthan Shanmugasundram Phenotypes for gene: SLC30A9 were changed from Birk-Landau-Perez syndrome, OMIM:617595 to Birk-Landau-Perez syndrome, OMIM:617595
28 Jul 2023	Intellectual disability - microarray and sequencing v5.213	SLC30A9	Achchuthan Shanmugasundram Phenotypes for gene: SLC30A9 were changed from ?Birk-Landau-Perez syndrome 617595 to Birk-Landau-Perez syndrome, OMIM:617595
28 Jul 2023	Intellectual disability - microarray and sequencing v5.212	SLC30A9	Achchuthan Shanmugasundram Publications for gene: SLC30A9 were set to 28334855
28 Jul 2023	Intellectual disability - microarray and sequencing v5.211	SLC30A9	Achchuthan Shanmugasundram reviewed gene: SLC30A9: Rating: GREEN; Mode of pathogenicity: None; Publications: 28334855, 34716203, 37041080; Phenotypes: Birk-Landau-Perez syndrome, OMIM:617595; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
25 Jul 2023	Intellectual disability - microarray and sequencing v5.211	DAGLA	Achchuthan Shanmugasundram Mode of pathogenicity for gene: DAGLA was changed from Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
25 Jul 2023	Intellectual disability - microarray and sequencing v5.211	DAGLA	Achchuthan Shanmugasundram Mode of pathogenicity for gene: DAGLA was changed from Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
25 Jul 2023	Intellectual disability - microarray and sequencing v5.211	DAGLA	Achchuthan Shanmugasundram Mode of pathogenicity for gene: DAGLA was changed from Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
25 Jul 2023	Intellectual disability - microarray and sequencing v5.211	DAGLA	Achchuthan Shanmugasundram Mode of pathogenicity for gene: DAGLA was changed from Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
25 Jul 2023	Intellectual disability - microarray and sequencing v5.211	DAGLA	Achchuthan Shanmugasundram Mode of pathogenicity for gene: DAGLA was changed from Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
25 Jul 2023	Intellectual disability - microarray and sequencing v5.210	DAGLA	Achchuthan Shanmugasundram Mode of pathogenicity for gene: DAGLA was changed from Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
25 Jul 2023	Intellectual disability - microarray and sequencing v5.210	DAGLA	Achchuthan Shanmugasundram Mode of pathogenicity for gene: DAGLA was changed from Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
25 Jul 2023	Intellectual disability - microarray and sequencing v5.210	DAGLA	Achchuthan Shanmugasundram Mode of pathogenicity for gene: DAGLA was changed from Other to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
25 Jul 2023	Intellectual disability - microarray and sequencing v5.209	DAGLA	Achchuthan Shanmugasundram edited their review of gene: DAGLA: Changed mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
25 Jul 2023	Intellectual disability - microarray and sequencing v5.209	DAGLA	Achchuthan Shanmugasundram changed review comment from: As reviewed by Irina Ziravecka, there are nine children from eight unrelated families reported with heterozygous de novo variants in DAGLA gene and presenting with a neuro-ocular phenotype characterized by developmental delay, ataxia and complex oculomotor abnormality. Of these nine children, five had intellectual disability and one had low average IQ. In addition, the functional data suggests potential mechanisms include DAGLA haploinsufficiency at the plasma membrane or dominant negative effect (PMID:35737950).; to: As reviewed by Irina Ziravecka, there are nine children from eight unrelated families reported with heterozygous de novo variants in DAGLA gene and presenting with a neuro-ocular phenotype characterized by developmental delay, ataxia and complex oculomotor abnormality. Of these nine children, five had intellectual disability and one had low average IQ. In addition, the functional data suggests potential mechanisms include DAGLA haploinsufficiency at the plasma membrane or dominant negative effect (PMID:35737950). This gene has not yet been associated with any relevant phenotypes either in OMIM or in Gene2Phenotype.
25 Jul 2023	Intellectual disability - microarray and sequencing v5.209	DAGLA	Achchuthan Shanmugasundram Tag Q3_23_promote_green tag was added to gene: DAGLA.
25 Jul 2023	Intellectual disability - microarray and sequencing v5.209	DAGLA	Achchuthan Shanmugasundram Phenotypes for gene: DAGLA were changed from intellectual disability, MONDO:0001071 to intellectual disability, MONDO:0001071
25 Jul 2023	Intellectual disability - microarray and sequencing v5.209	DAGLA	Achchuthan Shanmugasundram Phenotypes for gene: DAGLA were changed from intellectual disability, MONDO:0001071 to intellectual disability, MONDO:0001071
25 Jul 2023	Intellectual disability - microarray and sequencing v5.209	DAGLA	Achchuthan Shanmugasundram Phenotypes for gene: DAGLA were changed from intellectual disability, MONDO:0001071 to intellectual disability, MONDO:0001071
25 Jul 2023	Intellectual disability - microarray and sequencing v5.209	DAGLA	Achchuthan Shanmugasundram Deleted their comment
25 Jul 2023	Intellectual disability - microarray and sequencing v5.209	DAGLA	Achchuthan Shanmugasundram Phenotypes for gene: DAGLA were changed from intellectual disability, MONDO:0001071 to intellectual disability, MONDO:0001071
25 Jul 2023	Intellectual disability - microarray and sequencing v5.209	DAGLA	Achchuthan Shanmugasundram Deleted their comment
25 Jul 2023	Intellectual disability - microarray and sequencing v5.209	DAGLA	Achchuthan Shanmugasundram Deleted their comment
25 Jul 2023	Intellectual disability - microarray and sequencing v5.209	DAGLA	Achchuthan Shanmugasundram Deleted their comment
25 Jul 2023	Intellectual disability - microarray and sequencing v5.209	DAGLA	Achchuthan Shanmugasundram Phenotypes for gene: DAGLA were changed from intellectual disability, MONDO:0001071 to intellectual disability, MONDO:0001071
25 Jul 2023	Intellectual disability - microarray and sequencing v5.209	DAGLA	Achchuthan Shanmugasundram Phenotypes for gene: DAGLA were changed from intellectual disability, MONDO:0001071 to intellectual disability, MONDO:0001071
25 Jul 2023	Intellectual disability - microarray and sequencing v5.209	DAGLA	Achchuthan Shanmugasundram Phenotypes for gene: DAGLA were changed from developmental delay; ataxia; complex oculomotor abnormality to intellectual disability, MONDO:0001071
25 Jul 2023	Intellectual disability - microarray and sequencing v5.208	DAGLA	Achchuthan Shanmugasundram Classified gene: DAGLA as Amber List (moderate evidence)
25 Jul 2023	Intellectual disability - microarray and sequencing v5.208	DAGLA	Achchuthan Shanmugasundram Added comment: Comment on list classification: There are more than 3 unrelated cases associating monoallelic variants in this gene to intellectual disability. Hence, this gene can be promoted to Green rating at the next GMS update.
25 Jul 2023	Intellectual disability - microarray and sequencing v5.208	DAGLA	Achchuthan Shanmugasundram Gene: dagla has been classified as Amber List (Moderate Evidence).
25 Jul 2023	Intellectual disability - microarray and sequencing v5.208	DAGLA	Achchuthan Shanmugasundram Classified gene: DAGLA as Amber List (moderate evidence)
25 Jul 2023	Intellectual disability - microarray and sequencing v5.208	DAGLA	Achchuthan Shanmugasundram Added comment: Comment on list classification: There are more than 3 unrelated cases associating monoallelic variants in this gene to intellectual disability. Hence, this gene can be promoted to Green rating at the next GMS update.
25 Jul 2023	Intellectual disability - microarray and sequencing v5.208	DAGLA	Achchuthan Shanmugasundram Gene: dagla has been classified as Amber List (Moderate Evidence).
25 Jul 2023	Intellectual disability - microarray and sequencing v5.208	DAGLA	Achchuthan Shanmugasundram Classified gene: DAGLA as Amber List (moderate evidence)
25 Jul 2023	Intellectual disability - microarray and sequencing v5.208	DAGLA	Achchuthan Shanmugasundram Added comment: Comment on list classification: There are more than 3 unrelated cases associating monoallelic variants in this gene to intellectual disability. Hence, this gene can be promoted to Green rating at the next GMS update.
25 Jul 2023	Intellectual disability - microarray and sequencing v5.208	DAGLA	Achchuthan Shanmugasundram Gene: dagla has been classified as Amber List (Moderate Evidence).
25 Jul 2023	Intellectual disability - microarray and sequencing v5.208	DAGLA	Achchuthan Shanmugasundram Classified gene: DAGLA as Amber List (moderate evidence)
25 Jul 2023	Intellectual disability - microarray and sequencing v5.208	DAGLA	Achchuthan Shanmugasundram Added comment: Comment on list classification: There are more than 3 unrelated cases associating monoallelic variants in this gene to intellectual disability. Hence, this gene can be promoted to Green rating at the next GMS update.
25 Jul 2023	Intellectual disability - microarray and sequencing v5.208	DAGLA	Achchuthan Shanmugasundram Gene: dagla has been classified as Amber List (Moderate Evidence).
25 Jul 2023	Intellectual disability - microarray and sequencing v5.207	DAGLA	Achchuthan Shanmugasundram Deleted their comment
25 Jul 2023	Intellectual disability - microarray and sequencing v5.207	DAGLA	Achchuthan Shanmugasundram Classified gene: DAGLA as Amber List (moderate evidence)
25 Jul 2023	Intellectual disability - microarray and sequencing v5.207	DAGLA	Achchuthan Shanmugasundram Added comment: Comment on list classification: There are more than 3 unrelated cases associating monoallelic variants in this gene to intellectual disability. Hence, this gene can be promoted to Green rating at the next GMS update.
25 Jul 2023	Intellectual disability - microarray and sequencing v5.207	DAGLA	Achchuthan Shanmugasundram Gene: dagla has been classified as Amber List (Moderate Evidence).
25 Jul 2023	Intellectual disability - microarray and sequencing v5.207	DAGLA	Achchuthan Shanmugasundram Deleted their comment
25 Jul 2023	Intellectual disability - microarray and sequencing v5.207	DAGLA	Achchuthan Shanmugasundram Classified gene: DAGLA as Amber List (moderate evidence)
25 Jul 2023	Intellectual disability - microarray and sequencing v5.207	DAGLA	Achchuthan Shanmugasundram Added comment: Comment on list classification: There are more than 3 unrelated cases associating monoallelic variants in this gene to intellectual disability. Hence, this gene can be promoted to Green rating at the next GMS update.
25 Jul 2023	Intellectual disability - microarray and sequencing v5.207	DAGLA	Achchuthan Shanmugasundram Gene: dagla has been classified as Amber List (Moderate Evidence).
25 Jul 2023	Intellectual disability - microarray and sequencing v5.207	DAGLA	Achchuthan Shanmugasundram Classified gene: DAGLA as Amber List (moderate evidence)
25 Jul 2023	Intellectual disability - microarray and sequencing v5.207	DAGLA	Achchuthan Shanmugasundram Added comment: Comment on list classification: There are more than 3 unrelated cases associating monoallelic variants in this gene to intellectual disability. Hence, this gene can be promoted to Green rating at the next GMS update.
25 Jul 2023	Intellectual disability - microarray and sequencing v5.207	DAGLA	Achchuthan Shanmugasundram Gene: dagla has been classified as Amber List (Moderate Evidence).
25 Jul 2023	Intellectual disability - microarray and sequencing v5.206	DAGLA	Achchuthan Shanmugasundram Publications for gene: DAGLA were set to 35737950
25 Jul 2023	Intellectual disability - microarray and sequencing v5.206	DAGLA	Achchuthan Shanmugasundram Publications for gene: DAGLA were set to PMID: 35737950
25 Jul 2023	Intellectual disability - microarray and sequencing v5.205	DAGLA	Achchuthan Shanmugasundram changed review comment from: As reviewed by Irina Ziravecka, there are nine children from eight unrelated families reported with heterozygous de novo variants in DAGLA gene and presenting with a neuro-ocular phenotype characterized by developmental delay, ataxia and complex oculomotor abnormality. Of these nine children, five had intellectual disability and one had low average IQ (PMID:35737950).; to: As reviewed by Irina Ziravecka, there are nine children from eight unrelated families reported with heterozygous de novo variants in DAGLA gene and presenting with a neuro-ocular phenotype characterized by developmental delay, ataxia and complex oculomotor abnormality. Of these nine children, five had intellectual disability and one had low average IQ. In addition, the functional data suggests potential mechanisms include DAGLA haploinsufficiency at the plasma membrane or dominant negative effect (PMID:35737950).
25 Jul 2023	Intellectual disability - microarray and sequencing v5.205	DAGLA	Achchuthan Shanmugasundram changed review comment from: As reviewed by Irina Ziravecka, there are nine children from eight unrelated families reported with heterozygous variants in DAGLA gene and presenting with a neuro-ocular phenotype characterized by developmental delay, ataxia and complex oculomotor abnormality. Of these nine children, five had intellectual disability and one had low average IQ (PMID:35737950).; to: As reviewed by Irina Ziravecka, there are nine children from eight unrelated families reported with heterozygous de novo variants in DAGLA gene and presenting with a neuro-ocular phenotype characterized by developmental delay, ataxia and complex oculomotor abnormality. Of these nine children, five had intellectual disability and one had low average IQ (PMID:35737950).
25 Jul 2023	Intellectual disability - microarray and sequencing v5.205	DAGLA	Achchuthan Shanmugasundram reviewed gene: DAGLA: Rating: GREEN; Mode of pathogenicity: None; Publications: 35737950; Phenotypes: intellectual disability, MONDO:0001071; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
17 Jul 2023	Intellectual disability - microarray and sequencing v5.205	BUB1	Arina Puzriakova Phenotypes for gene: BUB1 were changed from Congenital microcephaly; Global developmental delay; Intellectual disability; Abnormal heart morphology; Growth delay to Microcephaly 30, primary, autosomal recessive, OMIM:620183
17 Jul 2023	Intellectual disability - microarray and sequencing v5.204	BUB1	Arina Puzriakova commented on gene: BUB1
17 Jul 2023	Intellectual disability - microarray and sequencing v5.204	BUB1	Arina Puzriakova Tag Q4_22_MOI was removed from gene: BUB1.
17 Jul 2023	Intellectual disability - microarray and sequencing v5.204	DAGLA	Irina Ziravecka gene: DAGLA was added gene: DAGLA was added to Intellectual disability - microarray and sequencing. Sources: Literature Mode of inheritance for gene: DAGLA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: DAGLA were set to PMID: 35737950 Phenotypes for gene: DAGLA were set to developmental delay; ataxia; complex oculomotor abnormality Mode of pathogenicity for gene: DAGLA was set to Other Review for gene: DAGLA was set to GREEN Added comment: PMID: 35737950 - nine children from eight families with heterozygous, de novo truncating variants in the last exon of DAGLA with a neuro-ocular phenotype. Sources: Literature
07 Jul 2023	Intellectual disability - microarray and sequencing v5.204	PTPA	Achchuthan Shanmugasundram Deleted their comment
07 Jul 2023	Intellectual disability - microarray and sequencing v5.204	PTPA	Achchuthan Shanmugasundram Deleted their comment
07 Jul 2023	Intellectual disability - microarray and sequencing v5.204	PTPA	Achchuthan Shanmugasundram Classified gene: PTPA as Amber List (moderate evidence)
07 Jul 2023	Intellectual disability - microarray and sequencing v5.204	PTPA	Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Konstantinos Varvagiannis, there are two unrelated cases with intellectual disability and hence this gene should be rated amber.
07 Jul 2023	Intellectual disability - microarray and sequencing v5.204	PTPA	Achchuthan Shanmugasundram Gene: ptpa has been classified as Amber List (Moderate Evidence).
07 Jul 2023	Intellectual disability - microarray and sequencing v5.203	PTPA	Achchuthan Shanmugasundram Classified gene: PTPA as Amber List (moderate evidence)
07 Jul 2023	Intellectual disability - microarray and sequencing v5.203	PTPA	Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Konstantinos Varvagiannis, there are two unrelated cases with intellectual disability and hence this gene should be rated amber.
07 Jul 2023	Intellectual disability - microarray and sequencing v5.203	PTPA	Achchuthan Shanmugasundram Gene: ptpa has been classified as Amber List (Moderate Evidence).
07 Jul 2023	Intellectual disability - microarray and sequencing v5.203	PTPA	Achchuthan Shanmugasundram Deleted their comment
07 Jul 2023	Intellectual disability - microarray and sequencing v5.203	PTPA	Achchuthan Shanmugasundram Classified gene: PTPA as Amber List (moderate evidence)
07 Jul 2023	Intellectual disability - microarray and sequencing v5.203	PTPA	Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Konstantinos Varvagiannis, there are two unrelated cases with intellectual disability and hence this gene should be rated amber.
07 Jul 2023	Intellectual disability - microarray and sequencing v5.203	PTPA	Achchuthan Shanmugasundram Gene: ptpa has been classified as Amber List (Moderate Evidence).
07 Jul 2023	Intellectual disability - microarray and sequencing v5.203	PTPA	Achchuthan Shanmugasundram Classified gene: PTPA as Amber List (moderate evidence)
07 Jul 2023	Intellectual disability - microarray and sequencing v5.203	PTPA	Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Konstantinos Varvagiannis, there are two unrelated cases with intellectual disability and hence this gene should be rated amber.
07 Jul 2023	Intellectual disability - microarray and sequencing v5.203	PTPA	Achchuthan Shanmugasundram Gene: ptpa has been classified as Amber List (Moderate Evidence).
07 Jul 2023	Intellectual disability - microarray and sequencing v5.202	PTPA	Achchuthan Shanmugasundram Phenotypes for gene: PTPA were changed from Intellectual disability, MONDO:0001071 to Intellectual disability, MONDO:0001071
07 Jul 2023	Intellectual disability - microarray and sequencing v5.202	PTPA	Achchuthan Shanmugasundram Phenotypes for gene: PTPA were changed from Intellectual disability, MONDO:0001071 to Intellectual disability, MONDO:0001071
07 Jul 2023	Intellectual disability - microarray and sequencing v5.201	PTPA	Achchuthan Shanmugasundram Phenotypes for gene: PTPA were changed from Intellectual disability, MONDO:0001071 to Intellectual disability, MONDO:0001071
07 Jul 2023	Intellectual disability - microarray and sequencing v5.201	PTPA	Achchuthan Shanmugasundram Phenotypes for gene: PTPA were changed from Intellectual disability, MONDO:0001071 to Intellectual disability, MONDO:0001071
07 Jul 2023	Intellectual disability - microarray and sequencing v5.201	PTPA	Achchuthan Shanmugasundram Phenotypes for gene: PTPA were changed from Intellectual disability; Parkinsonism to Intellectual disability, MONDO:0001071
07 Jul 2023	Intellectual disability - microarray and sequencing v5.200	PTPA	Achchuthan Shanmugasundram reviewed gene: PTPA: Rating: AMBER; Mode of pathogenicity: None; Publications: 36073231; Phenotypes: Intellectual disability, MONDO:0001071; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
07 Jul 2023	Intellectual disability - microarray and sequencing v5.200	FOXR1	Achchuthan Shanmugasundram Deleted their comment
07 Jul 2023	Intellectual disability - microarray and sequencing v5.200	FOXR1	Achchuthan Shanmugasundram Deleted their comment
07 Jul 2023	Intellectual disability - microarray and sequencing v5.200	FOXR1	Achchuthan Shanmugasundram Deleted their comment
07 Jul 2023	Intellectual disability - microarray and sequencing v5.200	FOXR1	Achchuthan Shanmugasundram Deleted their comment
07 Jul 2023	Intellectual disability - microarray and sequencing v5.200	FOXR1	Achchuthan Shanmugasundram Deleted their comment
07 Jul 2023	Intellectual disability - microarray and sequencing v5.200	FOXR1	Achchuthan Shanmugasundram Classified gene: FOXR1 as Amber List (moderate evidence)
07 Jul 2023	Intellectual disability - microarray and sequencing v5.200	FOXR1	Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Zornitza Stark, there is one case with global developmental delay and supporting functional evidence including mouse model. Hence, this gene should be rated amber.
07 Jul 2023	Intellectual disability - microarray and sequencing v5.200	FOXR1	Achchuthan Shanmugasundram Gene: foxr1 has been classified as Amber List (Moderate Evidence).
07 Jul 2023	Intellectual disability - microarray and sequencing v5.200	FOXR1	Achchuthan Shanmugasundram changed review comment from: Comment on list classification: As reviewed by Zornitza Stark, there is one case with global developmental delay and supporting functional evidence including mouse model. Hence, this gene should be rated amber.; to: Comment on list classification: As reviewed by Zornitza Stark, there is one case with global developmental delay supported by functional evidence including mouse model. Hence, this gene should be rated amber.
07 Jul 2023	Intellectual disability - microarray and sequencing v5.200	FOXR1	Achchuthan Shanmugasundram Classified gene: FOXR1 as Amber List (moderate evidence)
07 Jul 2023	Intellectual disability - microarray and sequencing v5.200	FOXR1	Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Zornitza Stark, there is one case with global developmental delay and supporting functional evidence including mouse model. Hence, this gene should be rated amber.
07 Jul 2023	Intellectual disability - microarray and sequencing v5.200	FOXR1	Achchuthan Shanmugasundram Gene: foxr1 has been classified as Amber List (Moderate Evidence).
07 Jul 2023	Intellectual disability - microarray and sequencing v5.199	FOXR1	Achchuthan Shanmugasundram Classified gene: FOXR1 as Amber List (moderate evidence)
07 Jul 2023	Intellectual disability - microarray and sequencing v5.199	FOXR1	Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Zornitza Stark, there is one case with global developmental delay and supporting functional evidence including mouse model. Hence, this gene should be rated amber.
07 Jul 2023	Intellectual disability - microarray and sequencing v5.199	FOXR1	Achchuthan Shanmugasundram Gene: foxr1 has been classified as Amber List (Moderate Evidence).
07 Jul 2023	Intellectual disability - microarray and sequencing v5.200	FOXR1	Achchuthan Shanmugasundram Classified gene: FOXR1 as Amber List (moderate evidence)
07 Jul 2023	Intellectual disability - microarray and sequencing v5.200	FOXR1	Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Zornitza Stark, there is one case with global developmental delay and supporting functional evidence including mouse model. Hence, this gene should be rated amber.
07 Jul 2023	Intellectual disability - microarray and sequencing v5.200	FOXR1	Achchuthan Shanmugasundram Gene: foxr1 has been classified as Amber List (Moderate Evidence).
07 Jul 2023	Intellectual disability - microarray and sequencing v5.199	FOXR1	Achchuthan Shanmugasundram Classified gene: FOXR1 as Amber List (moderate evidence)
07 Jul 2023	Intellectual disability - microarray and sequencing v5.199	FOXR1	Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Zornitza Stark, there is one case with global developmental delay and supporting functional evidence including mouse model. Hence, this gene should be rated amber.
07 Jul 2023	Intellectual disability - microarray and sequencing v5.199	FOXR1	Achchuthan Shanmugasundram Gene: foxr1 has been classified as Amber List (Moderate Evidence).
07 Jul 2023	Intellectual disability - microarray and sequencing v5.199	FOXR1	Achchuthan Shanmugasundram Deleted their comment
07 Jul 2023	Intellectual disability - microarray and sequencing v5.199	FOXR1	Achchuthan Shanmugasundram Deleted their comment
07 Jul 2023	Intellectual disability - microarray and sequencing v5.199	FOXR1	Achchuthan Shanmugasundram Classified gene: FOXR1 as Amber List (moderate evidence)
07 Jul 2023	Intellectual disability - microarray and sequencing v5.199	FOXR1	Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Zornitza Stark, there is one case with global developmental delay and supporting functional evidence including mouse model. Hence, this gene should be rated amber.
07 Jul 2023	Intellectual disability - microarray and sequencing v5.199	FOXR1	Achchuthan Shanmugasundram Gene: foxr1 has been classified as Amber List (Moderate Evidence).
07 Jul 2023	Intellectual disability - microarray and sequencing v5.199	FOXR1	Achchuthan Shanmugasundram Classified gene: FOXR1 as Amber List (moderate evidence)
07 Jul 2023	Intellectual disability - microarray and sequencing v5.199	FOXR1	Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Zornitza Stark, there is one case with global developmental delay and supporting functional evidence including mouse model. Hence, this gene should be rated amber.
07 Jul 2023	Intellectual disability - microarray and sequencing v5.199	FOXR1	Achchuthan Shanmugasundram Gene: foxr1 has been classified as Amber List (Moderate Evidence).
07 Jul 2023	Intellectual disability - microarray and sequencing v5.199	FOXR1	Achchuthan Shanmugasundram Classified gene: FOXR1 as Amber List (moderate evidence)
07 Jul 2023	Intellectual disability - microarray and sequencing v5.199	FOXR1	Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Zornitza Stark, there is one case with global developmental delay and supporting functional evidence including mouse model. Hence, this gene should be rated amber.
07 Jul 2023	Intellectual disability - microarray and sequencing v5.199	FOXR1	Achchuthan Shanmugasundram Gene: foxr1 has been classified as Amber List (Moderate Evidence).
07 Jul 2023	Intellectual disability - microarray and sequencing v5.198	FOXR1	Achchuthan Shanmugasundram Phenotypes for gene: FOXR1 were changed from Global developmental delay, HP:0001263; microcephaly, MONDO:0001149; Brain atrophy, HP:0012444 to Global developmental delay, HP:0001263; microcephaly, MONDO:0001149; Brain atrophy, HP:0012444
07 Jul 2023	Intellectual disability - microarray and sequencing v5.198	FOXR1	Achchuthan Shanmugasundram Phenotypes for gene: FOXR1 were changed from Global developmental delay, HP:0001263; microcephaly, MONDO:0001149; Brain atrophy, HP:0012444 to Global developmental delay, HP:0001263; microcephaly, MONDO:0001149; Brain atrophy, HP:0012444
07 Jul 2023	Intellectual disability - microarray and sequencing v5.198	FOXR1	Achchuthan Shanmugasundram Phenotypes for gene: FOXR1 were changed from Global developmental delay, HP:0001263; microcephaly, MONDO:0001149; Brain atrophy, HP:0012444 to Global developmental delay, HP:0001263; microcephaly, MONDO:0001149; Brain atrophy, HP:0012444
07 Jul 2023	Intellectual disability - microarray and sequencing v5.198	FOXR1	Achchuthan Shanmugasundram Phenotypes for gene: FOXR1 were changed from Global developmental delay, HP:0001263; microcephaly, MONDO:0001149; Brain atrophy, HP:0012444 to Global developmental delay, HP:0001263; microcephaly, MONDO:0001149; Brain atrophy, HP:0012444
07 Jul 2023	Intellectual disability - microarray and sequencing v5.197	FOXR1	Achchuthan Shanmugasundram Phenotypes for gene: FOXR1 were changed from Global developmental delay, HP:0001263; microcephaly, MONDO:0001149; Brain atrophy, HP:0012444 to Global developmental delay, HP:0001263; microcephaly, MONDO:0001149; Brain atrophy, HP:0012444
07 Jul 2023	Intellectual disability - microarray and sequencing v5.197	FOXR1	Achchuthan Shanmugasundram Phenotypes for gene: FOXR1 were changed from Postnatal microcephaly, progressive brain atrophy and global developmental delay to Global developmental delay, HP:0001263; microcephaly, MONDO:0001149; Brain atrophy, HP:0012444
07 Jul 2023	Intellectual disability - microarray and sequencing v5.196	FOXR1	Achchuthan Shanmugasundram edited their review of gene: FOXR1: Changed phenotypes to: Global developmental delay, HP:0001263, microcephaly, MONDO:0001149, Brain atrophy, HP:0012444
07 Jul 2023	Intellectual disability - microarray and sequencing v5.196	FOXR1	Achchuthan Shanmugasundram reviewed gene: FOXR1: Rating: AMBER; Mode of pathogenicity: None; Publications: 34723967; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
06 Jul 2023	Intellectual disability - microarray and sequencing v5.196	KDM6B	Sarah Leigh Phenotypes for gene: KDM6B were changed from Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities, 618505 to Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities, OMIM:618505; neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities, MONDO:0032790
06 Jul 2023	Intellectual disability - microarray and sequencing v5.195	KDM6B	Sarah Leigh Publications for gene: KDM6B were set to 21937992; 31124279
05 Jul 2023	Intellectual disability - microarray and sequencing v5.194	DALRD3	Arina Puzriakova Classified gene: DALRD3 as Amber List (moderate evidence)
05 Jul 2023	Intellectual disability - microarray and sequencing v5.194	DALRD3	Arina Puzriakova Added comment: Comment on list classification: New gene added by Konstantinos Varvagiannis. Rating Amber as this is a good candidate gene but only a single family has been reported to date with variants. Additional evidence needed prior to adding the gene as diagnostic-grade.
05 Jul 2023	Intellectual disability - microarray and sequencing v5.194	DALRD3	Arina Puzriakova Gene: dalrd3 has been classified as Amber List (Moderate Evidence).
04 Jul 2023	Intellectual disability - microarray and sequencing v5.193	SMCHD1	Arina Puzriakova Mode of inheritance for gene: SMCHD1 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
24 Jun 2023	Intellectual disability - microarray and sequencing v5.191	PSMC3	Dmitrijs Rots gene: PSMC3 was added gene: PSMC3 was added to Intellectual disability - microarray and sequencing. Sources: Literature Mode of inheritance for gene: PSMC3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PSMC3 were set to PMID: 37256937 Phenotypes for gene: PSMC3 were set to neurodevelopmental delay Mode of pathogenicity for gene: PSMC3 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments Review for gene: PSMC3 was set to GREEN Added comment: 23 individuals with NDD due to 15 different de novo missense variants in PMID: 37256937. Sources: Literature
21 Jun 2023	Intellectual disability - microarray and sequencing v5.191	MKL2	Dmitrijs Rots gene: MKL2 was added gene: MKL2 was added to Intellectual disability - microarray and sequencing. Sources: Literature Mode of inheritance for gene: MKL2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: MKL2 were set to PMID:37013900 Phenotypes for gene: MKL2 were set to neurodevelopmental phenotype with dysmorphic features Mode of pathogenicity for gene: MKL2 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments Review for gene: MKL2 was set to GREEN Added comment: 2 cases with de novo missense GoF variants in MRTFB (previously known as MKL2) + functional evidence Sources: Literature
20 Jun 2023	Intellectual disability - microarray and sequencing v5.191	EIF4A2	Sarah Leigh Classified gene: EIF4A2 as Amber List (moderate evidence)
20 Jun 2023	Intellectual disability - microarray and sequencing v5.191	EIF4A2	Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rating Green at the major review.
20 Jun 2023	Intellectual disability - microarray and sequencing v5.191	EIF4A2	Sarah Leigh Gene: eif4a2 has been classified as Amber List (Moderate Evidence).
20 Jun 2023	Intellectual disability - microarray and sequencing v5.190	EIF4A2	Sarah Leigh gene: EIF4A2 was added gene: EIF4A2 was added to Intellectual disability - microarray and sequencing. Sources: Literature Q3_23_promote_green tags were added to gene: EIF4A2. Mode of inheritance for gene: EIF4A2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: EIF4A2 were set to 36528028 Phenotypes for gene: EIF4A2 were set to Neurodevelopmental disorder Review for gene: EIF4A2 was set to GREEN Added comment: EIF4A2 has not been associated with a phenotype in OMIM, Gen2Phen or Mondo at the time of reporting. PMID: 36528028 reports the findings of an international collaboration through Matchmaker Exchange, where EIF4A2 variants are found in cases with neurodevelopmental disorder characterized by intellectual disability, hypotonia, and epilepsy. A total of 15 EIF4A2 variants have been reported in PMID: 36528028, with 12 variants occurring as de novo monoallelic in 12 individuals and 3 as biallelic in two unrelated cases (one as homozygote and the other as compound heterozygous). Severe intellectual was seen in 6/10 unrelated cases where an assessment was made, epilepsy was evident in 10/14 unrelated cases and 13/14 cases had hyptonia. Functional studies were also presented and it would appear that both loss and gain functions maybe associated with EIF4A2 variants. Sources: Literature
14 Jun 2023	Intellectual disability - microarray and sequencing v5.189	TTI1	Sarah Leigh Classified gene: TTI1 as Amber List (moderate evidence)
14 Jun 2023	Intellectual disability - microarray and sequencing v5.189	TTI1	Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
14 Jun 2023	Intellectual disability - microarray and sequencing v5.189	TTI1	Sarah Leigh Gene: tti1 has been classified as Amber List (Moderate Evidence).
14 Jun 2023	Intellectual disability - microarray and sequencing v5.188	TTI1	Sarah Leigh Tag Q3_23_promote_green tag was added to gene: TTI1.
14 Jun 2023	Intellectual disability - microarray and sequencing v5.188	TTI1	Sarah Leigh gene: TTI1 was added gene: TTI1 was added to Intellectual disability - microarray and sequencing. Sources: Literature Mode of inheritance for gene: TTI1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TTI1 were set to 36724785 Phenotypes for gene: TTI1 were set to neurodevelopmental disorder with microcephaly Review for gene: TTI1 was set to GREEN Added comment: TTI1 has not previously been associated with a phenotype in OMIM, Gen2Phen or MONDO. At least 2 variants have been reported. PMID: 36724785 reported 15 TTI1 variants as either homozygotes (2 families) or compound heterozygotes (7 families) in cases with a neurodevelopmental disorder with microcephaly. In all cases the parents were heterozygous carriers of the TTI1 variant identified in the affected child. Development delay was observed in all of the families (9/9), moderate to severe intellectual disability was evident in all families where it could be assessed (8/8) and severe microcephaly was present in members of 5/9 families. Supportive functional results were also presented. Sources: Literature
13 Jun 2023	Intellectual disability - microarray and sequencing v5.187	TSPOAP1	Sarah Leigh Tag Q3_23_promote_green tag was added to gene: TSPOAP1.
13 Jun 2023	Intellectual disability - microarray and sequencing v5.187	TSPOAP1	Sarah Leigh Entity copied from Childhood onset dystonia, chorea or related movement disorder v3.13
13 Jun 2023	Intellectual disability - microarray and sequencing v5.187	TSPOAP1	Sarah Leigh gene: TSPOAP1 was added gene: TSPOAP1 was added to Intellectual disability - microarray and sequencing. Sources: Literature,Expert Review Amber Mode of inheritance for gene: TSPOAP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TSPOAP1 were set to 33539324 Phenotypes for gene: TSPOAP1 were set to Dystonia, intellectual disability and cerebellar atrophy
13 Jun 2023	Intellectual disability - microarray and sequencing v5.186	SRRM2	Sarah Leigh Added comment: Comment on publications: www.hindawi.com/journals/humu/2023/6633248
13 Jun 2023	Intellectual disability - microarray and sequencing v5.186	SRRM2	Sarah Leigh Publications for gene: SRRM2 were set to 35567594; 33057194
06 Jun 2023	Intellectual disability - microarray and sequencing v5.185	GRM7	Achchuthan Shanmugasundram Classified gene: GRM7 as Amber List (moderate evidence)
06 Jun 2023	Intellectual disability - microarray and sequencing v5.185	GRM7	Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence (six unrelated cases and supporting mouse model) for this gene to be promoted to GREEN rating at the next GMS review.
06 Jun 2023	Intellectual disability - microarray and sequencing v5.185	GRM7	Achchuthan Shanmugasundram Gene: grm7 has been classified as Amber List (Moderate Evidence).
06 Jun 2023	Intellectual disability - microarray and sequencing v5.184	GRM7	Achchuthan Shanmugasundram Publications for gene: GRM7 were set to 32248644; 32286009
06 Jun 2023	Intellectual disability - microarray and sequencing v5.184	GRM7	Achchuthan Shanmugasundram edited their review of gene: GRM7: Changed publications to: 32248644, 32286009
06 Jun 2023	Intellectual disability - microarray and sequencing v5.184	GRM7	Achchuthan Shanmugasundram Publications for gene: GRM7 were set to 32248644; 32286009
06 Jun 2023	Intellectual disability - microarray and sequencing v5.184	GRM7	Achchuthan Shanmugasundram Publications for gene: GRM7 were set to 2248644; 32286009
06 Jun 2023	Intellectual disability - microarray and sequencing v5.183	GRM7	Achchuthan Shanmugasundram Tag Q2_23_promote_green tag was added to gene: GRM7.
06 Jun 2023	Intellectual disability - microarray and sequencing v5.183	GRM7	Achchuthan Shanmugasundram gene: GRM7 was added gene: GRM7 was added to Intellectual disability - microarray and sequencing. Sources: Literature Mode of inheritance for gene: GRM7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GRM7 were set to 2248644; 32286009 Phenotypes for gene: GRM7 were set to Neurodevelopmental disorder with seizures, hypotonia, and brain abnormalities, OMIM:618922 Review for gene: GRM7 was set to GREEN Added comment: PMID:32286009 reported eleven individuals from six unrelated families identified with three different biallelic variants and presenting with a neurodevelopmental disorder comprising severe to profound global developmental delays, intellectual disability, seizures, hypotonia, microcephaly and brain abnormalities. This is also supported by functional evidence from knockout mouse models, where absence of metabotropic glutamate receptor 7 alters the phenotypes within the domains of social behavior, associative learning, motor function, epilepsy and sleep (PMID:32248644). This gene has also been associated with relevant phenotypes in both OMIM (MIM #618922) and in Gene2Phenotype (with 'strong' rating in the DD panel). Sources: Literature
06 Jun 2023	Intellectual disability - microarray and sequencing v5.182	CCDC82	Achchuthan Shanmugasundram changed review comment from: As reviewed by Konstantinos Varvagiannis, there is more than three unrelated cases with biallelic variants in CCDC82 presenting with a neurodevelopmental disorder comprising intellectual disability/ global developmental delay. Hence, this gene should be rated GREEN at the next GMS review.; to: As reviewed by Konstantinos Varvagiannis, there are more than three unrelated cases with biallelic variants in CCDC82 presenting with a neurodevelopmental disorder comprising intellectual disability/ global developmental delay. Hence, this gene should be rated GREEN at the next GMS review.
06 Jun 2023	Intellectual disability - microarray and sequencing v5.182	CCDC82	Achchuthan Shanmugasundram Tag Q2_23_promote_green tag was added to gene: CCDC82.
06 Jun 2023	Intellectual disability - microarray and sequencing v5.182	CCDC82	Achchuthan Shanmugasundram Classified gene: CCDC82 as Amber List (moderate evidence)
06 Jun 2023	Intellectual disability - microarray and sequencing v5.182	CCDC82	Achchuthan Shanmugasundram Gene: ccdc82 has been classified as Amber List (Moderate Evidence).
06 Jun 2023	Intellectual disability - microarray and sequencing v5.182	CCDC82	Achchuthan Shanmugasundram Classified gene: CCDC82 as Amber List (moderate evidence)
06 Jun 2023	Intellectual disability - microarray and sequencing v5.182	CCDC82	Achchuthan Shanmugasundram Gene: ccdc82 has been classified as Amber List (Moderate Evidence).
06 Jun 2023	Intellectual disability - microarray and sequencing v5.181	CCDC82	Achchuthan Shanmugasundram Phenotypes for gene: CCDC82 were changed from neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071 to neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071
06 Jun 2023	Intellectual disability - microarray and sequencing v5.182	CCDC82	Achchuthan Shanmugasundram Phenotypes for gene: CCDC82 were changed from neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071 to neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071
06 Jun 2023	Intellectual disability - microarray and sequencing v5.181	CCDC82	Achchuthan Shanmugasundram Phenotypes for gene: CCDC82 were changed from neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071 to neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071
06 Jun 2023	Intellectual disability - microarray and sequencing v5.181	CCDC82	Achchuthan Shanmugasundram Phenotypes for gene: CCDC82 were changed from Global developmental delay; Intellectual disability; Spastic paraparesis to neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071
06 Jun 2023	Intellectual disability - microarray and sequencing v5.180	CCDC82	Achchuthan Shanmugasundram commented on gene: CCDC82: As reviewed by Konstantinos Varvagiannis, there is more than three unrelated cases with biallelic variants in CCDC82 presenting with a neurodevelopmental disorder comprising intellectual disability/ global developmental delay. Hence, this gene should be rated GREEN at the next GMS review.
06 Jun 2023	Intellectual disability - microarray and sequencing v5.180	CCDC82	Achchuthan Shanmugasundram reviewed gene: CCDC82: Rating: GREEN; Mode of pathogenicity: None; Publications: 27457812, 28397838, 35118659, 35373332; Phenotypes: neurodevelopmental disorder, MONDO:0700092, intellectual disability, MONDO:0001071; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
06 Jun 2023	Intellectual disability - microarray and sequencing v5.180	FLNA	Sarah Leigh edited their review of gene: FLNA: Changed rating: RED
06 Jun 2023	Intellectual disability - microarray and sequencing v5.180	FLNA	Sarah Leigh reviewed gene: FLNA: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
06 Jun 2023	Intellectual disability - microarray and sequencing v5.180	FLNA	Sarah Leigh Tag Q2_23_demote_red tag was added to gene: FLNA.
06 Jun 2023	Intellectual disability - microarray and sequencing v5.180	FLNA	Sarah Leigh Publications for gene: FLNA were set to
05 Jun 2023	Intellectual disability - microarray and sequencing v5.179	UBE3C	Achchuthan Shanmugasundram Deleted their comment
05 Jun 2023	Intellectual disability - microarray and sequencing v5.179	UBE3C	Achchuthan Shanmugasundram Tag Q2_23_promote_green was removed from gene: UBE3C.
05 Jun 2023	Intellectual disability - microarray and sequencing v5.179	UBE3C	Achchuthan Shanmugasundram Classified gene: UBE3C as Amber List (moderate evidence)
05 Jun 2023	Intellectual disability - microarray and sequencing v5.179	UBE3C	Achchuthan Shanmugasundram Added comment: Comment on list classification: There are two unrelated cases associating biallelic variants in UBE3C gene with intellectual disability. Hence, this gene should be rated AMBER.
05 Jun 2023	Intellectual disability - microarray and sequencing v5.179	UBE3C	Achchuthan Shanmugasundram Gene: ube3c has been classified as Amber List (Moderate Evidence).
05 Jun 2023	Intellectual disability - microarray and sequencing v5.179	UBE3C	Achchuthan Shanmugasundram Classified gene: UBE3C as Amber List (moderate evidence)
05 Jun 2023	Intellectual disability - microarray and sequencing v5.179	UBE3C	Achchuthan Shanmugasundram Added comment: Comment on list classification: There are two unrelated cases associating biallelic variants in UBE3C gene with intellectual disability. Hence, this gene should be rated AMBER.
05 Jun 2023	Intellectual disability - microarray and sequencing v5.179	UBE3C	Achchuthan Shanmugasundram Gene: ube3c has been classified as Amber List (Moderate Evidence).
05 Jun 2023	Intellectual disability - microarray and sequencing v5.178	UBE3C	Achchuthan Shanmugasundram Tag Q2_23_promote_green tag was added to gene: UBE3C.
05 Jun 2023	Intellectual disability - microarray and sequencing v5.178	UBE3C	Achchuthan Shanmugasundram gene: UBE3C was added gene: UBE3C was added to Intellectual disability - microarray and sequencing. Sources: Literature Mode of inheritance for gene: UBE3C was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: UBE3C were set to 36401616 Phenotypes for gene: UBE3C were set to Neurodevelopmental disorder with absent speech and movement and behavioral abnormalities, OMIM:620270 Review for gene: UBE3C was set to AMBER Added comment: PMID:36401616 reported three patients from two unrelated families with homozygous variants in UBE3C gene and presenting with syndromic neurodevelopmental, seizure, and movement disorders and neurobehavioral phenotypes. All three patients had severe intellectual disability. The RNA studies in some patients with LoF variants provided evidence for the LoF effect. Sources: Literature
05 Jun 2023	Intellectual disability - microarray and sequencing v5.177	HECTD4	Achchuthan Shanmugasundram Classified gene: HECTD4 as Amber List (moderate evidence)
05 Jun 2023	Intellectual disability - microarray and sequencing v5.177	HECTD4	Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence (five unrelated families) for this gene to be promoted to GREEN rating at the next major update.
05 Jun 2023	Intellectual disability - microarray and sequencing v5.177	HECTD4	Achchuthan Shanmugasundram Gene: hectd4 has been classified as Amber List (Moderate Evidence).
05 Jun 2023	Intellectual disability - microarray and sequencing v5.177	HECTD4	Achchuthan Shanmugasundram Classified gene: HECTD4 as Amber List (moderate evidence)
05 Jun 2023	Intellectual disability - microarray and sequencing v5.177	HECTD4	Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence (five unrelated families) for this gene to be promoted to GREEN rating at the next major update.
05 Jun 2023	Intellectual disability - microarray and sequencing v5.177	HECTD4	Achchuthan Shanmugasundram Gene: hectd4 has been classified as Amber List (Moderate Evidence).
05 Jun 2023	Intellectual disability - microarray and sequencing v5.177	HECTD4	Achchuthan Shanmugasundram Deleted their comment
05 Jun 2023	Intellectual disability - microarray and sequencing v5.177	HECTD4	Achchuthan Shanmugasundram Classified gene: HECTD4 as Amber List (moderate evidence)
05 Jun 2023	Intellectual disability - microarray and sequencing v5.177	HECTD4	Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence (five unrelated families) for this gene to be promoted to GREEN rating at the next major update.
05 Jun 2023	Intellectual disability - microarray and sequencing v5.177	HECTD4	Achchuthan Shanmugasundram Gene: hectd4 has been classified as Amber List (Moderate Evidence).
05 Jun 2023	Intellectual disability - microarray and sequencing v5.176	HECTD4	Achchuthan Shanmugasundram Tag Q2_23_promote_green tag was added to gene: HECTD4.
05 Jun 2023	Intellectual disability - microarray and sequencing v5.176	HECTD4	Achchuthan Shanmugasundram Classified gene: HECTD4 as Amber List (moderate evidence)
05 Jun 2023	Intellectual disability - microarray and sequencing v5.176	HECTD4	Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence (five unrelated families) for this gene to be promoted to GREEN rating at the next major update.
05 Jun 2023	Intellectual disability - microarray and sequencing v5.176	HECTD4	Achchuthan Shanmugasundram Gene: hectd4 has been classified as Amber List (Moderate Evidence).
05 Jun 2023	Intellectual disability - microarray and sequencing v5.175	HECTD4	Achchuthan Shanmugasundram gene: HECTD4 was added gene: HECTD4 was added to Intellectual disability - microarray and sequencing. Sources: Literature Mode of inheritance for gene: HECTD4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HECTD4 were set to 36401616 Phenotypes for gene: HECTD4 were set to Neurodevelopmental disorder with seizures, spasticity, and complete or partial agenesis of the corpus callosum, OMIM:620250 Review for gene: HECTD4 was set to GREEN Added comment: PMID:36401616 reported seven patients from five unrelated families with either homozygous (3 families) or compound heterozygous variants (2 families) in HECTD4 gene and presenting with syndromic neurodevelopmental, seizure, and movement disorders and neurobehavioral phenotypes. All seven patients had severe (4 cases) or moderate (3 cases) intellectual disability. Sources: Literature
01 Jun 2023	Intellectual disability - microarray and sequencing v5.174	TRA2B	Achchuthan Shanmugasundram Classified gene: TRA2B as Amber List (moderate evidence)
01 Jun 2023	Intellectual disability - microarray and sequencing v5.174	TRA2B	Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence (11 unrelated cases) for this gene to be rated GREEN at the next GMS review.
01 Jun 2023	Intellectual disability - microarray and sequencing v5.174	TRA2B	Achchuthan Shanmugasundram Gene: tra2b has been classified as Amber List (Moderate Evidence).
01 Jun 2023	Intellectual disability - microarray and sequencing v5.174	TRA2B	Achchuthan Shanmugasundram Classified gene: TRA2B as Amber List (moderate evidence)
01 Jun 2023	Intellectual disability - microarray and sequencing v5.174	TRA2B	Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence (11 unrelated cases) for this gene to be rated GREEN at the next GMS review.
01 Jun 2023	Intellectual disability - microarray and sequencing v5.174	TRA2B	Achchuthan Shanmugasundram Gene: tra2b has been classified as Amber List (Moderate Evidence).
01 Jun 2023	Intellectual disability - microarray and sequencing v5.174	TRA2B	Achchuthan Shanmugasundram Classified gene: TRA2B as Amber List (moderate evidence)
01 Jun 2023	Intellectual disability - microarray and sequencing v5.174	TRA2B	Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence (11 unrelated cases) for this gene to be rated GREEN at the next GMS review.
01 Jun 2023	Intellectual disability - microarray and sequencing v5.174	TRA2B	Achchuthan Shanmugasundram Gene: tra2b has been classified as Amber List (Moderate Evidence).
01 Jun 2023	Intellectual disability - microarray and sequencing v5.174	TRA2B	Achchuthan Shanmugasundram Deleted their comment
01 Jun 2023	Intellectual disability - microarray and sequencing v5.174	TRA2B	Achchuthan Shanmugasundram Deleted their comment
01 Jun 2023	Intellectual disability - microarray and sequencing v5.174	TRA2B	Achchuthan Shanmugasundram Classified gene: TRA2B as Amber List (moderate evidence)
01 Jun 2023	Intellectual disability - microarray and sequencing v5.174	TRA2B	Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence (11 unrelated cases) for this gene to be rated GREEN at the next GMS review.
01 Jun 2023	Intellectual disability - microarray and sequencing v5.174	TRA2B	Achchuthan Shanmugasundram Gene: tra2b has been classified as Amber List (Moderate Evidence).
01 Jun 2023	Intellectual disability - microarray and sequencing v5.173	TRA2B	Achchuthan Shanmugasundram Classified gene: TRA2B as Amber List (moderate evidence)
01 Jun 2023	Intellectual disability - microarray and sequencing v5.173	TRA2B	Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence (11 unrelated cases) for this gene to be rated GREEN at the next GMS review.
01 Jun 2023	Intellectual disability - microarray and sequencing v5.173	TRA2B	Achchuthan Shanmugasundram Gene: tra2b has been classified as Amber List (Moderate Evidence).
01 Jun 2023	Intellectual disability - microarray and sequencing v5.173	TRA2B	Achchuthan Shanmugasundram Classified gene: TRA2B as Amber List (moderate evidence)
01 Jun 2023	Intellectual disability - microarray and sequencing v5.173	TRA2B	Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence (11 unrelated cases) for this gene to be rated GREEN at the next GMS review.
01 Jun 2023	Intellectual disability - microarray and sequencing v5.173	TRA2B	Achchuthan Shanmugasundram Gene: tra2b has been classified as Amber List (Moderate Evidence).
01 Jun 2023	Intellectual disability - microarray and sequencing v5.172	TRA2B	Achchuthan Shanmugasundram Tag Q2_23_promote_green tag was added to gene: TRA2B.
01 Jun 2023	Intellectual disability - microarray and sequencing v5.172	TRA2B	Achchuthan Shanmugasundram Phenotypes for gene: TRA2B were changed from neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071 to neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071
01 Jun 2023	Intellectual disability - microarray and sequencing v5.172	TRA2B	Achchuthan Shanmugasundram Phenotypes for gene: TRA2B were changed from neurodevelopmental disorder, MONDO:0700092; epilepsy, MONDO:0005027 to neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071
01 Jun 2023	Intellectual disability - microarray and sequencing v5.171	TRA2B	Achchuthan Shanmugasundram edited their review of gene: TRA2B: Changed phenotypes to: neurodevelopmental disorder, MONDO:0700092, intellectual disability, MONDO:0001071
01 Jun 2023	Intellectual disability - microarray and sequencing v5.171	TRA2B	Achchuthan Shanmugasundram changed review comment from: This gene has already been associated with phenotypes in Gene2Phenotype (with 'moderate' rating in the DD panel), but not in OMIM. Sources: Literature; to: PMID:36549593 reported 12 individuals from 11 unrelated families identified with 11 different heterozygous variants in TRA2B gene. The variants arose de novo in 10 families, while the variant was inherited from father to son in one family. 6 variants were expected to disrupt the translation start site in exon 1 (start-loss variants), 3 were expected to disrupt the splicing process at the exon 2/3 boundary (splice-affecting variants), and the remaining 2 were expected to produce a premature stop codon (truncating variants). These patients presented with a neurodevelopmental disorder comprising developmental delay/ intellectual disability (in all patients), axial or global hypotonia (10 patients), delayed motor milestones (all patients), behavioural issues (8 patients), speech impairment (9 patients), epilepsy (7 patients, initial presentation as infantile spasms in 6 and unclassified epileptic encephalopathy in 1), brain abnormalities (10 patients) and microcephaly (5 patients). The degree of ID was severe to profound for 6 individuals, moderate to severe for 2 and mild to moderate for 3. In addition, functional studies in mice showed that heterozygous knockout mice developed normal, while complete knockout mice cannot develop embryonically. This gene has already been associated with phenotypes in Gene2Phenotype (with 'moderate' rating in the DD panel), but not in OMIM. Sources: Literature
01 Jun 2023	Intellectual disability - microarray and sequencing v5.171	TRA2B	Achchuthan Shanmugasundram gene: TRA2B was added gene: TRA2B was added to Intellectual disability - microarray and sequencing. Sources: Literature Mode of inheritance for gene: TRA2B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TRA2B were set to 36549593 Phenotypes for gene: TRA2B were set to neurodevelopmental disorder, MONDO:0700092; epilepsy, MONDO:0005027 Review for gene: TRA2B was set to GREEN Added comment: This gene has already been associated with phenotypes in Gene2Phenotype (with 'moderate' rating in the DD panel), but not in OMIM. Sources: Literature
01 Jun 2023	Intellectual disability - microarray and sequencing v5.170	ZMYND8	Achchuthan Shanmugasundram Deleted their comment
01 Jun 2023	Intellectual disability - microarray and sequencing v5.170	ZMYND8	Achchuthan Shanmugasundram Deleted their comment
01 Jun 2023	Intellectual disability - microarray and sequencing v5.170	ZMYND8	Achchuthan Shanmugasundram Deleted their comment
01 Jun 2023	Intellectual disability - microarray and sequencing v5.170	ATG4D	Dmitrijs Rots gene: ATG4D was added gene: ATG4D was added to Intellectual disability - microarray and sequencing. Sources: Literature Mode of inheritance for gene: ATG4D was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ATG4D were set to 36765070 Phenotypes for gene: ATG4D were set to neurodevelopmental disorder characterized by speech and motor impairment Review for gene: ATG4D was set to GREEN Added comment: Morimoto et al., described 3 cases from 2 families with ATG4D biallelic variants and provided some functional evidence. No data about homozygous or compound heterozygous with two rare variants in ATG4D in gnomAD database. Sources: Literature
31 May 2023	Intellectual disability - microarray and sequencing v5.170	CLDN5	Achchuthan Shanmugasundram Deleted their comment
31 May 2023	Intellectual disability - microarray and sequencing v5.170	CLDN5	Achchuthan Shanmugasundram Deleted their comment
31 May 2023	Intellectual disability - microarray and sequencing v5.170	CLDN5	Achchuthan Shanmugasundram Classified gene: CLDN5 as Amber List (moderate evidence)
31 May 2023	Intellectual disability - microarray and sequencing v5.170	CLDN5	Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence for this gene to be rated GREEN in the next GMS review.
31 May 2023	Intellectual disability - microarray and sequencing v5.170	CLDN5	Achchuthan Shanmugasundram Gene: cldn5 has been classified as Amber List (Moderate Evidence).
31 May 2023	Intellectual disability - microarray and sequencing v5.170	CLDN5	Achchuthan Shanmugasundram Tag Q2_23_promote_green tag was added to gene: CLDN5.
31 May 2023	Intellectual disability - microarray and sequencing v5.170	CLDN5	Achchuthan Shanmugasundram Classified gene: CLDN5 as Amber List (moderate evidence)
31 May 2023	Intellectual disability - microarray and sequencing v5.170	CLDN5	Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence for this gene to be rated GREEN in the next GMS review.
31 May 2023	Intellectual disability - microarray and sequencing v5.170	CLDN5	Achchuthan Shanmugasundram Gene: cldn5 has been classified as Amber List (Moderate Evidence).
31 May 2023	Intellectual disability - microarray and sequencing v5.169	CLDN5	Achchuthan Shanmugasundram Deleted their comment
31 May 2023	Intellectual disability - microarray and sequencing v5.169	CLDN5	Achchuthan Shanmugasundram Classified gene: CLDN5 as Amber List (moderate evidence)
31 May 2023	Intellectual disability - microarray and sequencing v5.169	CLDN5	Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence for this gene to be rated GREEN in the next GMS review.
31 May 2023	Intellectual disability - microarray and sequencing v5.169	CLDN5	Achchuthan Shanmugasundram Gene: cldn5 has been classified as Amber List (Moderate Evidence).
31 May 2023	Intellectual disability - microarray and sequencing v5.169	CLDN5	Achchuthan Shanmugasundram Deleted their comment
31 May 2023	Intellectual disability - microarray and sequencing v5.169	CLDN5	Achchuthan Shanmugasundram Classified gene: CLDN5 as Amber List (moderate evidence)
31 May 2023	Intellectual disability - microarray and sequencing v5.169	CLDN5	Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence for this gene to be rated GREEN in the next GMS review.
31 May 2023	Intellectual disability - microarray and sequencing v5.169	CLDN5	Achchuthan Shanmugasundram Gene: cldn5 has been classified as Amber List (Moderate Evidence).
31 May 2023	Intellectual disability - microarray and sequencing v5.169	CLDN5	Achchuthan Shanmugasundram Classified gene: CLDN5 as Amber List (moderate evidence)
31 May 2023	Intellectual disability - microarray and sequencing v5.169	CLDN5	Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence for this gene to be rated GREEN in the next GMS review.
31 May 2023	Intellectual disability - microarray and sequencing v5.169	CLDN5	Achchuthan Shanmugasundram Gene: cldn5 has been classified as Amber List (Moderate Evidence).
31 May 2023	Intellectual disability - microarray and sequencing v5.168	CLDN5	Achchuthan Shanmugasundram Phenotypes for gene: CLDN5 were changed from intellectual disability, MONDO:0001071 to intellectual disability, MONDO:0001071
31 May 2023	Intellectual disability - microarray and sequencing v5.168	CLDN5	Achchuthan Shanmugasundram Phenotypes for gene: CLDN5 were changed from intellectual disability, MONDO:0001071 to intellectual disability, MONDO:0001071
31 May 2023	Intellectual disability - microarray and sequencing v5.168	CLDN5	Achchuthan Shanmugasundram Phenotypes for gene: CLDN5 were changed from intellectual disability, MONDO:0001071 to intellectual disability, MONDO:0001071
31 May 2023	Intellectual disability - microarray and sequencing v5.167	CLDN5	Achchuthan Shanmugasundram Phenotypes for gene: CLDN5 were changed from epilepsy, MONDO:0005027 to intellectual disability, MONDO:0001071
31 May 2023	Intellectual disability - microarray and sequencing v5.166	CLDN5	Achchuthan Shanmugasundram edited their review of gene: CLDN5: Changed phenotypes to: intellectual disability, MONDO:0001071
31 May 2023	Intellectual disability - microarray and sequencing v5.166	CLDN5	Achchuthan Shanmugasundram changed review comment from: PMID: 36477332 identified de novo heterozygous missense variants in CLDN5 in fifteen unrelated patients who presented with a shared constellation of features including developmental delay, seizures (primarily infantile onset focal epilepsy), microcephaly and a recognizable pattern of pontine atrophy and brain calcifications. Sources: Literature; to: PMID:36477332 reported the identification of de novo heterozygous missense variants in CLDN5 in 15 unrelated patients who presented with a number of clinical features including developmental delay including intellectual disability, seizures (primarily infantile onset focal epilepsy), microcephaly and a recognisable pattern of pontine atrophy and brain calcifications. All seven living patients over four years of age were reported to have intellectual disability. In addition, functional studies from zebrafish model also provided parallel evidence that CLDN5 variants cause a neurodevelopmental disorder involving disruption of the blood brain barrier and impaired neuronal function. This gene has been associated with relevant phenotypes in Gene2Phenotype (CLDN5-related neurodevelopmental disorder with 'limited' rating in the DD panel), but not in OMIM. Sources: Literature
31 May 2023	Intellectual disability - microarray and sequencing v5.166	CLDN5	Achchuthan Shanmugasundram edited their review of gene: CLDN5: Changed phenotypes to: intellectual disability, MONDO:0001071tual
31 May 2023	Intellectual disability - microarray and sequencing v5.166	CLDN5	Achchuthan Shanmugasundram gene: CLDN5 was added gene: CLDN5 was added to Intellectual disability - microarray and sequencing. Sources: Literature Mode of inheritance for gene: CLDN5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CLDN5 were set to 36477332 Phenotypes for gene: CLDN5 were set to epilepsy, MONDO:0005027 Review for gene: CLDN5 was set to GREEN Added comment: PMID: 36477332 identified de novo heterozygous missense variants in CLDN5 in fifteen unrelated patients who presented with a shared constellation of features including developmental delay, seizures (primarily infantile onset focal epilepsy), microcephaly and a recognizable pattern of pontine atrophy and brain calcifications. Sources: Literature
31 May 2023	Intellectual disability - microarray and sequencing v5.165	KDM2B	Achchuthan Shanmugasundram Deleted their comment
31 May 2023	Intellectual disability - microarray and sequencing v5.165	KDM2B	Achchuthan Shanmugasundram Deleted their comment
31 May 2023	Intellectual disability - microarray and sequencing v5.165	KDM2B	Achchuthan Shanmugasundram Deleted their comment
31 May 2023	Intellectual disability - microarray and sequencing v5.165	TCEAL1	Achchuthan Shanmugasundram Classified gene: TCEAL1 as Amber List (moderate evidence)
31 May 2023	Intellectual disability - microarray and sequencing v5.165	TCEAL1	Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence (7 unrelated cases) for this gene to be rated GREEN at the next GMS review.
31 May 2023	Intellectual disability - microarray and sequencing v5.165	TCEAL1	Achchuthan Shanmugasundram Gene: tceal1 has been classified as Amber List (Moderate Evidence).
31 May 2023	Intellectual disability - microarray and sequencing v5.165	TCEAL1	Achchuthan Shanmugasundram Deleted their comment
31 May 2023	Intellectual disability - microarray and sequencing v5.165	TCEAL1	Achchuthan Shanmugasundram Classified gene: TCEAL1 as Amber List (moderate evidence)
31 May 2023	Intellectual disability - microarray and sequencing v5.165	TCEAL1	Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence (7 unrelated cases) for this gene to be rated GREEN at the next GMS review.
31 May 2023	Intellectual disability - microarray and sequencing v5.165	TCEAL1	Achchuthan Shanmugasundram Gene: tceal1 has been classified as Amber List (Moderate Evidence).
31 May 2023	Intellectual disability - microarray and sequencing v5.164	TCEAL1	Achchuthan Shanmugasundram Deleted their comment
31 May 2023	Intellectual disability - microarray and sequencing v5.164	TCEAL1	Achchuthan Shanmugasundram Classified gene: TCEAL1 as Amber List (moderate evidence)
31 May 2023	Intellectual disability - microarray and sequencing v5.164	TCEAL1	Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence (7 unrelated cases) for this gene to be rated GREEN at the next GMS review.
31 May 2023	Intellectual disability - microarray and sequencing v5.164	TCEAL1	Achchuthan Shanmugasundram Gene: tceal1 has been classified as Amber List (Moderate Evidence).
31 May 2023	Intellectual disability - microarray and sequencing v5.164	TCEAL1	Achchuthan Shanmugasundram Deleted their comment
31 May 2023	Intellectual disability - microarray and sequencing v5.164	TCEAL1	Achchuthan Shanmugasundram Classified gene: TCEAL1 as Amber List (moderate evidence)
31 May 2023	Intellectual disability - microarray and sequencing v5.164	TCEAL1	Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence (7 unrelated cases) for this gene to be rated GREEN at the next GMS review.
31 May 2023	Intellectual disability - microarray and sequencing v5.164	TCEAL1	Achchuthan Shanmugasundram Gene: tceal1 has been classified as Amber List (Moderate Evidence).
31 May 2023	Intellectual disability - microarray and sequencing v5.164	TCEAL1	Achchuthan Shanmugasundram Classified gene: TCEAL1 as Amber List (moderate evidence)
31 May 2023	Intellectual disability - microarray and sequencing v5.164	TCEAL1	Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence (7 unrelated cases) for this gene to be rated GREEN at the next GMS review.
31 May 2023	Intellectual disability - microarray and sequencing v5.164	TCEAL1	Achchuthan Shanmugasundram Gene: tceal1 has been classified as Amber List (Moderate Evidence).
31 May 2023	Intellectual disability - microarray and sequencing v5.163	TCEAL1	Achchuthan Shanmugasundram Tag Q2_23_promote_green tag was added to gene: TCEAL1.
31 May 2023	Intellectual disability - microarray and sequencing v5.163	TCEAL1	Achchuthan Shanmugasundram changed review comment from: PMID:36368327 reported seven unrelated individuals with de novo variants (2 nonsense, 2 frameshift, 2 CNVs & 1 missense variants) in TCEAL1 gene and presenting with an X-linked dominant neurodevelopmental disorder. All these seven individuals had intellectual disability (mild to severe). The other major clinical presentations include hypotonia, abnormal gait, speech impairment, autistic-like behavior, and mildly dysmorphic facial features. This gene is associated with relevant phenotypes in OMIM (MIM #301094), but not in Gene2Phenotype. Sources: Literature; to: PMID:36368327 reported seven unrelated individuals with de novo variants (2 nonsense, 2 frameshift, 2 CNVs & 1 missense variants) in TCEAL1 gene and presenting with an X-linked dominant neurodevelopmental disorder. All these seven individuals had intellectual disability (mild to severe). The other major clinical presentations include hypotonia, abnormal gait, speech impairment, autistic-like behaviour, and mildly dysmorphic facial features. This gene is associated with relevant phenotypes in OMIM (MIM #301094), but not in Gene2Phenotype. Sources: Literature
31 May 2023	Intellectual disability - microarray and sequencing v5.163	TCEAL1	Achchuthan Shanmugasundram gene: TCEAL1 was added gene: TCEAL1 was added to Intellectual disability - microarray and sequencing. Sources: Literature Mode of inheritance for gene: TCEAL1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: TCEAL1 were set to 36368327 Phenotypes for gene: TCEAL1 were set to Neurodevelopmental disorder with gait disturbance, dysmorphic facies and behavioral abnormalities, X-linked, OMIM:301094 Review for gene: TCEAL1 was set to GREEN Added comment: PMID:36368327 reported seven unrelated individuals with de novo variants (2 nonsense, 2 frameshift, 2 CNVs & 1 missense variants) in TCEAL1 gene and presenting with an X-linked dominant neurodevelopmental disorder. All these seven individuals had intellectual disability (mild to severe). The other major clinical presentations include hypotonia, abnormal gait, speech impairment, autistic-like behavior, and mildly dysmorphic facial features. This gene is associated with relevant phenotypes in OMIM (MIM #301094), but not in Gene2Phenotype. Sources: Literature
31 May 2023	Intellectual disability - microarray and sequencing v5.162	FEM1C	Achchuthan Shanmugasundram changed review comment from: Comment on list classification: This gene should be rated AMBER as there are two unrelated cases of intellectual disability reported (one in literature and another from Diagnostic Discovery initiative).; to: Comment on list classification: This gene should be rated AMBER as there are two unrelated cases of intellectual disability (one in literature and another from Diagnostic Discovery initiative).
31 May 2023	Intellectual disability - microarray and sequencing v5.162	FEM1C	Achchuthan Shanmugasundram Classified gene: FEM1C as Amber List (moderate evidence)
31 May 2023	Intellectual disability - microarray and sequencing v5.162	FEM1C	Achchuthan Shanmugasundram Added comment: Comment on list classification: This gene should be rated AMBER as there are two unrelated cases of intellectual disability reported (one in literature and another from Diagnostic Discovery initiative).
31 May 2023	Intellectual disability - microarray and sequencing v5.162	FEM1C	Achchuthan Shanmugasundram Gene: fem1c has been classified as Amber List (Moderate Evidence).
31 May 2023	Intellectual disability - microarray and sequencing v5.161	FEM1C	Achchuthan Shanmugasundram changed review comment from: This gene should be rated RED as there is only one clear case of intellectual disability reported in literature. PMID:36336956 reported a 9 year-old boy with severe global developmental delay, lack of speech, pyramidal signs and limb ataxia and identified with a heterozygous de novo missense variant c.376G>C (p.Asp126His) in the FEM1C gene. Cognitive assessment performed at 9 years of age showed that he has moderate intellectual disability. De novo variant in the same residue (p.Asp126Val) has also been associated with an uncharacterised developmental disorder in PMID:28135719. An additional case with a diagnostically reported de novo variant in this gene and a compatible phenotype including intellectual disability and ataxia was identified in the internal Genomics England Clinical Variant Archive (CVA) by the Diagnostic Discovery initiative. This gene has not yet been associated with relevant phenotypes in OMIM or in Gene2Phenotype. Sources: Literature; to: PMID:36336956 reported a 9 year-old boy with severe global developmental delay, lack of speech, pyramidal signs and limb ataxia and identified with a heterozygous de novo missense variant c.376G>C (p.Asp126His) in the FEM1C gene. Cognitive assessment performed at 9 years of age showed that he has moderate intellectual disability. De novo variant in the same residue (p.Asp126Val) has also been associated with an uncharacterised developmental disorder in PMID:28135719. An additional case with a diagnostically reported de novo variant in this gene and a compatible phenotype including intellectual disability and ataxia was identified in the internal Genomics England Clinical Variant Archive (CVA) by the Diagnostic Discovery initiative. This gene has not yet been associated with relevant phenotypes in OMIM or in Gene2Phenotype. Sources: Literature
31 May 2023	Intellectual disability - microarray and sequencing v5.161	FEM1C	Achchuthan Shanmugasundram changed review comment from: This gene should be rated RED as there is only one clear case of intellectual disability reported in literature. PMID:36336956 reported a 9 year-old boy with severe global developmental delay, lack of speech, pyramidal signs and limb ataxia and identified with a heterozygous de novo missense variant c.376G>C (p.Asp126His) in the FEM1C gene. Cognitive assessment performed at 9 years of age showed that he has moderate intellectual disability. De novo variant in the same residue (p.Asp126Val) has also been associated with an uncharacterised developmental disorder in PMID:28135719. This gene has not yet been associated with relevant phenotypes in OMIM or in Gene2Phenotype. Sources: Literature; to: This gene should be rated RED as there is only one clear case of intellectual disability reported in literature. PMID:36336956 reported a 9 year-old boy with severe global developmental delay, lack of speech, pyramidal signs and limb ataxia and identified with a heterozygous de novo missense variant c.376G>C (p.Asp126His) in the FEM1C gene. Cognitive assessment performed at 9 years of age showed that he has moderate intellectual disability. De novo variant in the same residue (p.Asp126Val) has also been associated with an uncharacterised developmental disorder in PMID:28135719. An additional case with a diagnostically reported de novo variant in this gene and a compatible phenotype including intellectual disability and ataxia was identified in the internal Genomics England Clinical Variant Archive (CVA) by the Diagnostic Discovery initiative. This gene has not yet been associated with relevant phenotypes in OMIM or in Gene2Phenotype. Sources: Literature
31 May 2023	Intellectual disability - microarray and sequencing v5.161	FEM1C	Achchuthan Shanmugasundram edited their review of gene: FEM1C: Changed rating: AMBER
30 May 2023	Intellectual disability - microarray and sequencing v5.161	POU3F2	Sarah Leigh Classified gene: POU3F2 as Amber List (moderate evidence)
30 May 2023	Intellectual disability - microarray and sequencing v5.161	POU3F2	Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
30 May 2023	Intellectual disability - microarray and sequencing v5.161	POU3F2	Sarah Leigh Gene: pou3f2 has been classified as Amber List (Moderate Evidence).
30 May 2023	Intellectual disability - microarray and sequencing v5.161	POU3F2	Sarah Leigh Classified gene: POU3F2 as Amber List (moderate evidence)
30 May 2023	Intellectual disability - microarray and sequencing v5.161	POU3F2	Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
30 May 2023	Intellectual disability - microarray and sequencing v5.161	POU3F2	Sarah Leigh Gene: pou3f2 has been classified as Amber List (Moderate Evidence).
30 May 2023	Intellectual disability - microarray and sequencing v5.160	POU3F2	Sarah Leigh gene: POU3F2 was added gene: POU3F2 was added to Intellectual disability - microarray and sequencing. Sources: Literature Q2_23_promote_green tags were added to gene: POU3F2. Mode of inheritance for gene: POU3F2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: POU3F2 were set to 37207645 Phenotypes for gene: POU3F2 were set to neurodevelopmental delay with hyperphagic obesity Review for gene: POU3F2 was set to GREEN Added comment: Not associated with a phenotype in OMIM, Gen2Phen or MONDO. PMID: 37207645 reports eight POU3F2 variants in the unrelated cases of neurodevelopmental delay with hyperphagic obesity, with no other variants detected in other candidate genes. Intellectual disability was apparent in 6/7 of these cases from infancy to early childhood. The remaining variant : NM_005604.4 c.135C>A, p.Tyr45* was found in a mother and son, where the son was classified as having intellectual disability, the mother did not. Excluding the mother and son, all of the remaining cases carrying POU3F2 variants had neurodevelopmental delay. Sources: Literature
30 May 2023	Intellectual disability - microarray and sequencing v5.159	ETFB	Sarah Leigh Publications for gene: ETFB were set to 30847515; 11980892; 25778941; 24360804; 27021474; 28489334; 30089828; 36495139
30 May 2023	Intellectual disability - microarray and sequencing v5.158	ETFB	Sarah Leigh Publications for gene: ETFB were set to 0
30 May 2023	Intellectual disability - microarray and sequencing v5.157	ETFB	Sarah Leigh Phenotypes for gene: ETFB were changed from GLUTARIC ACIDURIA TYPE 2B to Glutaric acidemia IIB, OMIM:231680; multiple acyl-CoA dehydrogenase deficiency, MONDO:0009282
30 May 2023	Intellectual disability - microarray and sequencing v5.156	ETFA	Sarah Leigh Phenotypes for gene: ETFA were changed from GLUTARIC ACIDURIA TYPE 2A to Glutaric acidemia IIA, OMIM:231680; multiple acyl-CoA dehydrogenase deficiency, MONDO:0009282
29 May 2023	Intellectual disability - microarray and sequencing v5.155	NUP214	Eleanor Williams Tag Q2_23_promote_green tag was added to gene: NUP214.
29 May 2023	Intellectual disability - microarray and sequencing v5.155	NUP214	Eleanor Williams commented on gene: NUP214: After consultation with the Genomics England clinical team it has been decided that there is just enough evidence to promote this gene to green as there are 4 unrelated families and developmental delay is reported in all.
25 May 2023	Intellectual disability - microarray and sequencing v5.155	FILIP1	Achchuthan Shanmugasundram Tag Q2_23_promote_green tag was added to gene: FILIP1.
25 May 2023	Intellectual disability - microarray and sequencing v5.155	FILIP1	Achchuthan Shanmugasundram Deleted their comment
25 May 2023	Intellectual disability - microarray and sequencing v5.155	FILIP1	Achchuthan Shanmugasundram Classified gene: FILIP1 as Amber List (moderate evidence)
25 May 2023	Intellectual disability - microarray and sequencing v5.155	FILIP1	Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence (3 unrelated families) for this gene to be promoted to GREEN rating at the next major update.
25 May 2023	Intellectual disability - microarray and sequencing v5.155	FILIP1	Achchuthan Shanmugasundram Gene: filip1 has been classified as Amber List (Moderate Evidence).
25 May 2023	Intellectual disability - microarray and sequencing v5.155	FILIP1	Achchuthan Shanmugasundram Deleted their comment
25 May 2023	Intellectual disability - microarray and sequencing v5.155	FILIP1	Achchuthan Shanmugasundram Deleted their comment
25 May 2023	Intellectual disability - microarray and sequencing v5.155	FILIP1	Achchuthan Shanmugasundram changed review comment from: PMID:36344539 reported a single male with biallelic variant in FILIP1 (c.2665C > T/ p.Arg889Ter) gene and presenting with distal arthrogryposis and mild learning disability. PMID:37163662 reported five individuals from four unrelated families with four different biallelic variants in FILIP1 gene. The main symptoms in childhood included delayed motor milestones (all four families), delayed speech development (three families), intellectual disability (three families), contractures (2 families), clubfeet (2 families) and microcephaly (2 families). As one of the patients died at the age of 13 months, intellectual disability and speech delay were not evaluated. This gene has not been associated with relevant phenotypes either in OMIM or in Gene2Phenotype. Sources: Literature; to: PMID:36344539 reported a single male with biallelic variant in FILIP1 (c.2665C > T/ p.Arg889Ter) gene and presenting with distal arthrogryposis and mild learning disability. PMID:37163662 reported five individuals from four unrelated families with four different biallelic variants in FILIP1 gene. The main symptoms in childhood included delayed motor milestones (all four families), delayed speech development (three families), intellectual disability (three families), contractures (2 families), clubfeet (2 families) and microcephaly (2 families). As one of the patients died at the age of 13 months, intellectual disability and speech delay were not evaluated. This gene has not yet been associated with relevant phenotypes either in OMIM or in Gene2Phenotype. Sources: Literature
25 May 2023	Intellectual disability - microarray and sequencing v5.155	FILIP1	Achchuthan Shanmugasundram Classified gene: FILIP1 as Amber List (moderate evidence)
25 May 2023	Intellectual disability - microarray and sequencing v5.155	FILIP1	Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence (3 unrelated families) for this gene to be promoted to GREEN rating at the next major update.
25 May 2023	Intellectual disability - microarray and sequencing v5.155	FILIP1	Achchuthan Shanmugasundram Gene: filip1 has been classified as Amber List (Moderate Evidence).
25 May 2023	Intellectual disability - microarray and sequencing v5.155	FILIP1	Achchuthan Shanmugasundram Classified gene: FILIP1 as Amber List (moderate evidence)
25 May 2023	Intellectual disability - microarray and sequencing v5.155	FILIP1	Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence (3 unrelated families) for this gene to be promoted to GREEN rating at the next major update.
25 May 2023	Intellectual disability - microarray and sequencing v5.155	FILIP1	Achchuthan Shanmugasundram Gene: filip1 has been classified as Amber List (Moderate Evidence).
25 May 2023	Intellectual disability - microarray and sequencing v5.155	FILIP1	Achchuthan Shanmugasundram Deleted their comment
25 May 2023	Intellectual disability - microarray and sequencing v5.155	FILIP1	Achchuthan Shanmugasundram Classified gene: FILIP1 as Amber List (moderate evidence)
25 May 2023	Intellectual disability - microarray and sequencing v5.155	FILIP1	Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence (3 unrelated families) for this gene to be promoted to GREEN rating at the next major update.
25 May 2023	Intellectual disability - microarray and sequencing v5.155	FILIP1	Achchuthan Shanmugasundram Gene: filip1 has been classified as Amber List (Moderate Evidence).
25 May 2023	Intellectual disability - microarray and sequencing v5.154	FILIP1	Achchuthan Shanmugasundram Deleted their comment
25 May 2023	Intellectual disability - microarray and sequencing v5.154	FILIP1	Achchuthan Shanmugasundram Classified gene: FILIP1 as Amber List (moderate evidence)
25 May 2023	Intellectual disability - microarray and sequencing v5.154	FILIP1	Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence (3 unrelated families) for this gene to be promoted to GREEN rating at the next major update.
25 May 2023	Intellectual disability - microarray and sequencing v5.154	FILIP1	Achchuthan Shanmugasundram Gene: filip1 has been classified as Amber List (Moderate Evidence).
25 May 2023	Intellectual disability - microarray and sequencing v5.154	FILIP1	Achchuthan Shanmugasundram Classified gene: FILIP1 as Amber List (moderate evidence)
25 May 2023	Intellectual disability - microarray and sequencing v5.154	FILIP1	Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence (3 unrelated families) for this gene to be promoted to GREEN rating at the next major update.
25 May 2023	Intellectual disability - microarray and sequencing v5.154	FILIP1	Achchuthan Shanmugasundram Gene: filip1 has been classified as Amber List (Moderate Evidence).
25 May 2023	Intellectual disability - microarray and sequencing v5.153	FILIP1	Achchuthan Shanmugasundram changed review comment from: Sources: Literature; to: PMID:36344539 reported a single male with biallelic variant in FILIP1 (c.2665C > T/ p.Arg889Ter) gene and presenting with distal arthrogryposis and mild learning disability. PMID:37163662 reported five individuals from four unrelated families with four different biallelic variants in FILIP1 gene. The main symptoms in childhood included delayed motor milestones (all four families), delayed speech development (three families), intellectual disability (three families), contractures (2 families), clubfeet (2 families) and microcephaly (2 families). As one of the patients died at the age of 13 months, intellectual disability and speech delay were not evaluated. This gene has not been associated with relevant phenotypes either in OMIM or in Gene2Phenotype. Sources: Literature
25 May 2023	Intellectual disability - microarray and sequencing v5.153	FILIP1	Achchuthan Shanmugasundram gene: FILIP1 was added gene: FILIP1 was added to Intellectual disability - microarray and sequencing. Sources: Literature Mode of inheritance for gene: FILIP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FILIP1 were set to 36344539; 37163662 Phenotypes for gene: FILIP1 were set to intellectual disability, MONDO:0001071 Review for gene: FILIP1 was set to GREEN Added comment: Sources: Literature
24 May 2023	Intellectual disability - microarray and sequencing v5.152	FLNA	Tracy Lester reviewed gene: FLNA: Rating: RED; Mode of pathogenicity: None; Publications: 20301392; Phenotypes: Skeletal dysplasia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
22 May 2023	Intellectual disability - microarray and sequencing v5.152	TAF4	Achchuthan Shanmugasundram changed review comment from: Comment on list classification: There is sufficient evidence available to promote this gene to GREEN at the next major update.; to: Comment on list classification: There is sufficient evidence available to promote this gene to GREEN rating at the next major update.
22 May 2023	Intellectual disability - microarray and sequencing v5.152	TAF4	Achchuthan Shanmugasundram Deleted their comment
22 May 2023	Intellectual disability - microarray and sequencing v5.152	TAF4	Achchuthan Shanmugasundram Classified gene: TAF4 as Amber List (moderate evidence)
22 May 2023	Intellectual disability - microarray and sequencing v5.152	TAF4	Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available to promote this gene to GREEN at the next major update.
22 May 2023	Intellectual disability - microarray and sequencing v5.152	TAF4	Achchuthan Shanmugasundram Gene: taf4 has been classified as Amber List (Moderate Evidence).
22 May 2023	Intellectual disability - microarray and sequencing v5.152	TAF4	Achchuthan Shanmugasundram Classified gene: TAF4 as Amber List (moderate evidence)
22 May 2023	Intellectual disability - microarray and sequencing v5.152	TAF4	Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available to promote this gene to GREEN at the next major update.
22 May 2023	Intellectual disability - microarray and sequencing v5.152	TAF4	Achchuthan Shanmugasundram Gene: taf4 has been classified as Amber List (Moderate Evidence).
22 May 2023	Intellectual disability - microarray and sequencing v5.151	INTS11	Arina Puzriakova Phenotypes for gene: INTS11 were changed from intellectual disability, MONDO:0001071 to Complex neurodevelopmental disorder, MONDO:0100038
22 May 2023	Intellectual disability - microarray and sequencing v5.150	INTS11	Arina Puzriakova commented on gene: INTS11
22 May 2023	Intellectual disability - microarray and sequencing v5.150	TAF4	Achchuthan Shanmugasundram Tag Q2_23_promote_green tag was added to gene: TAF4.
22 May 2023	Intellectual disability - microarray and sequencing v5.150	PRKACB	Arina Puzriakova Phenotypes for gene: PRKACB were changed from Postaxial hand polydactyly; Postaxial foot polydactyly; Common atrium; Atrioventricular canal defect; Narrow chest; Abnormality of the teeth; Intellectual disability to Cardioacrofacial dysplasia 2, OMIM:619143
22 May 2023	Intellectual disability - microarray and sequencing v5.149	TAF4	Achchuthan Shanmugasundram Phenotypes for gene: TAF4 were changed from intellectual disability, MONDO:0001071 to intellectual disability, MONDO:0001071
22 May 2023	Intellectual disability - microarray and sequencing v5.149	TAF4	Achchuthan Shanmugasundram Phenotypes for gene: TAF4 were changed from intellectual disability, MONDO:0001071 to intellectual disability, MONDO:0001071
22 May 2023	Intellectual disability - microarray and sequencing v5.148	TAF4	Achchuthan Shanmugasundram Phenotypes for gene: TAF4 were changed from intellectual disability, MONDO:0001071 to intellectual disability, MONDO:0001071
22 May 2023	Intellectual disability - microarray and sequencing v5.149	TAF4	Achchuthan Shanmugasundram Phenotypes for gene: TAF4 were changed from intellectual disability, MONDO:0001071 to intellectual disability, MONDO:0001071
22 May 2023	Intellectual disability - microarray and sequencing v5.147	TAF4	Achchuthan Shanmugasundram Publications for gene: TAF4 were set to 27026076; 28191890; 33875846; 35904126
22 May 2023	Intellectual disability - microarray and sequencing v5.148	TAF4	Achchuthan Shanmugasundram Phenotypes for gene: TAF4 were changed from intellectual disability, MONDO:0001071 to intellectual disability, MONDO:0001071
22 May 2023	Intellectual disability - microarray and sequencing v5.148	TAF4	Achchuthan Shanmugasundram Phenotypes for gene: TAF4 were changed from intellectual disability, MONDO:0001071 to intellectual disability, MONDO:0001071
22 May 2023	Intellectual disability - microarray and sequencing v5.148	TAF4	Achchuthan Shanmugasundram Phenotypes for gene: TAF4 were changed from intellectual disability, MONDO:0001071 to intellectual disability, MONDO:0001071
22 May 2023	Intellectual disability - microarray and sequencing v5.147	TAF4	Achchuthan Shanmugasundram Publications for gene: TAF4 were set to 27026076; 28191890; 33875846; 35904126
22 May 2023	Intellectual disability - microarray and sequencing v5.148	TAF4	Achchuthan Shanmugasundram Phenotypes for gene: TAF4 were changed from intellectual disability, MONDO:0001071 to intellectual disability, MONDO:0001071
22 May 2023	Intellectual disability - microarray and sequencing v5.148	TAF4	Achchuthan Shanmugasundram Phenotypes for gene: TAF4 were changed from intellectual disability, MONDO:0001071 to intellectual disability, MONDO:0001071
22 May 2023	Intellectual disability - microarray and sequencing v5.148	TAF4	Achchuthan Shanmugasundram Phenotypes for gene: TAF4 were changed from Developmental disorder to intellectual disability, MONDO:0001071
22 May 2023	Intellectual disability - microarray and sequencing v5.147	TAF4	Achchuthan Shanmugasundram Publications for gene: TAF4 were set to 27026076; 28191890; 33875846; 35904126
22 May 2023	Intellectual disability - microarray and sequencing v5.147	TAF4	Achchuthan Shanmugasundram Publications for gene: TAF4 were set to 27026076; 28191890; 33875846; 35904126
22 May 2023	Intellectual disability - microarray and sequencing v5.147	TAF4	Achchuthan Shanmugasundram Publications for gene: TAF4 were set to 27026076; 28191890; 33875846; 35904126
22 May 2023	Intellectual disability - microarray and sequencing v5.147	TAF4	Achchuthan Shanmugasundram Publications for gene: TAF4 were set to 27026076; 28191890; 33875846; 35904126
22 May 2023	Intellectual disability - microarray and sequencing v5.147	TAF4	Achchuthan Shanmugasundram Publications for gene: TAF4 were set to 27026076; 28191890; 33875846; 35904126
22 May 2023	Intellectual disability - microarray and sequencing v5.147	TAF4	Achchuthan Shanmugasundram Publications for gene: TAF4 were set to 33875846; 28191890; 27026076
22 May 2023	Intellectual disability - microarray and sequencing v5.146	TAF4	Achchuthan Shanmugasundram Mode of inheritance for gene: TAF4 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
22 May 2023	Intellectual disability - microarray and sequencing v5.146	TAF4	Achchuthan Shanmugasundram Mode of inheritance for gene: TAF4 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
22 May 2023	Intellectual disability - microarray and sequencing v5.146	TAF4	Achchuthan Shanmugasundram Mode of inheritance for gene: TAF4 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
22 May 2023	Intellectual disability - microarray and sequencing v5.146	TAF4	Achchuthan Shanmugasundram Mode of inheritance for gene: TAF4 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
22 May 2023	Intellectual disability - microarray and sequencing v5.146	TAF4	Achchuthan Shanmugasundram Mode of inheritance for gene: TAF4 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
22 May 2023	Intellectual disability - microarray and sequencing v5.146	TAF4	Achchuthan Shanmugasundram Mode of inheritance for gene: TAF4 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
22 May 2023	Intellectual disability - microarray and sequencing v5.145	TAF4	Achchuthan Shanmugasundram reviewed gene: TAF4: Rating: GREEN; Mode of pathogenicity: None; Publications: 28191890, 33875846, 35904126; Phenotypes: intellectual disability, MONDO:0001071; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
22 May 2023	Intellectual disability - microarray and sequencing v5.145	ZMYND8	Achchuthan Shanmugasundram Classified gene: ZMYND8 as Amber List (moderate evidence)
22 May 2023	Intellectual disability - microarray and sequencing v5.145	ZMYND8	Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence (>3 unrelated cases) for this gene to be rated GREEN at the next major update.
22 May 2023	Intellectual disability - microarray and sequencing v5.145	ZMYND8	Achchuthan Shanmugasundram Gene: zmynd8 has been classified as Amber List (Moderate Evidence).
22 May 2023	Intellectual disability - microarray and sequencing v5.145	ZMYND8	Achchuthan Shanmugasundram Classified gene: ZMYND8 as Amber List (moderate evidence)
22 May 2023	Intellectual disability - microarray and sequencing v5.145	ZMYND8	Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence (>3 unrelated cases) for this gene to be rated GREEN at the next major update.
22 May 2023	Intellectual disability - microarray and sequencing v5.145	ZMYND8	Achchuthan Shanmugasundram Gene: zmynd8 has been classified as Amber List (Moderate Evidence).
22 May 2023	Intellectual disability - microarray and sequencing v5.145	ZMYND8	Achchuthan Shanmugasundram Classified gene: ZMYND8 as Amber List (moderate evidence)
22 May 2023	Intellectual disability - microarray and sequencing v5.145	ZMYND8	Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence (>3 unrelated cases) for this gene to be rated GREEN at the next major update.
22 May 2023	Intellectual disability - microarray and sequencing v5.145	ZMYND8	Achchuthan Shanmugasundram Gene: zmynd8 has been classified as Amber List (Moderate Evidence).
22 May 2023	Intellectual disability - microarray and sequencing v5.145	ZMYND8	Achchuthan Shanmugasundram Deleted their comment
22 May 2023	Intellectual disability - microarray and sequencing v5.145	ZMYND8	Achchuthan Shanmugasundram Classified gene: ZMYND8 as Amber List (moderate evidence)
22 May 2023	Intellectual disability - microarray and sequencing v5.145	ZMYND8	Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence (>3 unrelated cases) for this gene to be rated GREEN at the next major update.
22 May 2023	Intellectual disability - microarray and sequencing v5.145	ZMYND8	Achchuthan Shanmugasundram Gene: zmynd8 has been classified as Amber List (Moderate Evidence).
22 May 2023	Intellectual disability - microarray and sequencing v5.145	ZMYND8	Achchuthan Shanmugasundram Deleted their comment
22 May 2023	Intellectual disability - microarray and sequencing v5.145	ZMYND8	Achchuthan Shanmugasundram Classified gene: ZMYND8 as Amber List (moderate evidence)
22 May 2023	Intellectual disability - microarray and sequencing v5.145	ZMYND8	Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence (>3 unrelated cases) for this gene to be rated GREEN at the next major update.
22 May 2023	Intellectual disability - microarray and sequencing v5.145	ZMYND8	Achchuthan Shanmugasundram Gene: zmynd8 has been classified as Amber List (Moderate Evidence).
22 May 2023	Intellectual disability - microarray and sequencing v5.145	ZMYND8	Achchuthan Shanmugasundram Tag Q2_23_promote_green tag was added to gene: ZMYND8.
22 May 2023	Intellectual disability - microarray and sequencing v5.145	ZMYND8	Achchuthan Shanmugasundram Classified gene: ZMYND8 as Amber List (moderate evidence)
22 May 2023	Intellectual disability - microarray and sequencing v5.145	ZMYND8	Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence (>3 unrelated cases) for this gene to be rated GREEN at the next major update.
22 May 2023	Intellectual disability - microarray and sequencing v5.145	ZMYND8	Achchuthan Shanmugasundram Gene: zmynd8 has been classified as Amber List (Moderate Evidence).
22 May 2023	Intellectual disability - microarray and sequencing v5.144	ZMYND8	Achchuthan Shanmugasundram Mode of inheritance for gene: ZMYND8 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
22 May 2023	Intellectual disability - microarray and sequencing v5.144	ZMYND8	Achchuthan Shanmugasundram Mode of inheritance for gene: ZMYND8 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
22 May 2023	Intellectual disability - microarray and sequencing v5.144	ZMYND8	Achchuthan Shanmugasundram Mode of inheritance for gene: ZMYND8 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
22 May 2023	Intellectual disability - microarray and sequencing v5.144	ZMYND8	Achchuthan Shanmugasundram Mode of inheritance for gene: ZMYND8 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
22 May 2023	Intellectual disability - microarray and sequencing v5.144	ZMYND8	Achchuthan Shanmugasundram Mode of inheritance for gene: ZMYND8 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
22 May 2023	Intellectual disability - microarray and sequencing v5.144	ZMYND8	Achchuthan Shanmugasundram Mode of inheritance for gene: ZMYND8 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
22 May 2023	Intellectual disability - microarray and sequencing v5.144	ZMYND8	Achchuthan Shanmugasundram Mode of inheritance for gene: ZMYND8 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
22 May 2023	Intellectual disability - microarray and sequencing v5.143	ZMYND8	Achchuthan Shanmugasundram edited their review of gene: ZMYND8: Added comment: As reviewed by Konstantinos Varvagiannis, PMID:35916866 reported intellectual disability in10 out of 11 unrelated cases, of which one patient had profound ID and two had moderate ID. This gene has not yet been associated with phenotypes in OMIM, but has been reported in Gene2Phenotype (with 'moderate' rating in the DD panel).; Changed phenotypes to: intellectual disability, MONDO:0001071
22 May 2023	Intellectual disability - microarray and sequencing v5.143	ZMYND8	Achchuthan Shanmugasundram reviewed gene: ZMYND8: Rating: GREEN; Mode of pathogenicity: None; Publications: 32530565, 35916866; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
22 May 2023	Intellectual disability - microarray and sequencing v5.143	ZMYND15	Achchuthan Shanmugasundram Publications for gene: ZMYND15 were set to 35916866; 32530565
22 May 2023	Intellectual disability - microarray and sequencing v5.142	ZMYND15	Achchuthan Shanmugasundram Phenotypes for gene: ZMYND15 were changed from ?Spermatogenic failure 14, OMIM:615842 to ?Spermatogenic failure 14, OMIM:615842
22 May 2023	Intellectual disability - microarray and sequencing v5.141	ZMYND15	Achchuthan Shanmugasundram Phenotypes for gene: ZMYND15 were changed from ?Spermatogenic failure 14, OMIM:615842 to ?Spermatogenic failure 14, OMIM:615842
22 May 2023	Intellectual disability - microarray and sequencing v5.143	ZMYND15	Achchuthan Shanmugasundram Phenotypes for gene: ZMYND15 were changed from ?Spermatogenic failure 14, OMIM:615842 to ?Spermatogenic failure 14, OMIM:615842
22 May 2023	Intellectual disability - microarray and sequencing v5.142	ZMYND15	Achchuthan Shanmugasundram Phenotypes for gene: ZMYND15 were changed from ?Spermatogenic failure 14, OMIM:615842 to ?Spermatogenic failure 14, OMIM:615842
22 May 2023	Intellectual disability - microarray and sequencing v5.141	ZMYND15	Achchuthan Shanmugasundram Phenotypes for gene: ZMYND15 were changed from ?Spermatogenic failure 14, OMIM:615842 to ?Spermatogenic failure 14, OMIM:615842
22 May 2023	Intellectual disability - microarray and sequencing v5.141	ZMYND15	Achchuthan Shanmugasundram Phenotypes for gene: ZMYND15 were changed from ?Spermatogenic failure 14, OMIM:615842 to ?Spermatogenic failure 14, OMIM:615842
22 May 2023	Intellectual disability - microarray and sequencing v5.142	ZMYND15	Achchuthan Shanmugasundram Phenotypes for gene: ZMYND15 were changed from ?Spermatogenic failure 14, OMIM:615842 to ?Spermatogenic failure 14, OMIM:615842
22 May 2023	Intellectual disability - microarray and sequencing v5.142	ZMYND15	Achchuthan Shanmugasundram Phenotypes for gene: ZMYND15 were changed from ?Spermatogenic failure 14, OMIM:615842 to ?Spermatogenic failure 14, OMIM:615842
22 May 2023	Intellectual disability - microarray and sequencing v5.141	ZMYND15	Achchuthan Shanmugasundram Phenotypes for gene: ZMYND15 were changed from ?Spermatogenic failure 14, OMIM:615842 to ?Spermatogenic failure 14, OMIM:615842
22 May 2023	Intellectual disability - microarray and sequencing v5.142	ZMYND15	Achchuthan Shanmugasundram Phenotypes for gene: ZMYND15 were changed from ?Spermatogenic failure 14, OMIM:615842 to ?Spermatogenic failure 14, OMIM:615842
22 May 2023	Intellectual disability - microarray and sequencing v5.141	ZMYND15	Achchuthan Shanmugasundram Phenotypes for gene: ZMYND15 were changed from ?Spermatogenic failure 14 OMIM:615842 to ?Spermatogenic failure 14, OMIM:615842
22 May 2023	Intellectual disability - microarray and sequencing v5.140	ZMYND15	Achchuthan Shanmugasundram Phenotypes for gene: ZMYND15 were changed from ?Spermatogenic failure 14, OMIM:615842 to ?Spermatogenic failure 14 OMIM:615842
22 May 2023	Intellectual disability - microarray and sequencing v5.141	ZMYND15	Achchuthan Shanmugasundram Phenotypes for gene: ZMYND15 were changed from ?Spermatogenic failure 14, OMIM:615842 to ?Spermatogenic failure 14, OMIM:615842
22 May 2023	Intellectual disability - microarray and sequencing v5.141	ZMYND15	Achchuthan Shanmugasundram Phenotypes for gene: ZMYND15 were changed from ?Spermatogenic failure 14, OMIM:615842 to ?Spermatogenic failure 14, OMIM:615842
22 May 2023	Intellectual disability - microarray and sequencing v5.141	ZMYND15	Achchuthan Shanmugasundram Phenotypes for gene: ZMYND15 were changed from ?Spermatogenic failure 14 OMIM:615842 to ?Spermatogenic failure 14, OMIM:615842
22 May 2023	Intellectual disability - microarray and sequencing v5.140	ZMYND15	Achchuthan Shanmugasundram Phenotypes for gene: ZMYND15 were changed from ?Spermatogenic failure 14 OMIM:615842 to ?Spermatogenic failure 14 OMIM:615842
22 May 2023	Intellectual disability - microarray and sequencing v5.140	ZMYND15	Achchuthan Shanmugasundram Phenotypes for gene: ZMYND15 were changed from ?Spermatogenic failure 14 OMIM:615842 to ?Spermatogenic failure 14 OMIM:615842
22 May 2023	Intellectual disability - microarray and sequencing v5.140	ZMYND15	Achchuthan Shanmugasundram Phenotypes for gene: ZMYND15 were changed from ?Spermatogenic failure 14 OMIM:615842 to ?Spermatogenic failure 14 OMIM:615842
22 May 2023	Intellectual disability - microarray and sequencing v5.140	ZMYND15	Achchuthan Shanmugasundram Phenotypes for gene: ZMYND15 were changed from ?Spermatogenic failure 14 OMIM:615842 to ?Spermatogenic failure 14 OMIM:615842
22 May 2023	Intellectual disability - microarray and sequencing v5.140	ZMYND15	Achchuthan Shanmugasundram Phenotypes for gene: ZMYND15 were changed from Delayed speech and language development; Motor delay; Intellectual disability; Abnormality of cardiovascular system morphology; Hearing abnormality; Abnormality of vision; Abnormality of the face; Seizures to ?Spermatogenic failure 14 OMIM:615842
22 May 2023	Intellectual disability - microarray and sequencing v5.139	ZMYND15	Achchuthan Shanmugasundram commented on gene: ZMYND15
22 May 2023	Intellectual disability - microarray and sequencing v5.139	ZMYND15	Achchuthan Shanmugasundram Classified gene: ZMYND15 as No list
22 May 2023	Intellectual disability - microarray and sequencing v5.139	ZMYND15	Achchuthan Shanmugasundram Gene: zmynd15 has been removed from the panel.
22 May 2023	Intellectual disability - microarray and sequencing v5.139	ZMYND15	Achchuthan Shanmugasundram Classified gene: ZMYND15 as No list
22 May 2023	Intellectual disability - microarray and sequencing v5.139	ZMYND15	Achchuthan Shanmugasundram Gene: zmynd15 has been removed from the panel.
22 May 2023	Intellectual disability - microarray and sequencing v5.139	ZMYND15	Achchuthan Shanmugasundram Classified gene: ZMYND15 as No list
22 May 2023	Intellectual disability - microarray and sequencing v5.139	ZMYND15	Achchuthan Shanmugasundram Gene: zmynd15 has been removed from the panel.
22 May 2023	Intellectual disability - microarray and sequencing v5.139	ZMYND15	Achchuthan Shanmugasundram Classified gene: ZMYND15 as No list
22 May 2023	Intellectual disability - microarray and sequencing v5.139	ZMYND15	Achchuthan Shanmugasundram Gene: zmynd15 has been removed from the panel.
22 May 2023	Intellectual disability - microarray and sequencing v5.139	ZMYND15	Achchuthan Shanmugasundram Classified gene: ZMYND15 as No list
22 May 2023	Intellectual disability - microarray and sequencing v5.139	ZMYND15	Achchuthan Shanmugasundram Gene: zmynd15 has been removed from the panel.
22 May 2023	Intellectual disability - microarray and sequencing v5.138	ZMYND15	Achchuthan Shanmugasundram Classified gene: ZMYND15 as No list
22 May 2023	Intellectual disability - microarray and sequencing v5.138	ZMYND15	Achchuthan Shanmugasundram Gene: zmynd15 has been removed from the panel.
22 May 2023	Intellectual disability - microarray and sequencing v5.138	ZMYND15	Achchuthan Shanmugasundram Classified gene: ZMYND15 as No list
22 May 2023	Intellectual disability - microarray and sequencing v5.138	ZMYND15	Achchuthan Shanmugasundram Gene: zmynd15 has been removed from the panel.
22 May 2023	Intellectual disability - microarray and sequencing v5.138	ZMYND15	Achchuthan Shanmugasundram Classified gene: ZMYND15 as No list
22 May 2023	Intellectual disability - microarray and sequencing v5.138	ZMYND15	Achchuthan Shanmugasundram Gene: zmynd15 has been removed from the panel.
22 May 2023	Intellectual disability - microarray and sequencing v5.137	ZMYND15	Achchuthan Shanmugasundram Tag curated_removed tag was added to gene: ZMYND15.
18 May 2023	Intellectual disability - microarray and sequencing v5.137	PRSS12	Achchuthan Shanmugasundram changed review comment from: Comment on gene classification - This gene should remain as Green rating as there are four unrelated cases and two different variants reported. PMID:12459588 - Two unrelated families with the same variant (4bp homozygous deletion) and with intellectual disability. Although the cases were thought to be unrelated, they had the same haplotype across the PRSS12 locus, suggesting either distant consanguinity or a founder effect in the Algerian population. PMID:25529582 - Two unrelated cases with homozygous c.2389C>T/ p.Arg797Cys variants and with severe intellectual disability reported in the Deciphering Developmental Disorders (DDD) study. In addition, this gene has been associated with intellectual disability in both OMIM (MIM #249500) and Gene2Phenotype (with 'Definitive' rating in the DD panel).; to: Comment on gene classification - This gene should remain as Green as there are four unrelated cases and two different variants reported. PMID:12459588 - Two unrelated families with the same variant (4bp homozygous deletion) and with intellectual disability. Although the cases were thought to be unrelated, they had the same haplotype across the PRSS12 locus, suggesting either distant consanguinity or a founder effect in the Algerian population. PMID:25529582 - Two unrelated cases with homozygous c.2389C>T/ p.Arg797Cys variants and with severe intellectual disability reported in the Deciphering Developmental Disorders (DDD) study. In addition, this gene has been associated with intellectual disability in both OMIM (MIM #249500) and Gene2Phenotype (with 'Definitive' rating in the DD panel).
18 May 2023	Intellectual disability - microarray and sequencing v5.137	PRSS12	Achchuthan Shanmugasundram changed review comment from: PMID:12459588 - Two unrelated families with the same variant (4bp homozygous deletion) and with intellectual disability. Although the cases were thought to be unrelated, they had the same haplotype across the PRSS12 locus, suggesting either distant consanguinity or a founder effect in the Algerian population. PMID:25529582 - Two unrelated cases with homozygous c.2389C>T/ p.Arg797Cys variants and with severe intellectual disability reported in the Deciphering Developmental Disorders (DDD) study. In addition, this gene has been associated with intellectual disability in both OMIM (MIM #249500) and Gene2Phenotype (with 'Definitive' rating in the DD panel).; to: Comment on gene classification - This gene should remain as Green rating as there are four unrelated cases and two different variants reported. PMID:12459588 - Two unrelated families with the same variant (4bp homozygous deletion) and with intellectual disability. Although the cases were thought to be unrelated, they had the same haplotype across the PRSS12 locus, suggesting either distant consanguinity or a founder effect in the Algerian population. PMID:25529582 - Two unrelated cases with homozygous c.2389C>T/ p.Arg797Cys variants and with severe intellectual disability reported in the Deciphering Developmental Disorders (DDD) study. In addition, this gene has been associated with intellectual disability in both OMIM (MIM #249500) and Gene2Phenotype (with 'Definitive' rating in the DD panel).
18 May 2023	Intellectual disability - microarray and sequencing v5.137	PRSS12	Achchuthan Shanmugasundram changed review comment from: PMID:12459588 - Two unrelated families with the same variant (4bp homozygous deletion) and with intellectual disability. Although the cases were thought to be unrelated, they had the same haplotype across the PRSS12 locus, suggesting either distant consanguinity or a founder effect in the Algerian population. PMID:25529582 - Two unrelated cases with homozygous c.2389C>T/ p.Arg797Cys variants and with severe intellectual disability reported in the Deciphering Developmental Disorders (DDD) study. In addition, this gene has been associated with intellectual disability in both OMIM (MIM #249500) and Gene2Phenotype (with 'Definitive' rating in the DD panel).; to: PMID:12459588 - Two unrelated families with the same variant (4bp homozygous deletion) and with intellectual disability. Although the cases were thought to be unrelated, they had the same haplotype across the PRSS12 locus, suggesting either distant consanguinity or a founder effect in the Algerian population. PMID:25529582 - Two unrelated cases with homozygous c.2389C>T/ p.Arg797Cys variants and with severe intellectual disability reported in the Deciphering Developmental Disorders (DDD) study. In addition, this gene has been associated with intellectual disability in both OMIM (MIM #249500) and Gene2Phenotype (with 'Definitive' rating in the DD panel).
18 May 2023	Intellectual disability - microarray and sequencing v5.137	PRSS12	Achchuthan Shanmugasundram reviewed gene: PRSS12: Rating: GREEN; Mode of pathogenicity: None; Publications: 12459588, 25529582; Phenotypes: Intellectual developmental disorder, autosomal recessive 1, OMIM:249500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
17 May 2023	Intellectual disability - microarray and sequencing v5.137	MAN2C1	Achchuthan Shanmugasundram Tag Q2_23_promote_green tag was added to gene: MAN2C1.
17 May 2023	Intellectual disability - microarray and sequencing v5.137	MAN2C1	Achchuthan Shanmugasundram Deleted their comment
17 May 2023	Intellectual disability - microarray and sequencing v5.137	MAN2C1	Achchuthan Shanmugasundram Classified gene: MAN2C1 as Amber List (moderate evidence)
17 May 2023	Intellectual disability - microarray and sequencing v5.137	MAN2C1	Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence for this gene to be promoted to GREEN at the next major update.
17 May 2023	Intellectual disability - microarray and sequencing v5.137	MAN2C1	Achchuthan Shanmugasundram Gene: man2c1 has been classified as Amber List (Moderate Evidence).
17 May 2023	Intellectual disability - microarray and sequencing v5.137	MAN2C1	Achchuthan Shanmugasundram Deleted their comment
17 May 2023	Intellectual disability - microarray and sequencing v5.137	MAN2C1	Achchuthan Shanmugasundram Deleted their comment
17 May 2023	Intellectual disability - microarray and sequencing v5.137	MAN2C1	Achchuthan Shanmugasundram Deleted their comment
17 May 2023	Intellectual disability - microarray and sequencing v5.137	MAN2C1	Achchuthan Shanmugasundram Classified gene: MAN2C1 as Amber List (moderate evidence)
17 May 2023	Intellectual disability - microarray and sequencing v5.137	MAN2C1	Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence for this gene to be promoted to GREEN at the next major update.
17 May 2023	Intellectual disability - microarray and sequencing v5.137	MAN2C1	Achchuthan Shanmugasundram Gene: man2c1 has been classified as Amber List (Moderate Evidence).
17 May 2023	Intellectual disability - microarray and sequencing v5.137	MAN2C1	Achchuthan Shanmugasundram Deleted their comment
17 May 2023	Intellectual disability - microarray and sequencing v5.137	MAN2C1	Achchuthan Shanmugasundram Deleted their comment
17 May 2023	Intellectual disability - microarray and sequencing v5.137	MAN2C1	Achchuthan Shanmugasundram Deleted their comment
17 May 2023	Intellectual disability - microarray and sequencing v5.137	MAN2C1	Achchuthan Shanmugasundram Classified gene: MAN2C1 as Amber List (moderate evidence)
17 May 2023	Intellectual disability - microarray and sequencing v5.137	MAN2C1	Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence for this gene to be promoted to GREEN at the next major update.
17 May 2023	Intellectual disability - microarray and sequencing v5.137	MAN2C1	Achchuthan Shanmugasundram Gene: man2c1 has been classified as Amber List (Moderate Evidence).
17 May 2023	Intellectual disability - microarray and sequencing v5.137	MAN2C1	Achchuthan Shanmugasundram changed review comment from: Comment on list classification: There is sufficient evidence for this gene to be promoted to GREEN at the next major update.; to: Comment on list classification: There is sufficient evidence for this gene to be promoted to GREEN rating at the next major update.
17 May 2023	Intellectual disability - microarray and sequencing v5.137	MAN2C1	Achchuthan Shanmugasundram Classified gene: MAN2C1 as Amber List (moderate evidence)
17 May 2023	Intellectual disability - microarray and sequencing v5.137	MAN2C1	Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence for this gene to be promoted to GREEN at the next major update.
17 May 2023	Intellectual disability - microarray and sequencing v5.137	MAN2C1	Achchuthan Shanmugasundram Gene: man2c1 has been classified as Amber List (Moderate Evidence).
17 May 2023	Intellectual disability - microarray and sequencing v5.137	MAN2C1	Achchuthan Shanmugasundram Classified gene: MAN2C1 as Amber List (moderate evidence)
17 May 2023	Intellectual disability - microarray and sequencing v5.137	MAN2C1	Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence for this gene to be promoted to GREEN at the next major update.
17 May 2023	Intellectual disability - microarray and sequencing v5.137	MAN2C1	Achchuthan Shanmugasundram Gene: man2c1 has been classified as Amber List (Moderate Evidence).
17 May 2023	Intellectual disability - microarray and sequencing v5.137	MAN2C1	Achchuthan Shanmugasundram Classified gene: MAN2C1 as Amber List (moderate evidence)
17 May 2023	Intellectual disability - microarray and sequencing v5.137	MAN2C1	Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence for this gene to be promoted to GREEN at the next major update.
17 May 2023	Intellectual disability - microarray and sequencing v5.137	MAN2C1	Achchuthan Shanmugasundram Gene: man2c1 has been classified as Amber List (Moderate Evidence).
17 May 2023	Intellectual disability - microarray and sequencing v5.137	MAN2C1	Achchuthan Shanmugasundram Classified gene: MAN2C1 as Amber List (moderate evidence)
17 May 2023	Intellectual disability - microarray and sequencing v5.137	MAN2C1	Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence for this gene to be promoted to GREEN at the next major update.
17 May 2023	Intellectual disability - microarray and sequencing v5.137	MAN2C1	Achchuthan Shanmugasundram Gene: man2c1 has been classified as Amber List (Moderate Evidence).
17 May 2023	Intellectual disability - microarray and sequencing v5.137	MAN2C1	Achchuthan Shanmugasundram Deleted their comment
17 May 2023	Intellectual disability - microarray and sequencing v5.137	MAN2C1	Achchuthan Shanmugasundram Classified gene: MAN2C1 as Amber List (moderate evidence)
17 May 2023	Intellectual disability - microarray and sequencing v5.137	MAN2C1	Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence for this gene to be promoted to GREEN at the next major update.
17 May 2023	Intellectual disability - microarray and sequencing v5.137	MAN2C1	Achchuthan Shanmugasundram Gene: man2c1 has been classified as Amber List (Moderate Evidence).
17 May 2023	Intellectual disability - microarray and sequencing v5.137	MAN2C1	Achchuthan Shanmugasundram Deleted their comment
17 May 2023	Intellectual disability - microarray and sequencing v5.137	MAN2C1	Achchuthan Shanmugasundram Deleted their comment
17 May 2023	Intellectual disability - microarray and sequencing v5.137	MAN2C1	Achchuthan Shanmugasundram Classified gene: MAN2C1 as Amber List (moderate evidence)
17 May 2023	Intellectual disability - microarray and sequencing v5.137	MAN2C1	Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence for this gene to be promoted to GREEN at the next major update.
17 May 2023	Intellectual disability - microarray and sequencing v5.137	MAN2C1	Achchuthan Shanmugasundram Gene: man2c1 has been classified as Amber List (Moderate Evidence).
17 May 2023	Intellectual disability - microarray and sequencing v5.137	MAN2C1	Achchuthan Shanmugasundram Classified gene: MAN2C1 as Amber List (moderate evidence)
17 May 2023	Intellectual disability - microarray and sequencing v5.137	MAN2C1	Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence for this gene to be promoted to GREEN at the next major update.
17 May 2023	Intellectual disability - microarray and sequencing v5.137	MAN2C1	Achchuthan Shanmugasundram Gene: man2c1 has been classified as Amber List (Moderate Evidence).
17 May 2023	Intellectual disability - microarray and sequencing v5.137	MAN2C1	Achchuthan Shanmugasundram Classified gene: MAN2C1 as Amber List (moderate evidence)
17 May 2023	Intellectual disability - microarray and sequencing v5.137	MAN2C1	Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence for this gene to be promoted to GREEN at the next major update.
17 May 2023	Intellectual disability - microarray and sequencing v5.137	MAN2C1	Achchuthan Shanmugasundram Gene: man2c1 has been classified as Amber List (Moderate Evidence).
17 May 2023	Intellectual disability - microarray and sequencing v5.136	MAN2C1	Achchuthan Shanmugasundram Phenotypes for gene: MAN2C1 were changed from Congenital disorder of deglycosylation 2, OMIM:619775 to Congenital disorder of deglycosylation 2, OMIM:619775
17 May 2023	Intellectual disability - microarray and sequencing v5.136	MAN2C1	Achchuthan Shanmugasundram Phenotypes for gene: MAN2C1 were changed from Congenital disorder of deglycosylation 2, OMIM:619775 to Congenital disorder of deglycosylation 2, OMIM:619775
17 May 2023	Intellectual disability - microarray and sequencing v5.136	MAN2C1	Achchuthan Shanmugasundram Phenotypes for gene: MAN2C1 were changed from Congenital disorder of deglycosylation 2, OMIM:619775 to Congenital disorder of deglycosylation 2, OMIM:619775
17 May 2023	Intellectual disability - microarray and sequencing v5.136	MAN2C1	Achchuthan Shanmugasundram Phenotypes for gene: MAN2C1 were changed from Congenital disorder of deglycosylation 2, OMIM:619775 to Congenital disorder of deglycosylation 2, OMIM:619775
17 May 2023	Intellectual disability - microarray and sequencing v5.136	MAN2C1	Achchuthan Shanmugasundram Phenotypes for gene: MAN2C1 were changed from Congenital disorder of deglycosylation 2, OMIM:619775 to Congenital disorder of deglycosylation 2, OMIM:619775
17 May 2023	Intellectual disability - microarray and sequencing v5.136	MAN2C1	Achchuthan Shanmugasundram Phenotypes for gene: MAN2C1 were changed from Congenital disorder of deglycosylation 2, OMIM:619775 to Congenital disorder of deglycosylation 2, OMIM:619775
17 May 2023	Intellectual disability - microarray and sequencing v5.136	MAN2C1	Achchuthan Shanmugasundram Phenotypes for gene: MAN2C1 were changed from Global developmental delay; Intellectual disability; Abnormality of nervous system morphology; Abnormality of the corpus callosum; Ventriculomegaly; Polymicrogyria; Abnormality of the face; Macrocephaly to Congenital disorder of deglycosylation 2, OMIM:619775
17 May 2023	Intellectual disability - microarray and sequencing v5.135	MAN2C1	Achchuthan Shanmugasundram commented on gene: MAN2C1: As reviewed by Konstantinos Varvagiannis, there are three unrelated cases reported with intellectual disability in PMID:35045343. In addition, this gene has been associated with relevant phenotypes in both OMIM (MIM #619775) and Gene2Phenotype (with 'strong' rating in DD panel).
17 May 2023	Intellectual disability - microarray and sequencing v5.135	MAN2C1	Achchuthan Shanmugasundram reviewed gene: MAN2C1: Rating: GREEN; Mode of pathogenicity: None; Publications: 35045343; Phenotypes: Congenital disorder of deglycosylation 2, OMIM:619775; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
17 May 2023	Intellectual disability - microarray and sequencing v5.135	FAAH2	Achchuthan Shanmugasundram changed review comment from: As reviewed already, there are two cases reported in PMIDs: 25885783 & 34645488. Additional cases were reported in PMIDs: 20655035 & 23352160, however without much clinical details. Hence, the rating should remain amber.; to: As reviewed already, there are two cases reported in PMIDs: 25885783 & 34645488. Additional cases were reported in PMIDs: 20655035 & 23352160, however without much clinical details. Hence, the rating should remain amber. This gene has not yet been associated with relevant phenotypes either in OMIM or in Gene2Phenotype.
17 May 2023	Intellectual disability - microarray and sequencing v5.135	FAAH2	Achchuthan Shanmugasundram Mode of inheritance for gene: FAAH2 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, biallelic mutations in females
17 May 2023	Intellectual disability - microarray and sequencing v5.135	FAAH2	Achchuthan Shanmugasundram Mode of inheritance for gene: FAAH2 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, biallelic mutations in females
17 May 2023	Intellectual disability - microarray and sequencing v5.134	FAAH2	Achchuthan Shanmugasundram Mode of inheritance for gene: FAAH2 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, biallelic mutations in females
17 May 2023	Intellectual disability - microarray and sequencing v5.135	FAAH2	Achchuthan Shanmugasundram Mode of inheritance for gene: FAAH2 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, biallelic mutations in females
17 May 2023	Intellectual disability - microarray and sequencing v5.135	FAAH2	Achchuthan Shanmugasundram Mode of inheritance for gene: FAAH2 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, biallelic mutations in females
17 May 2023	Intellectual disability - microarray and sequencing v5.134	FAAH2	Achchuthan Shanmugasundram Mode of inheritance for gene: FAAH2 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, biallelic mutations in females
17 May 2023	Intellectual disability - microarray and sequencing v5.134	FAAH2	Achchuthan Shanmugasundram Publications for gene: FAAH2 were set to 25885783; 20655035; 34645488
17 May 2023	Intellectual disability - microarray and sequencing v5.134	FAAH2	Achchuthan Shanmugasundram Mode of inheritance for gene: FAAH2 was changed from BIALLELIC, autosomal or pseudoautosomal to X-LINKED: hemizygous mutation in males, biallelic mutations in females
17 May 2023	Intellectual disability - microarray and sequencing v5.134	FAAH2	Achchuthan Shanmugasundram Publications for gene: FAAH2 were set to 25885783; 20655035; 34645488
17 May 2023	Intellectual disability - microarray and sequencing v5.134	FAAH2	Achchuthan Shanmugasundram Publications for gene: FAAH2 were set to 25885783; 20655035; 34645488
17 May 2023	Intellectual disability - microarray and sequencing v5.133	FAAH2	Achchuthan Shanmugasundram Publications for gene: FAAH2 were set to 25885783; 20655035; 34645488
17 May 2023	Intellectual disability - microarray and sequencing v5.134	FAAH2	Achchuthan Shanmugasundram Publications for gene: FAAH2 were set to 25885783; 20655035; 34645488
17 May 2023	Intellectual disability - microarray and sequencing v5.134	FAAH2	Achchuthan Shanmugasundram Publications for gene: FAAH2 were set to 25885783; 20655035; 34645488
17 May 2023	Intellectual disability - microarray and sequencing v5.134	FAAH2	Achchuthan Shanmugasundram Publications for gene: FAAH2 were set to 25885783; 20655035; 34645488
17 May 2023	Intellectual disability - microarray and sequencing v5.134	FAAH2	Achchuthan Shanmugasundram Publications for gene: FAAH2 were set to 25885783; 20655035; 34645488
17 May 2023	Intellectual disability - microarray and sequencing v5.133	FAAH2	Achchuthan Shanmugasundram Publications for gene: FAAH2 were set to 25885783; 20655035; 34645488
17 May 2023	Intellectual disability - microarray and sequencing v5.133	FAAH2	Achchuthan Shanmugasundram Publications for gene: FAAH2 were set to 25885783; 20655035
17 May 2023	Intellectual disability - microarray and sequencing v5.133	FAAH2	Achchuthan Shanmugasundram Mode of inheritance for gene: FAAH2 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
17 May 2023	Intellectual disability - microarray and sequencing v5.133	FAAH2	Achchuthan Shanmugasundram Mode of inheritance for gene: FAAH2 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to BIALLELIC, autosomal or pseudoautosomal
17 May 2023	Intellectual disability - microarray and sequencing v5.132	FAAH2	Achchuthan Shanmugasundram Mode of inheritance for gene: FAAH2 was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to X-LINKED: hemizygous mutation in males, biallelic mutations in females
17 May 2023	Intellectual disability - microarray and sequencing v5.131	FAAH2	Achchuthan Shanmugasundram reviewed gene: FAAH2: Rating: AMBER; Mode of pathogenicity: None; Publications: 25885783, 34645488; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
17 May 2023	Intellectual disability - microarray and sequencing v5.131	ITPR1	Arina Puzriakova Phenotypes for gene: ITPR1 were changed from Gillespie syndrome 206700 to Gillespie syndrome, OMIM:206700; Spinocerebellar ataxia 15, OMIM:606658; Spinocerebellar ataxia 29, congenital nonprogressive, OMIM:117360
17 May 2023	Intellectual disability - microarray and sequencing v5.130	ITPR1	Arina Puzriakova Added comment: Comment on mode of inheritance: Should be updated from 'biallelic' to 'both mono- and biallelic' at the next GMS panel update inline with the review by Tracy Lester. Although not observed in all, some patients do exhibit cognitive deficits which may be an early and severe feature. There are sufficient unrelated cases with heterozygous variants and ID (associated with either Gillespie or SCA) to warrant including this MOI on this panel.
17 May 2023	Intellectual disability - microarray and sequencing v5.130	ITPR1	Arina Puzriakova Mode of inheritance for gene: ITPR1 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
17 May 2023	Intellectual disability - microarray and sequencing v5.129	ITPR1	Arina Puzriakova Publications for gene: ITPR1 were set to 22986007
17 May 2023	Intellectual disability - microarray and sequencing v5.128	ITPR1	Arina Puzriakova Tag Q2_23_MOI tag was added to gene: ITPR1. Tag Q2_23_NHS_review tag was added to gene: ITPR1.
17 May 2023	Intellectual disability - microarray and sequencing v5.128	BLM	Arina Puzriakova Phenotypes for gene: BLM were changed from Bloom syndrome, 210900; BLOOM SYNDROME to Bloom syndrome, OMIM:210900
17 May 2023	Intellectual disability - microarray and sequencing v5.128	BLM	Arina Puzriakova Publications for gene: BLM were set to
17 May 2023	Intellectual disability - microarray and sequencing v5.127	BLM	Arina Puzriakova reviewed gene: BLM: Rating: ; Mode of pathogenicity: None; Publications: 22514588, 23552953, 36646944; Phenotypes: ; Mode of inheritance: None
17 May 2023	Intellectual disability - microarray and sequencing v5.127	NSF	Achchuthan Shanmugasundram Added comment: Comment on phenotypes: This gene is now associated with a relevant phenotype in OMIM (MIM #619340), but not in Gene2Phenotype.
17 May 2023	Intellectual disability - microarray and sequencing v5.127	NSF	Achchuthan Shanmugasundram Phenotypes for gene: NSF were changed from Developmental and epileptic encephalopathy 96, OMIM:619340 to Developmental and epileptic encephalopathy 96, OMIM:619340
17 May 2023	Intellectual disability - microarray and sequencing v5.127	NSF	Achchuthan Shanmugasundram Added comment: Comment on phenotypes: This gene is now associated with a relevant phenotype in OMIM (MIM #619340), but not in Gene2Phenotype.
17 May 2023	Intellectual disability - microarray and sequencing v5.127	NSF	Achchuthan Shanmugasundram Phenotypes for gene: NSF were changed from Developmental and epileptic encephalopathy 96, OMIM:619340 to Developmental and epileptic encephalopathy 96, OMIM:619340
17 May 2023	Intellectual disability - microarray and sequencing v5.127	NSF	Achchuthan Shanmugasundram Added comment: Comment on phenotypes: This gene is now associated with a relevant phenotype in OMIM (MIM #619340), but not in Gene2Phenotype.
17 May 2023	Intellectual disability - microarray and sequencing v5.127	NSF	Achchuthan Shanmugasundram Phenotypes for gene: NSF were changed from Developmental and epileptic encephalopathy 96, OMIM:619340 to Developmental and epileptic encephalopathy 96, OMIM:619340
17 May 2023	Intellectual disability - microarray and sequencing v5.127	NSF	Achchuthan Shanmugasundram Deleted their comment
17 May 2023	Intellectual disability - microarray and sequencing v5.127	NSF	Achchuthan Shanmugasundram Added comment: Comment on phenotypes: This gene is now associated with a relevant phenotype in OMIM (MIM #619340), but not in Gene2Phenotype.
17 May 2023	Intellectual disability - microarray and sequencing v5.127	NSF	Achchuthan Shanmugasundram Phenotypes for gene: NSF were changed from Developmental and epileptic encephalopathy 96, OMIM:619340 to Developmental and epileptic encephalopathy 96, OMIM:619340
17 May 2023	Intellectual disability - microarray and sequencing v5.126	NSF	Achchuthan Shanmugasundram Deleted their comment
17 May 2023	Intellectual disability - microarray and sequencing v5.126	NSF	Achchuthan Shanmugasundram Added comment: Comment on phenotypes: This gene is now associated with a relevant phenotype in OMIM (MIM #619340), but not in Gene2Phenotype.
17 May 2023	Intellectual disability - microarray and sequencing v5.126	NSF	Achchuthan Shanmugasundram Phenotypes for gene: NSF were changed from Developmental and epileptic encephalopathy 96, OMIM:619340 to Developmental and epileptic encephalopathy 96, OMIM:619340
17 May 2023	Intellectual disability - microarray and sequencing v5.126	NSF	Achchuthan Shanmugasundram Added comment: Comment on phenotypes: This gene is now associated with a relevant phenotype in OMIM (MIM #619340), but not in Gene2Phenotype.
17 May 2023	Intellectual disability - microarray and sequencing v5.126	NSF	Achchuthan Shanmugasundram Phenotypes for gene: NSF were changed from Seizures; EEG with burst suppression; Global developmental delay; Intellectual disability to Developmental and epileptic encephalopathy 96, OMIM:619340
17 May 2023	Intellectual disability - microarray and sequencing v5.125	NSF	Achchuthan Shanmugasundram reviewed gene: NSF: Rating: RED; Mode of pathogenicity: None; Publications: 36645181; Phenotypes: Developmental and epileptic encephalopathy 96, OMIM:619340; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
17 May 2023	Intellectual disability - microarray and sequencing v5.125	NSF	Achchuthan Shanmugasundram Publications for gene: NSF were set to 31675180; 36645181
17 May 2023	Intellectual disability - microarray and sequencing v5.125	NSF	Achchuthan Shanmugasundram Publications for gene: NSF were set to 31675180
16 May 2023	Intellectual disability - microarray and sequencing v5.124	ENTPD1	Achchuthan Shanmugasundram Publications for gene: ENTPD1 were set to 21937992; 24482476; 29691679; 30652007; 35471564; 35758610
16 May 2023	Intellectual disability - microarray and sequencing v5.124	ENTPD1	Achchuthan Shanmugasundram Publications for gene: ENTPD1 were set to 21937992; 24482476; 29691679; 30652007; 35471564; 35758610
16 May 2023	Intellectual disability - microarray and sequencing v5.124	ENTPD1	Achchuthan Shanmugasundram Publications for gene: ENTPD1 were set to 21937992; 24482476; 29691679; 30652007; 35471564; 35758610
16 May 2023	Intellectual disability - microarray and sequencing v5.124	ENTPD1	Achchuthan Shanmugasundram Publications for gene: ENTPD1 were set to 21937992; 24482476; 29691679; 30652007; 35471564
16 May 2023	Intellectual disability - microarray and sequencing v5.123	ENTPD1	Achchuthan Shanmugasundram Tag Q2_23_promote_green tag was added to gene: ENTPD1.
16 May 2023	Intellectual disability - microarray and sequencing v5.123	ENTPD1	Achchuthan Shanmugasundram changed review comment from: As reviewed by Konstantinos Varvagiannis, PMID:35471564 reported 27 cases from 17 families with a complex childhood-onset neurodevelopmental disorder characterised by intellectual disability/ developmental delay and spastic paraplegia in all individuals, white matter abnormalities in 12 individuals and epilepsy in 7 individuals. In addition, this gene has been associated with autosomal recessive intellectual developmental disorder in Gene2phenotype with 'limited' rating and ID has been included as part of the SPG64 phenotype in OMIM. ; to: As reviewed by Konstantinos Varvagiannis, PMID:35471564 reported 27 cases from 17 families with biallelic variants in ENTPD1 and with a complex childhood-onset neurodevelopmental disorder characterised by intellectual disability/ developmental delay and spastic paraplegia in all individuals, white matter abnormalities in 12 individuals and epilepsy in 7 individuals. PMID:35758610 reported two siblings with biallelic variants in ENTPD1. The proband was mildly intellectually disabled and her brother was moderately clinically disabled based on clinical observations. In addition, this gene has been associated with autosomal recessive intellectual developmental disorder in Gene2phenotype with 'limited' rating and ID has been included as part of the SPG64 phenotype in OMIM.
16 May 2023	Intellectual disability - microarray and sequencing v5.123	COASY	Sarah Leigh Phenotypes for gene: COASY were changed from Neurodegeneration with brain iron accumulation 6, OMIM:615643; neurodegeneration with brain iron accumulation 6, MONDO:0014290 to Neurodegeneration with brain iron accumulation 6, OMIM:615643; neurodegeneration with brain iron accumulation 6, MONDO:0014290; Pontocerebellar hypoplasia, type 12, OMIM:618266; pontocerebellar hypoplasia, type 12, MONDO:0032643
16 May 2023	Intellectual disability - microarray and sequencing v5.122	ENTPD1	Achchuthan Shanmugasundram edited their review of gene: ENTPD1: Changed publications to: 35471564, 35758610
16 May 2023	Intellectual disability - microarray and sequencing v5.122	COASY	Sarah Leigh Publications for gene: COASY were set to 24360804
16 May 2023	Intellectual disability - microarray and sequencing v5.121	ENTPD1	Achchuthan Shanmugasundram changed review comment from: As reviewed by Konstantinos Varvagiannis, PMID35471564 reported 27 cases from 17 families with a complex childhood-onset neurodevelopmental disorder characterised by intellectual disability/ developmental delay and spastic paraplegia in all individuals, white matter abnormalities in 12 individuals and epilepsy in 7 individuals. In addition, this gene has been associated with autosomal recessive intellectual developmental disorder in Gene2phenotype with 'limited' rating and ID has been included as part of the SPG64 phenotype in OMIM. ; to: As reviewed by Konstantinos Varvagiannis, PMID:35471564 reported 27 cases from 17 families with a complex childhood-onset neurodevelopmental disorder characterised by intellectual disability/ developmental delay and spastic paraplegia in all individuals, white matter abnormalities in 12 individuals and epilepsy in 7 individuals. In addition, this gene has been associated with autosomal recessive intellectual developmental disorder in Gene2phenotype with 'limited' rating and ID has been included as part of the SPG64 phenotype in OMIM.
16 May 2023	Intellectual disability - microarray and sequencing v5.121	ENTPD1	Achchuthan Shanmugasundram Classified gene: ENTPD1 as Amber List (moderate evidence)
16 May 2023	Intellectual disability - microarray and sequencing v5.121	ENTPD1	Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence for this gene to be promoted to Green rating at the next major update.
16 May 2023	Intellectual disability - microarray and sequencing v5.121	ENTPD1	Achchuthan Shanmugasundram Gene: entpd1 has been classified as Amber List (Moderate Evidence).
16 May 2023	Intellectual disability - microarray and sequencing v5.120	ENTPD1	Achchuthan Shanmugasundram changed review comment from: As reviewed by Konstantinos Varvagiannis, PMID35471564 reported 27 cases from 17 families with a complex childhood-onset neurodevelopmental disorder characterised by intellectual disability/ developmental delay and spastic paraplegia in all individuals, white matter abnormalities in 12 individuals and epilepsy in 7 individuals. In addition, this gene has been associated with autosomal recessive intellectual developmental disorder in Gene2phenotype with 'limited' rating and ID has been includes as part of the SPG64 phenotype in OMIM. ; to: As reviewed by Konstantinos Varvagiannis, PMID35471564 reported 27 cases from 17 families with a complex childhood-onset neurodevelopmental disorder characterised by intellectual disability/ developmental delay and spastic paraplegia in all individuals, white matter abnormalities in 12 individuals and epilepsy in 7 individuals. In addition, this gene has been associated with autosomal recessive intellectual developmental disorder in Gene2phenotype with 'limited' rating and ID has been included as part of the SPG64 phenotype in OMIM.
16 May 2023	Intellectual disability - microarray and sequencing v5.120	ENTPD1	Achchuthan Shanmugasundram changed review comment from: Comment on list classification: As reviewed by Konstantinos Varvagiannis, PMID35471564 reported 27 cases from 17 families with a complex childhood-onset neurodevelopmental disorder characterised by intellectual disability/ developmental delay and spastic paraplegia in all individuals, white matter abnormalities in 12 individuals and epilepsy in 7 individuals. Hence, this gene can be promoted to Green in the next major update.; to: As reviewed by Konstantinos Varvagiannis, PMID35471564 reported 27 cases from 17 families with a complex childhood-onset neurodevelopmental disorder characterised by intellectual disability/ developmental delay and spastic paraplegia in all individuals, white matter abnormalities in 12 individuals and epilepsy in 7 individuals. In addition, this gene has been associated with autosomal recessive intellectual developmental disorder in Gene2phenotype with 'limited' rating and ID has been includes as part of the SPG64 phenotype in OMIM.
16 May 2023	Intellectual disability - microarray and sequencing v5.120	ENTPD1	Achchuthan Shanmugasundram Publications for gene: ENTPD1 were set to 21937992; 24482476; 29691679; 30652007; 35471564
16 May 2023	Intellectual disability - microarray and sequencing v5.120	ENTPD1	Achchuthan Shanmugasundram Publications for gene: ENTPD1 were set to 21937992; 24482476; 29691679; 30652007; 35471564
16 May 2023	Intellectual disability - microarray and sequencing v5.120	ENTPD1	Achchuthan Shanmugasundram Publications for gene: ENTPD1 were set to 21937992; 24482476; 29691679; 30652007; 35471564
16 May 2023	Intellectual disability - microarray and sequencing v5.120	ENTPD1	Achchuthan Shanmugasundram Publications for gene: ENTPD1 were set to 21937992; 24482476; 29691679; 30652007; 35471564
16 May 2023	Intellectual disability - microarray and sequencing v5.120	ENTPD1	Achchuthan Shanmugasundram Publications for gene: ENTPD1 were set to 21937992; 24482476; 29691679; 30652007
16 May 2023	Intellectual disability - microarray and sequencing v5.119	ENTPD1	Achchuthan Shanmugasundram Classified gene: ENTPD1 as Amber List (moderate evidence)
16 May 2023	Intellectual disability - microarray and sequencing v5.119	ENTPD1	Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Konstantinos Varvagiannis, PMID35471564 reported 27 cases from 17 families with a complex childhood-onset neurodevelopmental disorder characterised by intellectual disability/ developmental delay and spastic paraplegia in all individuals, white matter abnormalities in 12 individuals and epilepsy in 7 individuals. Hence, this gene can be promoted to Green in the next major update.
16 May 2023	Intellectual disability - microarray and sequencing v5.119	ENTPD1	Achchuthan Shanmugasundram Gene: entpd1 has been classified as Amber List (Moderate Evidence).
16 May 2023	Intellectual disability - microarray and sequencing v5.118	ENTPD1	Achchuthan Shanmugasundram reviewed gene: ENTPD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 35471564; Phenotypes: Spastic paraplegia 64, autosomal recessive, OMIM:615683; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
11 May 2023	Intellectual disability - microarray and sequencing v5.118	COASY	Sarah Leigh Phenotypes for gene: COASY were changed from Neurodegeneration with brain iron accumulation 6, 615643 to Neurodegeneration with brain iron accumulation 6, OMIM:615643; neurodegeneration with brain iron accumulation 6, MONDO:0014290
11 May 2023	Intellectual disability - microarray and sequencing v5.117	SUFU	Arina Puzriakova Tag Q4_22_expert_review tag was added to gene: SUFU.
10 May 2023	Intellectual disability - microarray and sequencing v5.117	RNF13	Arina Puzriakova Phenotypes for gene: RNF13 were changed from Cortical visual impairment; Epileptic encephalopathy, early infantile, 73, 618379; Failure to thrive; Seizures; Congenital microcephaly; Abnormal muscle tone; Feeding difficulties; Intellectual disability; Global developmental delay; Sensorineural hearing impairment to Developmental and epileptic encephalopathy 73, OMIM:618379
10 May 2023	Intellectual disability - microarray and sequencing v5.116	CHMP3	Arina Puzriakova Classified gene: CHMP3 as Red List (low evidence)
10 May 2023	Intellectual disability - microarray and sequencing v5.116	CHMP3	Arina Puzriakova Added comment: Comment on list classification: Rating Red for now as only a single case has been reported to date.
10 May 2023	Intellectual disability - microarray and sequencing v5.116	CHMP3	Arina Puzriakova Gene: chmp3 has been classified as Red List (Low Evidence).
10 May 2023	Intellectual disability - microarray and sequencing v5.115	CHMP3	Arina Puzriakova gene: CHMP3 was added gene: CHMP3 was added to Intellectual disability - microarray and sequencing. Sources: Literature Mode of inheritance for gene: CHMP3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CHMP3 were set to 35710109 Phenotypes for gene: CHMP3 were set to Complex spastic quadriplegia associated with developmental delay and seizures Added comment: Cohen-Barak et al., 2022 (PMID: 35710109) reported on a consanguineous family, in which five individuals presented with intellectual and progressive motor disabilities, seizures and spastic quadriplegia, associated with a homozygous variant in CHMP3. Patient derived fibroblasts expressed ultrastructural and molecular features of impaired autophagy, partially rescued by ectopic expression of WT-CHMP3. Sources: Literature
10 May 2023	Intellectual disability - microarray and sequencing v5.114	RAC3	Arina Puzriakova Publications for gene: RAC3 were set to 29276006; 30293988
10 May 2023	Intellectual disability - microarray and sequencing v5.113	RAC3	Arina Puzriakova Classified gene: RAC3 as Green List (high evidence)
10 May 2023	Intellectual disability - microarray and sequencing v5.113	RAC3	Arina Puzriakova Gene: rac3 has been classified as Green List (High Evidence).
10 May 2023	Intellectual disability - microarray and sequencing v5.112	RAC3	Arina Puzriakova All sources for gene: RAC3 were removed
10 May 2023	Intellectual disability - microarray and sequencing v5.112	RAC3	Arina Puzriakova All sources for gene: RAC3 were removed
10 May 2023	Intellectual disability - microarray and sequencing v5.111	GRIN2B	Arina Puzriakova Publications for gene: GRIN2B were set to
10 May 2023	Intellectual disability - microarray and sequencing v5.110	GRIN2B	Arina Puzriakova Phenotypes for gene: GRIN2B were changed from Mental Retardation, Dominant; Mental retardation, autosomal dominant 6, 613970; AUTISM to Intellectual developmental disorder, autosomal dominant 6, with or without seizures, OMIM:613970; Developmental and epileptic encephalopathy 27, OMIM:616139
09 May 2023	Intellectual disability - microarray and sequencing v5.109	LHX2	Sarah Leigh Classified gene: LHX2 as Amber List (moderate evidence)
09 May 2023	Intellectual disability - microarray and sequencing v5.109	LHX2	Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
09 May 2023	Intellectual disability - microarray and sequencing v5.109	LHX2	Sarah Leigh Gene: lhx2 has been classified as Amber List (Moderate Evidence).
09 May 2023	Intellectual disability - microarray and sequencing v5.108	LHX2	Sarah Leigh gene: LHX2 was added gene: LHX2 was added to Intellectual disability - microarray and sequencing. Sources: Literature Q2_23_promote_green tags were added to gene: LHX2. Mode of inheritance for gene: LHX2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: LHX2 were set to 37057675 Phenotypes for gene: LHX2 were set to neurodevelopmental disorder Review for gene: LHX2 was set to GREEN Added comment: Not associated with a phenotype in OMIM, Gen2Phen or MONDO. PMID: 37057675 reports 17 predominanly de novo LHX2 variants in a panel of patients with a variable neurodevelopmental disorder. Haploinsufficiency and functional studies are supportive of a loss-of-function pathogenic action of the reported LHX2 variants. Sources: Literature
09 May 2023	Intellectual disability - microarray and sequencing v5.107	ITPR1	Tracy Lester edited their review of gene: ITPR1: Added comment: PMID:29925855 - All 7 EOA patients with ITPR1 de novo variants (3 from cohort #1; 4 from cohort #2) presented with infantile onset cerebellar ataxia starting before the age of 2 years, including delayed motor milestones (Table 2). Cognitive deficits of variable degree were observed in 3 out of 4 patients where this information was available, reaching from only mild dyscalculia (P2) to severe intellectual disability with a speech vocabulary of only a few words (P7 at age 12 years). In contrast, patient P1 showed normal intelligence with an IQ of 97. PMID:27108797 - Here, we report that both recessive and dominant ITPR1 mutations cause Gillespie syndrome. ITPR1 is a predominant isoform in the brain among the three types of ITPRs and is strongly expressed in cerebellar Purkinje cells.31 Mice with complete homozygosity for Itpr1 ablation suffer from severe epilepsy and ataxia and die either in utero or before weaning.32 Consistently, ITPR1 mutations have been reported to cause cerebellar diseases including late-onset spinocerebellar ataxia type 15 (SCA15 [MIM: 606658]),33 congenital nonprogressive spinocerebellar ataxia and mild cognitive impairment (SCA29 [MIM: 117360]),34 infantile-onset cerebellar ataxia with mild cognitive deficit,35 and childhood-onset ataxic cerebellar palsy with moderate intellectual disability36 (see ITPR1 schematic diagram in Figure 3A). Affected individuals had similar iris anomalies and neonatal ataxia with progressive cerebellar atrophy (Figure 2). Moderate to severe intellectual disabilities were noted in the three individuals with recessive mutations (F1:II1, F2:II1, and F3:II1; Table 1). In contrast, the affected individual F4:II1 aged 18 years and harboring the de novo c.7687_7689del mutation was reported to have normal intelligence (Table 1). As de novo variants are associated with ID/DD the inheritance should be updated to be BOTH AD and AR.; Set current diagnostic: yes
09 May 2023	Intellectual disability - microarray and sequencing v5.107	ITPR1	Tracy Lester reviewed gene: ITPR1: Rating: GREEN; Mode of pathogenicity: None; Publications: 29925855, 27108797; Phenotypes: developmental delay, intellectual disability, hypotonia, ataxia, cerebellar malformatons; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
04 May 2023	Intellectual disability - microarray and sequencing v5.107	SLC32A1	Achchuthan Shanmugasundram Classified gene: SLC32A1 as Amber List (moderate evidence)
04 May 2023	Intellectual disability - microarray and sequencing v5.107	SLC32A1	Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence (four unrelated cases and supporting functional studies) for this gene to be promoted to GREEN at the next GMS update.
04 May 2023	Intellectual disability - microarray and sequencing v5.107	SLC32A1	Achchuthan Shanmugasundram Gene: slc32a1 has been classified as Amber List (Moderate Evidence).
04 May 2023	Intellectual disability - microarray and sequencing v5.107	SLC32A1	Achchuthan Shanmugasundram Classified gene: SLC32A1 as Amber List (moderate evidence)
04 May 2023	Intellectual disability - microarray and sequencing v5.107	SLC32A1	Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence (four unrelated cases and supporting functional studies) for this gene to be promoted to GREEN at the next GMS update.
04 May 2023	Intellectual disability - microarray and sequencing v5.107	SLC32A1	Achchuthan Shanmugasundram Gene: slc32a1 has been classified as Amber List (Moderate Evidence).
04 May 2023	Intellectual disability - microarray and sequencing v5.107	SLC32A1	Achchuthan Shanmugasundram Classified gene: SLC32A1 as Amber List (moderate evidence)
04 May 2023	Intellectual disability - microarray and sequencing v5.107	SLC32A1	Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence (four unrelated cases and supporting functional studies) for this gene to be promoted to GREEN at the next GMS update.
04 May 2023	Intellectual disability - microarray and sequencing v5.107	SLC32A1	Achchuthan Shanmugasundram Gene: slc32a1 has been classified as Amber List (Moderate Evidence).
04 May 2023	Intellectual disability - microarray and sequencing v5.106	SLC32A1	Achchuthan Shanmugasundram Deleted their comment
04 May 2023	Intellectual disability - microarray and sequencing v5.106	SLC32A1	Achchuthan Shanmugasundram Classified gene: SLC32A1 as Amber List (moderate evidence)
04 May 2023	Intellectual disability - microarray and sequencing v5.106	SLC32A1	Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence (four unrelated cases and supporting functional studies) for this gene to be promoted to GREEN at the next GMS update.
04 May 2023	Intellectual disability - microarray and sequencing v5.106	SLC32A1	Achchuthan Shanmugasundram Gene: slc32a1 has been classified as Amber List (Moderate Evidence).
04 May 2023	Intellectual disability - microarray and sequencing v5.106	SLC32A1	Achchuthan Shanmugasundram Deleted their comment
04 May 2023	Intellectual disability - microarray and sequencing v5.106	SLC32A1	Achchuthan Shanmugasundram Classified gene: SLC32A1 as Amber List (moderate evidence)
04 May 2023	Intellectual disability - microarray and sequencing v5.106	SLC32A1	Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence (four unrelated cases and supporting functional studies) for this gene to be promoted to GREEN at the next GMS update.
04 May 2023	Intellectual disability - microarray and sequencing v5.106	SLC32A1	Achchuthan Shanmugasundram Gene: slc32a1 has been classified as Amber List (Moderate Evidence).
04 May 2023	Intellectual disability - microarray and sequencing v5.106	SLC32A1	Achchuthan Shanmugasundram Classified gene: SLC32A1 as Amber List (moderate evidence)
04 May 2023	Intellectual disability - microarray and sequencing v5.106	SLC32A1	Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence (four unrelated cases and supporting functional studies) for this gene to be promoted to GREEN at the next GMS update.
04 May 2023	Intellectual disability - microarray and sequencing v5.106	SLC32A1	Achchuthan Shanmugasundram Gene: slc32a1 has been classified as Amber List (Moderate Evidence).
04 May 2023	Intellectual disability - microarray and sequencing v5.105	SLC32A1	Achchuthan Shanmugasundram Tag Q2_23_promote_green tag was added to gene: SLC32A1.
04 May 2023	Intellectual disability - microarray and sequencing v5.105	SLC32A1	Achchuthan Shanmugasundram changed review comment from: PMID:36073542 reported four unrelated patients with four different de novo missense variants in SLC32A1 gene reported with global developmental delay, moderate-to-severe intellectual disability, infantile-onset epilepsy within the first 18 months of life, and a choreiform, dystonic, or dyskinetic movement disorder. In silico modeling and functional analyses showed that these variants can impair GABAergic neurotransmission through at least two mechanisms, by affecting synaptic vesicle filling and by altering synaptic short-term plasticity. Sources: Literature; to: PMID:36073542 reported four unrelated patients with four different de novo missense variants in SLC32A1 gene reported with global developmental delay, moderate-to-severe intellectual disability, infantile-onset epilepsy within the first 18 months of life, and a choreiform, dystonic, or dyskinetic movement disorder. In silico modeling and functional analyses showed that these variants can impair GABAergic neurotransmission through at least two mechanisms, by affecting synaptic vesicle filling and by altering synaptic short-term plasticity. Although this gene has not yet been associated with phenotypes in OMIM, it has been added to Gene2Phenotype with 'moderate' rating in the DD panel. Sources: Literature
04 May 2023	Intellectual disability - microarray and sequencing v5.105	SLC32A1	Achchuthan Shanmugasundram gene: SLC32A1 was added gene: SLC32A1 was added to Intellectual disability - microarray and sequencing. Sources: Literature Mode of inheritance for gene: SLC32A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SLC32A1 were set to 36073542 Phenotypes for gene: SLC32A1 were set to developmental and epileptic encephalopathy, MONDO:0100062 Review for gene: SLC32A1 was set to GREEN Added comment: PMID:36073542 reported four unrelated patients with four different de novo missense variants in SLC32A1 gene reported with global developmental delay, moderate-to-severe intellectual disability, infantile-onset epilepsy within the first 18 months of life, and a choreiform, dystonic, or dyskinetic movement disorder. In silico modeling and functional analyses showed that these variants can impair GABAergic neurotransmission through at least two mechanisms, by affecting synaptic vesicle filling and by altering synaptic short-term plasticity. Sources: Literature
04 May 2023	Intellectual disability - microarray and sequencing v5.104	CSTF2	Achchuthan Shanmugasundram Phenotypes for gene: CSTF2 were changed from Intellectual disability, MONDO:0001071 to Intellectual disability, MONDO:0001071
04 May 2023	Intellectual disability - microarray and sequencing v5.104	CSTF2	Achchuthan Shanmugasundram Phenotypes for gene: CSTF2 were changed from Intellectual disability, MONDO:0001071 to Intellectual disability, MONDO:0001071
04 May 2023	Intellectual disability - microarray and sequencing v5.103	CSTF2	Achchuthan Shanmugasundram Phenotypes for gene: CSTF2 were changed from Intellectual disability, MONDO:0001071 to Intellectual disability, MONDO:0001071
04 May 2023	Intellectual disability - microarray and sequencing v5.104	CSTF2	Achchuthan Shanmugasundram Phenotypes for gene: CSTF2 were changed from Intellectual disability, MONDO:0001071 to Intellectual disability, MONDO:0001071
04 May 2023	Intellectual disability - microarray and sequencing v5.104	CSTF2	Achchuthan Shanmugasundram Phenotypes for gene: CSTF2 were changed from Intellectual disability, MONDO:0001071 to Intellectual disability, MONDO:0001071
04 May 2023	Intellectual disability - microarray and sequencing v5.103	CSTF2	Achchuthan Shanmugasundram Phenotypes for gene: CSTF2 were changed from Intellectual disability, MONDO:0001071 to Intellectual disability, MONDO:0001071
04 May 2023	Intellectual disability - microarray and sequencing v5.103	CSTF2	Achchuthan Shanmugasundram Phenotypes for gene: CSTF2 were changed from Intellectual disability, MONDO:0001071 to Intellectual disability, MONDO:0001071
04 May 2023	Intellectual disability - microarray and sequencing v5.103	CSTF2	Achchuthan Shanmugasundram Phenotypes for gene: CSTF2 were changed from Intellectual disability, MONDO:0001071 to Intellectual disability, MONDO:0001071
04 May 2023	Intellectual disability - microarray and sequencing v5.103	CSTF2	Achchuthan Shanmugasundram Phenotypes for gene: CSTF2 were changed from to Intellectual disability, MONDO:0001071
04 May 2023	Intellectual disability - microarray and sequencing v5.102	CSTF2	Achchuthan Shanmugasundram Publications for gene: CSTF2 were set to 26350204; 32816001
04 May 2023	Intellectual disability - microarray and sequencing v5.102	CSTF2	Achchuthan Shanmugasundram Publications for gene: CSTF2 were set to 26350204; 32816001
04 May 2023	Intellectual disability - microarray and sequencing v5.102	CSTF2	Achchuthan Shanmugasundram Publications for gene: CSTF2 were set to 26350204; 32816001
04 May 2023	Intellectual disability - microarray and sequencing v5.102	CSTF2	Achchuthan Shanmugasundram Publications for gene: CSTF2 were set to 26350204; 32816001
04 May 2023	Intellectual disability - microarray and sequencing v5.102	CSTF2	Achchuthan Shanmugasundram Publications for gene: CSTF2 were set to 26350204; 32816001
04 May 2023	Intellectual disability - microarray and sequencing v5.102	CSTF2	Achchuthan Shanmugasundram Publications for gene: CSTF2 were set to 26350204; 32816001
04 May 2023	Intellectual disability - microarray and sequencing v5.102	CSTF2	Achchuthan Shanmugasundram Publications for gene: CSTF2 were set to 26350204
04 May 2023	Intellectual disability - microarray and sequencing v5.100	CSTF2	Achchuthan Shanmugasundram Mode of inheritance for gene: CSTF2 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, biallelic mutations in females
04 May 2023	Intellectual disability - microarray and sequencing v5.101	CSTF2	Achchuthan Shanmugasundram Mode of inheritance for gene: CSTF2 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, biallelic mutations in females
04 May 2023	Intellectual disability - microarray and sequencing v5.101	CSTF2	Achchuthan Shanmugasundram Mode of inheritance for gene: CSTF2 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, biallelic mutations in females
04 May 2023	Intellectual disability - microarray and sequencing v5.101	CSTF2	Achchuthan Shanmugasundram Mode of inheritance for gene: CSTF2 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, biallelic mutations in females
04 May 2023	Intellectual disability - microarray and sequencing v5.100	CSTF2	Achchuthan Shanmugasundram Deleted their comment
04 May 2023	Intellectual disability - microarray and sequencing v5.100	CSTF2	Achchuthan Shanmugasundram Deleted their comment
04 May 2023	Intellectual disability - microarray and sequencing v5.100	CSTF2	Achchuthan Shanmugasundram Mode of inheritance for gene: CSTF2 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, biallelic mutations in females
04 May 2023	Intellectual disability - microarray and sequencing v5.100	CSTF2	Achchuthan Shanmugasundram Deleted their comment
04 May 2023	Intellectual disability - microarray and sequencing v5.100	CSTF2	Achchuthan Shanmugasundram Deleted their comment
04 May 2023	Intellectual disability - microarray and sequencing v5.100	CSTF2	Achchuthan Shanmugasundram Deleted their comment
04 May 2023	Intellectual disability - microarray and sequencing v5.100	CSTF2	Achchuthan Shanmugasundram Classified gene: CSTF2 as Amber List (moderate evidence)
04 May 2023	Intellectual disability - microarray and sequencing v5.100	CSTF2	Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Zornitza Stark (Australian Genomics), there is one family with intellectual disability, supported by functional studies. This gene should therefore be promoted to AMBER in this panel.
04 May 2023	Intellectual disability - microarray and sequencing v5.100	CSTF2	Achchuthan Shanmugasundram Gene: cstf2 has been classified as Amber List (Moderate Evidence).
04 May 2023	Intellectual disability - microarray and sequencing v5.100	CSTF2	Achchuthan Shanmugasundram Mode of inheritance for gene: CSTF2 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, biallelic mutations in females
04 May 2023	Intellectual disability - microarray and sequencing v5.101	CSTF2	Achchuthan Shanmugasundram Mode of inheritance for gene: CSTF2 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, biallelic mutations in females
04 May 2023	Intellectual disability - microarray and sequencing v5.100	CSTF2	Achchuthan Shanmugasundram Classified gene: CSTF2 as Amber List (moderate evidence)
04 May 2023	Intellectual disability - microarray and sequencing v5.100	CSTF2	Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Zornitza Stark (Australian Genomics), there is one family with intellectual disability, supported by functional studies. This gene should therefore be promoted to AMBER in this panel.
04 May 2023	Intellectual disability - microarray and sequencing v5.100	CSTF2	Achchuthan Shanmugasundram Gene: cstf2 has been classified as Amber List (Moderate Evidence).
04 May 2023	Intellectual disability - microarray and sequencing v5.100	CSTF2	Achchuthan Shanmugasundram Classified gene: CSTF2 as Amber List (moderate evidence)
04 May 2023	Intellectual disability - microarray and sequencing v5.100	CSTF2	Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Zornitza Stark (Australian Genomics), there is one family with intellectual disability, supported by functional studies. This gene should therefore be promoted to AMBER in this panel.
04 May 2023	Intellectual disability - microarray and sequencing v5.100	CSTF2	Achchuthan Shanmugasundram Gene: cstf2 has been classified as Amber List (Moderate Evidence).
04 May 2023	Intellectual disability - microarray and sequencing v5.100	CSTF2	Achchuthan Shanmugasundram Mode of inheritance for gene: CSTF2 was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to X-LINKED: hemizygous mutation in males, biallelic mutations in females
04 May 2023	Intellectual disability - microarray and sequencing v5.99	CSTF2	Achchuthan Shanmugasundram Classified gene: CSTF2 as Amber List (moderate evidence)
04 May 2023	Intellectual disability - microarray and sequencing v5.99	CSTF2	Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Zornitza Stark (Australian Genomics), there is one family with intellectual disability, supported by functional studies. This gene should therefore be promoted to AMBER in this panel.
04 May 2023	Intellectual disability - microarray and sequencing v5.99	CSTF2	Achchuthan Shanmugasundram Gene: cstf2 has been classified as Amber List (Moderate Evidence).
04 May 2023	Intellectual disability - microarray and sequencing v5.99	CSTF2	Achchuthan Shanmugasundram Classified gene: CSTF2 as Amber List (moderate evidence)
04 May 2023	Intellectual disability - microarray and sequencing v5.99	CSTF2	Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Zornitza Stark (Australian Genomics), there is one family with intellectual disability, supported by functional studies. This gene should therefore be promoted to AMBER in this panel.
04 May 2023	Intellectual disability - microarray and sequencing v5.99	CSTF2	Achchuthan Shanmugasundram Gene: cstf2 has been classified as Amber List (Moderate Evidence).
04 May 2023	Intellectual disability - microarray and sequencing v5.99	CSTF2	Achchuthan Shanmugasundram Classified gene: CSTF2 as Amber List (moderate evidence)
04 May 2023	Intellectual disability - microarray and sequencing v5.99	CSTF2	Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Zornitza Stark (Australian Genomics), there is one family with intellectual disability, supported by functional studies. This gene should therefore be promoted to AMBER in this panel.
04 May 2023	Intellectual disability - microarray and sequencing v5.99	CSTF2	Achchuthan Shanmugasundram Gene: cstf2 has been classified as Amber List (Moderate Evidence).
04 May 2023	Intellectual disability - microarray and sequencing v5.98	CSTF2	Achchuthan Shanmugasundram reviewed gene: CSTF2: Rating: AMBER; Mode of pathogenicity: None; Publications: 32816001; Phenotypes: Intellectual disability, MONDO:0001071; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
04 May 2023	Intellectual disability - microarray and sequencing v5.98	HIST1H4E	Ronnie Wright reviewed gene: HIST1H4E: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
03 May 2023	Intellectual disability - microarray and sequencing v5.98	SRRM2	Alistair Pagnamenta reviewed gene: SRRM2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 35567594, 33057194; Phenotypes: Intellectual disability; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
03 May 2023	Intellectual disability - microarray and sequencing v5.98	PRKAR1B	Achchuthan Shanmugasundram Classified gene: PRKAR1B as Amber List (moderate evidence)
03 May 2023	Intellectual disability - microarray and sequencing v5.98	PRKAR1B	Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence for this gene to be promoted to GREEN rating at the next GMS update.
03 May 2023	Intellectual disability - microarray and sequencing v5.98	PRKAR1B	Achchuthan Shanmugasundram Gene: prkar1b has been classified as Amber List (Moderate Evidence).
03 May 2023	Intellectual disability - microarray and sequencing v5.98	PRKAR1B	Achchuthan Shanmugasundram Classified gene: PRKAR1B as Amber List (moderate evidence)
03 May 2023	Intellectual disability - microarray and sequencing v5.98	PRKAR1B	Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence for this gene to be promoted to GREEN rating at the next GMS update.
03 May 2023	Intellectual disability - microarray and sequencing v5.98	PRKAR1B	Achchuthan Shanmugasundram Gene: prkar1b has been classified as Amber List (Moderate Evidence).
03 May 2023	Intellectual disability - microarray and sequencing v5.98	PRKAR1B	Achchuthan Shanmugasundram Classified gene: PRKAR1B as Amber List (moderate evidence)
03 May 2023	Intellectual disability - microarray and sequencing v5.98	PRKAR1B	Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence for this gene to be promoted to GREEN rating at the next GMS update.
03 May 2023	Intellectual disability - microarray and sequencing v5.98	PRKAR1B	Achchuthan Shanmugasundram Gene: prkar1b has been classified as Amber List (Moderate Evidence).
03 May 2023	Intellectual disability - microarray and sequencing v5.97	PRKAR1B	Achchuthan Shanmugasundram Deleted their comment
03 May 2023	Intellectual disability - microarray and sequencing v5.97	PRKAR1B	Achchuthan Shanmugasundram Classified gene: PRKAR1B as Amber List (moderate evidence)
03 May 2023	Intellectual disability - microarray and sequencing v5.97	PRKAR1B	Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence for this gene to be promoted to GREEN rating at the next GMS update.
03 May 2023	Intellectual disability - microarray and sequencing v5.97	PRKAR1B	Achchuthan Shanmugasundram Gene: prkar1b has been classified as Amber List (Moderate Evidence).
03 May 2023	Intellectual disability - microarray and sequencing v5.97	PRKAR1B	Achchuthan Shanmugasundram Classified gene: PRKAR1B as Amber List (moderate evidence)
03 May 2023	Intellectual disability - microarray and sequencing v5.97	PRKAR1B	Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence for this gene to be promoted to GREEN rating at the next GMS update.
03 May 2023	Intellectual disability - microarray and sequencing v5.97	PRKAR1B	Achchuthan Shanmugasundram Gene: prkar1b has been classified as Amber List (Moderate Evidence).
03 May 2023	Intellectual disability - microarray and sequencing v5.96	PRKAR1B	Achchuthan Shanmugasundram Publications for gene: PRKAR1B were set to 25414040; 33833410
03 May 2023	Intellectual disability - microarray and sequencing v5.96	PRKAR1B	Achchuthan Shanmugasundram Phenotypes for gene: PRKAR1B were changed from Marbach-Schaaf neurodevelopmental syndrome, OMIM:619680 to Global developmental delay; Intellectual disability; Autism; Attention deficit hyperactivity disorder; Aggressive behavior; Abnormality of movement; Upslanted palpebral fissure
03 May 2023	Intellectual disability - microarray and sequencing v5.96	PRKAR1B	Achchuthan Shanmugasundram Publications for gene: PRKAR1B were set to 25414040; 33833410
03 May 2023	Intellectual disability - microarray and sequencing v5.96	PRKAR1B	Achchuthan Shanmugasundram Publications for gene: PRKAR1B were set to 25414040; 33833410
03 May 2023	Intellectual disability - microarray and sequencing v5.97	PRKAR1B	Achchuthan Shanmugasundram Tag Q2_23_promote_green tag was added to gene: PRKAR1B.
03 May 2023	Intellectual disability - microarray and sequencing v5.97	PRKAR1B	Achchuthan Shanmugasundram Phenotypes for gene: PRKAR1B were changed from Marbach-Schaaf neurodevelopmental syndrome, OMIM:619680 to Marbach-Schaaf neurodevelopmental syndrome, OMIM:619680
03 May 2023	Intellectual disability - microarray and sequencing v5.96	PRKAR1B	Achchuthan Shanmugasundram Phenotypes for gene: PRKAR1B were changed from Marbach-Schaaf neurodevelopmental syndrome, OMIM:619680 to Marbach-Schaaf neurodevelopmental syndrome, OMIM:619680
03 May 2023	Intellectual disability - microarray and sequencing v5.96	PRKAR1B	Achchuthan Shanmugasundram Phenotypes for gene: PRKAR1B were changed from Global developmental delay; Intellectual disability; Autism; Attention deficit hyperactivity disorder; Aggressive behavior; Abnormality of movement; Upslanted palpebral fissure to Marbach-Schaaf neurodevelopmental syndrome, OMIM:619680
03 May 2023	Intellectual disability - microarray and sequencing v5.95	PRKAR1B	Achchuthan Shanmugasundram Publications for gene: PRKAR1B were set to 25414040; 33833410
03 May 2023	Intellectual disability - microarray and sequencing v5.95	PRKAR1B	Achchuthan Shanmugasundram Publications for gene: PRKAR1B were set to 25414040; 33833410
03 May 2023	Intellectual disability - microarray and sequencing v5.96	PRKAR1B	Achchuthan Shanmugasundram Publications for gene: PRKAR1B were set to 25414040; 33833410
03 May 2023	Intellectual disability - microarray and sequencing v5.95	PRKAR1B	Achchuthan Shanmugasundram Publications for gene: PRKAR1B were set to 25414040; 33833410
03 May 2023	Intellectual disability - microarray and sequencing v5.95	PRKAR1B	Achchuthan Shanmugasundram Publications for gene: PRKAR1B were set to 25414040; 33833410
03 May 2023	Intellectual disability - microarray and sequencing v5.95	PRKAR1B	Achchuthan Shanmugasundram Publications for gene: PRKAR1B were set to https://doi.org/10.1101/2020.09.10.20190314; 25414040
03 May 2023	Intellectual disability - microarray and sequencing v5.94	PRKAR1B	Achchuthan Shanmugasundram Mode of inheritance for gene: PRKAR1B was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
03 May 2023	Intellectual disability - microarray and sequencing v5.94	PRKAR1B	Achchuthan Shanmugasundram Mode of inheritance for gene: PRKAR1B was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
03 May 2023	Intellectual disability - microarray and sequencing v5.94	PRKAR1B	Achchuthan Shanmugasundram Mode of inheritance for gene: PRKAR1B was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
03 May 2023	Intellectual disability - microarray and sequencing v5.94	PRKAR1B	Achchuthan Shanmugasundram Mode of inheritance for gene: PRKAR1B was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
03 May 2023	Intellectual disability - microarray and sequencing v5.94	PRKAR1B	Achchuthan Shanmugasundram Mode of inheritance for gene: PRKAR1B was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
03 May 2023	Intellectual disability - microarray and sequencing v5.93	PRKAR1B	Achchuthan Shanmugasundram reviewed gene: PRKAR1B: Rating: GREEN; Mode of pathogenicity: None; Publications: 33833410; Phenotypes: Marbach-Schaaf neurodevelopmental syndrome, OMIM:619680; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
03 May 2023	Intellectual disability - microarray and sequencing v5.93	PPFIBP1	Achchuthan Shanmugasundram changed review comment from: As reviewed by Konstantinos Varvagiannis, all individuals reported in PMID:35830857 (16 individuals from 12 families) shared a core phenotype of global developmental delay/intellectual disability (GDD/ID) and epilepsy. 15 were affected by profound or severe GDD/ID (15/16). They had not acquired speech (15/16) and showed impaired motor development (15/16). This gene has already been associated with relevant phenotypes in both OMIM (MIM #620024) and Gene2Phenotype (with 'strong' rating in the DD panel).; to: As reviewed by Konstantinos Varvagiannis, all individuals (16 individuals from 12 families) reported in PMID:35830857 shared a core phenotype of global developmental delay/intellectual disability (GDD/ID) and epilepsy. 15 were affected by profound or severe GDD/ID (15/16). They had not acquired speech (15/16) and showed impaired motor development (15/16). This gene has already been associated with relevant phenotypes in both OMIM (MIM #620024) and Gene2Phenotype (with 'strong' rating in the DD panel).
03 May 2023	Intellectual disability - microarray and sequencing v5.93	PPFIBP1	Achchuthan Shanmugasundram Deleted their comment
03 May 2023	Intellectual disability - microarray and sequencing v5.93	PPFIBP1	Achchuthan Shanmugasundram changed review comment from: As reviewed by Konstantinos Varvagiannis, all individuals reported in PMID:35830857 shared a core phenotype of global developmental delay/intellectual disability (GDD/ID) and epilepsy. 15 were affected by profound or severe GDD/ID (15/16). They had not acquired speech (15/16) and showed impaired motor development (15/16). This gene has already been associated with relevant phenotypes in both OMIM (MIM #620024) and Gene2Phenotype (with 'strong' rating in the DD panel).; to: As reviewed by Konstantinos Varvagiannis, all individuals reported in PMID:35830857 (16 individuals from 12 families) shared a core phenotype of global developmental delay/intellectual disability (GDD/ID) and epilepsy. 15 were affected by profound or severe GDD/ID (15/16). They had not acquired speech (15/16) and showed impaired motor development (15/16). This gene has already been associated with relevant phenotypes in both OMIM (MIM #620024) and Gene2Phenotype (with 'strong' rating in the DD panel).
03 May 2023	Intellectual disability - microarray and sequencing v5.93	PPFIBP1	Achchuthan Shanmugasundram Classified gene: PPFIBP1 as Amber List (moderate evidence)
03 May 2023	Intellectual disability - microarray and sequencing v5.93	PPFIBP1	Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence for this gene to be promoted to GREEN rating at the next GMS update.
03 May 2023	Intellectual disability - microarray and sequencing v5.93	PPFIBP1	Achchuthan Shanmugasundram Gene: ppfibp1 has been classified as Amber List (Moderate Evidence).
03 May 2023	Intellectual disability - microarray and sequencing v5.93	PPFIBP1	Achchuthan Shanmugasundram Deleted their comment
03 May 2023	Intellectual disability - microarray and sequencing v5.93	PPFIBP1	Achchuthan Shanmugasundram Classified gene: PPFIBP1 as Amber List (moderate evidence)
03 May 2023	Intellectual disability - microarray and sequencing v5.93	PPFIBP1	Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence for this gene to be promoted to GREEN rating at the next GMS update.
03 May 2023	Intellectual disability - microarray and sequencing v5.93	PPFIBP1	Achchuthan Shanmugasundram Gene: ppfibp1 has been classified as Amber List (Moderate Evidence).
03 May 2023	Intellectual disability - microarray and sequencing v5.93	PPFIBP1	Achchuthan Shanmugasundram Deleted their comment
03 May 2023	Intellectual disability - microarray and sequencing v5.93	PPFIBP1	Achchuthan Shanmugasundram Deleted their comment
03 May 2023	Intellectual disability - microarray and sequencing v5.93	PPFIBP1	Achchuthan Shanmugasundram Classified gene: PPFIBP1 as Amber List (moderate evidence)
03 May 2023	Intellectual disability - microarray and sequencing v5.93	PPFIBP1	Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence for this gene to be promoted to GREEN rating at the next GMS update.
03 May 2023	Intellectual disability - microarray and sequencing v5.93	PPFIBP1	Achchuthan Shanmugasundram Gene: ppfibp1 has been classified as Amber List (Moderate Evidence).
03 May 2023	Intellectual disability - microarray and sequencing v5.92	PPFIBP1	Achchuthan Shanmugasundram Classified gene: PPFIBP1 as Amber List (moderate evidence)
03 May 2023	Intellectual disability - microarray and sequencing v5.92	PPFIBP1	Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence for this gene to be promoted to GREEN rating at the next GMS update.
03 May 2023	Intellectual disability - microarray and sequencing v5.92	PPFIBP1	Achchuthan Shanmugasundram Gene: ppfibp1 has been classified as Amber List (Moderate Evidence).
03 May 2023	Intellectual disability - microarray and sequencing v5.92	PPFIBP1	Achchuthan Shanmugasundram Classified gene: PPFIBP1 as Amber List (moderate evidence)
03 May 2023	Intellectual disability - microarray and sequencing v5.92	PPFIBP1	Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence for this gene to be promoted to GREEN rating at the next GMS update.
03 May 2023	Intellectual disability - microarray and sequencing v5.92	PPFIBP1	Achchuthan Shanmugasundram Gene: ppfibp1 has been classified as Amber List (Moderate Evidence).
03 May 2023	Intellectual disability - microarray and sequencing v5.91	PPFIBP1	Achchuthan Shanmugasundram Phenotypes for gene: PPFIBP1 were changed from Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities, OMIM:620024 to Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities, OMIM:620024
03 May 2023	Intellectual disability - microarray and sequencing v5.92	PPFIBP1	Achchuthan Shanmugasundram Phenotypes for gene: PPFIBP1 were changed from Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities, OMIM:620024 to Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities, OMIM:620024
03 May 2023	Intellectual disability - microarray and sequencing v5.91	PPFIBP1	Achchuthan Shanmugasundram Phenotypes for gene: PPFIBP1 were changed from Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities, OMIM:620024 to Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities, OMIM:620024
03 May 2023	Intellectual disability - microarray and sequencing v5.91	PPFIBP1	Achchuthan Shanmugasundram Phenotypes for gene: PPFIBP1 were changed from Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities, OMIM:620024 to Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities, OMIM:620024
03 May 2023	Intellectual disability - microarray and sequencing v5.92	PPFIBP1	Achchuthan Shanmugasundram Phenotypes for gene: PPFIBP1 were changed from Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities, OMIM:620024 to Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities, OMIM:620024
03 May 2023	Intellectual disability - microarray and sequencing v5.91	PPFIBP1	Achchuthan Shanmugasundram Phenotypes for gene: PPFIBP1 were changed from Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities, OMIM:620024 to Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities, OMIM:620024
03 May 2023	Intellectual disability - microarray and sequencing v5.91	PPFIBP1	Achchuthan Shanmugasundram Phenotypes for gene: PPFIBP1 were changed from Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities, OMIM:620024 to Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities, OMIM:620024
03 May 2023	Intellectual disability - microarray and sequencing v5.92	PPFIBP1	Achchuthan Shanmugasundram Phenotypes for gene: PPFIBP1 were changed from Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities, OMIM:620024 to Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities, OMIM:620024
03 May 2023	Intellectual disability - microarray and sequencing v5.91	PPFIBP1	Achchuthan Shanmugasundram Phenotypes for gene: PPFIBP1 were changed from Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities, OMIM:620024 to Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities, OMIM:620024
03 May 2023	Intellectual disability - microarray and sequencing v5.91	PPFIBP1	Achchuthan Shanmugasundram Tag Q2_23_promote_green tag was added to gene: PPFIBP1.
03 May 2023	Intellectual disability - microarray and sequencing v5.91	PPFIBP1	Achchuthan Shanmugasundram Phenotypes for gene: PPFIBP1 were changed from Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities, OMIM:620024 to Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities, OMIM:620024
03 May 2023	Intellectual disability - microarray and sequencing v5.91	PPFIBP1	Achchuthan Shanmugasundram Phenotypes for gene: PPFIBP1 were changed from Global developmental delay; Intellectual disability; Microcephaly; Seizures; Abnormality of brain morphology; Abnormality of the cerebral white matter; Cerebral calcification; Abnormal cortical gyration; Hypertonia; Spastic tetraplegia; Generalized hypotonia; Small for gestational age; Growth delay; Failure to thrive; Feeding difficulties; abnormal heart morphology; Hearing abnormality; Cryptorchidism; Abnormality of vision to Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities, OMIM:620024
03 May 2023	Intellectual disability - microarray and sequencing v5.90	PPFIBP1	Achchuthan Shanmugasundram changed review comment from: As reviewed by Konstantinos Varvagiannis, all individuals reported in PMID:35830857 shared a core phenotype of global developmental delay/intellectual disability (GDD/ID) and epilepsy. 15 were affected by profound or severe GDD/ID (15/16). They had not acquired speech (15/16) and showed impaired motor development (15/16).; to: As reviewed by Konstantinos Varvagiannis, all individuals reported in PMID:35830857 shared a core phenotype of global developmental delay/intellectual disability (GDD/ID) and epilepsy. 15 were affected by profound or severe GDD/ID (15/16). They had not acquired speech (15/16) and showed impaired motor development (15/16). This gene has already been associated with relevant phenotypes in both OMIM (MIM #620024) and Gene2Phenotype (with 'strong' rating in the DD panel).
03 May 2023	Intellectual disability - microarray and sequencing v5.90	PPFIBP1	Achchuthan Shanmugasundram edited their review of gene: PPFIBP1: Changed phenotypes to: Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities, OMIM:620024
03 May 2023	Intellectual disability - microarray and sequencing v5.90	PPFIBP1	Achchuthan Shanmugasundram reviewed gene: PPFIBP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 35830857; Phenotypes: intellectual disability, MONDO:0001071; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
03 May 2023	Intellectual disability - microarray and sequencing v5.90	KDM2B	Achchuthan Shanmugasundram Classified gene: KDM2B as Amber List (moderate evidence)
03 May 2023	Intellectual disability - microarray and sequencing v5.90	KDM2B	Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence for this gene to be promoted to GREEN rating at the next GMS update.
03 May 2023	Intellectual disability - microarray and sequencing v5.90	KDM2B	Achchuthan Shanmugasundram Gene: kdm2b has been classified as Amber List (Moderate Evidence).
03 May 2023	Intellectual disability - microarray and sequencing v5.89	KDM2B	Achchuthan Shanmugasundram Classified gene: KDM2B as Amber List (moderate evidence)
03 May 2023	Intellectual disability - microarray and sequencing v5.89	KDM2B	Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence for this gene to be promoted to GREEN rating at the next GMS update.
03 May 2023	Intellectual disability - microarray and sequencing v5.89	KDM2B	Achchuthan Shanmugasundram Gene: kdm2b has been classified as Amber List (Moderate Evidence).
03 May 2023	Intellectual disability - microarray and sequencing v5.89	KDM2B	Achchuthan Shanmugasundram Classified gene: KDM2B as Amber List (moderate evidence)
03 May 2023	Intellectual disability - microarray and sequencing v5.89	KDM2B	Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence for this gene to be promoted to GREEN rating at the next GMS update.
03 May 2023	Intellectual disability - microarray and sequencing v5.89	KDM2B	Achchuthan Shanmugasundram Gene: kdm2b has been classified as Amber List (Moderate Evidence).
03 May 2023	Intellectual disability - microarray and sequencing v5.89	KDM2B	Achchuthan Shanmugasundram Classified gene: KDM2B as Amber List (moderate evidence)
03 May 2023	Intellectual disability - microarray and sequencing v5.89	KDM2B	Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence for this gene to be promoted to GREEN rating at the next GMS update.
03 May 2023	Intellectual disability - microarray and sequencing v5.89	KDM2B	Achchuthan Shanmugasundram Gene: kdm2b has been classified as Amber List (Moderate Evidence).
03 May 2023	Intellectual disability - microarray and sequencing v5.88	KDM2B	Achchuthan Shanmugasundram Phenotypes for gene: KDM2B were changed from neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071 to neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071
03 May 2023	Intellectual disability - microarray and sequencing v5.88	KDM2B	Achchuthan Shanmugasundram Phenotypes for gene: KDM2B were changed from neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071 to neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071
03 May 2023	Intellectual disability - microarray and sequencing v5.88	KDM2B	Achchuthan Shanmugasundram Phenotypes for gene: KDM2B were changed from neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071 to neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071
03 May 2023	Intellectual disability - microarray and sequencing v5.87	KDM2B	Achchuthan Shanmugasundram Phenotypes for gene: KDM2B were changed from neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071 to neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071
03 May 2023	Intellectual disability - microarray and sequencing v5.87	KDM2B	Achchuthan Shanmugasundram Tag Q2_23_promote_green tag was added to gene: KDM2B.
03 May 2023	Intellectual disability - microarray and sequencing v5.87	KDM2B	Achchuthan Shanmugasundram Phenotypes for gene: KDM2B were changed from neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071 to neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071
03 May 2023	Intellectual disability - microarray and sequencing v5.88	KDM2B	Achchuthan Shanmugasundram Phenotypes for gene: KDM2B were changed from neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071 to neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071
03 May 2023	Intellectual disability - microarray and sequencing v5.88	KDM2B	Achchuthan Shanmugasundram Phenotypes for gene: KDM2B were changed from neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071 to neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071
03 May 2023	Intellectual disability - microarray and sequencing v5.87	KDM2B	Achchuthan Shanmugasundram Phenotypes for gene: KDM2B were changed from neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071 to neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071
03 May 2023	Intellectual disability - microarray and sequencing v5.88	KDM2B	Achchuthan Shanmugasundram Phenotypes for gene: KDM2B were changed from neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071 to neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071
03 May 2023	Intellectual disability - microarray and sequencing v5.87	KDM2B	Achchuthan Shanmugasundram Phenotypes for gene: KDM2B were changed from neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071 to neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071
03 May 2023	Intellectual disability - microarray and sequencing v5.88	KDM2B	Achchuthan Shanmugasundram Phenotypes for gene: KDM2B were changed from neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071 to neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071
03 May 2023	Intellectual disability - microarray and sequencing v5.88	KDM2B	Achchuthan Shanmugasundram Phenotypes for gene: KDM2B were changed from neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071 to neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071
03 May 2023	Intellectual disability - microarray and sequencing v5.88	KDM2B	Achchuthan Shanmugasundram Phenotypes for gene: KDM2B were changed from neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071 to neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071
03 May 2023	Intellectual disability - microarray and sequencing v5.87	KDM2B	Achchuthan Shanmugasundram Phenotypes for gene: KDM2B were changed from neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071 to neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071
03 May 2023	Intellectual disability - microarray and sequencing v5.88	KDM2B	Achchuthan Shanmugasundram Phenotypes for gene: KDM2B were changed from neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071 to neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071
03 May 2023	Intellectual disability - microarray and sequencing v5.88	KDM2B	Achchuthan Shanmugasundram Phenotypes for gene: KDM2B were changed from neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071 to neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071
03 May 2023	Intellectual disability - microarray and sequencing v5.87	KDM2B	Achchuthan Shanmugasundram Phenotypes for gene: KDM2B were changed from to neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071
03 May 2023	Intellectual disability - microarray and sequencing v5.87	KDM2B	Achchuthan Shanmugasundram Publications for gene: KDM2B were set to 36322151
03 May 2023	Intellectual disability - microarray and sequencing v5.87	KDM2B	Achchuthan Shanmugasundram Publications for gene: KDM2B were set to PMID: 36322151; 35128353; 35710456
03 May 2023	Intellectual disability - microarray and sequencing v5.86	KDM2B	Achchuthan Shanmugasundram reviewed gene: KDM2B: Rating: GREEN; Mode of pathogenicity: None; Publications: 36322151; Phenotypes: neurodevelopmental disorder, MONDO:0700092, intellectual disability, MONDO:0001071; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
03 May 2023	Intellectual disability - microarray and sequencing v5.86	HNRNPD	Achchuthan Shanmugasundram Publications for gene: HNRNPD were set to 33057194; 33874999
03 May 2023	Intellectual disability - microarray and sequencing v5.87	HNRNPD	Achchuthan Shanmugasundram Publications for gene: HNRNPD were set to 33057194; 33874999
03 May 2023	Intellectual disability - microarray and sequencing v5.87	HNRNPD	Achchuthan Shanmugasundram Publications for gene: HNRNPD were set to 33057194; 33874999
03 May 2023	Intellectual disability - microarray and sequencing v5.87	HNRNPD	Achchuthan Shanmugasundram Publications for gene: HNRNPD were set to 33057194; 33874999
03 May 2023	Intellectual disability - microarray and sequencing v5.86	HNRNPD	Achchuthan Shanmugasundram Publications for gene: HNRNPD were set to 33057194; 33874999
03 May 2023	Intellectual disability - microarray and sequencing v5.86	HNRNPD	Achchuthan Shanmugasundram Publications for gene: HNRNPD were set to 33057194; 33874999
03 May 2023	Intellectual disability - microarray and sequencing v5.86	HNRNPD	Achchuthan Shanmugasundram Publications for gene: HNRNPD were set to 33057194; 33874999
03 May 2023	Intellectual disability - microarray and sequencing v5.86	HNRNPD	Achchuthan Shanmugasundram Publications for gene: HNRNPD were set to 33057194
03 May 2023	Intellectual disability - microarray and sequencing v5.85	HNRNPD	Achchuthan Shanmugasundram Tag watchlist tag was added to gene: HNRNPD.
03 May 2023	Intellectual disability - microarray and sequencing v5.85	HNRNPD	Achchuthan Shanmugasundram changed review comment from: As reviewed by Zornitza Stark (Australian Genomics), several additional individuals with neurodevelopmental disorders carrying de novo HNRNPD variants identified in an international cohort have been reported in PMID:33874999. These probands displayed a high prevalence of DD/ID, speech delay, and ASD and/or other behavioural phenotypes. As this is a large cohort study and there is no complete information about DD/ID phenotypes in these probands, this gene should remain as AMBER.; to: As reviewed by Zornitza Stark (Australian Genomics), several additional individuals with neurodevelopmental disorders carrying de novo HNRNPD variants identified in an international cohort have been reported in PMID:33874999. These probands displayed a high prevalence of DD/ID, speech delay, and ASD and/or other behavioural phenotypes. As this is a large cohort study and there is no complete information about DD/ID phenotypes in these probands, this gene should remain as AMBER. The 'watchlist' tag has been added to review this rating in light of new evidence in the future.
03 May 2023	Intellectual disability - microarray and sequencing v5.85	HNRNPD	Achchuthan Shanmugasundram reviewed gene: HNRNPD: Rating: AMBER; Mode of pathogenicity: None; Publications: 33874999; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
02 May 2023	Intellectual disability - microarray and sequencing v5.85	WIPI2	Achchuthan Shanmugasundram changed review comment from: Comment on list classification: As reviewed by Zornitza Stark (Australian Genomics), there are three unrelated families with homozygous variants in WIPI2 gene presenting with varying degrees of intellectual disability supported by functional evidence. Hence, this gene can be promoted to GREEN at the next major review.; to: Comment on list classification: As reviewed by Zornitza Stark (Australian Genomics), there are three unrelated families with homozygous variants in WIPI2 gene presenting with varying degrees of intellectual disability (moderate to profound) and supported by functional evidence. Hence, this gene can be promoted to GREEN at the next major review.
02 May 2023	Intellectual disability - microarray and sequencing v5.85	WIPI2	Achchuthan Shanmugasundram Publications for gene: WIPI2 were set to 30968111; 34557665
02 May 2023	Intellectual disability - microarray and sequencing v5.84	WIPI2	Achchuthan Shanmugasundram Publications for gene: WIPI2 were set to 30968111; 34557665
02 May 2023	Intellectual disability - microarray and sequencing v5.84	WIPI2	Achchuthan Shanmugasundram Publications for gene: WIPI2 were set to 30968111; 34557665
02 May 2023	Intellectual disability - microarray and sequencing v5.84	WIPI2	Achchuthan Shanmugasundram Tag Q2_23_promote_green tag was added to gene: WIPI2.
02 May 2023	Intellectual disability - microarray and sequencing v5.84	WIPI2	Achchuthan Shanmugasundram Publications for gene: WIPI2 were set to 30968111; 34557665
02 May 2023	Intellectual disability - microarray and sequencing v5.83	WIPI2	Achchuthan Shanmugasundram Publications for gene: WIPI2 were set to 30968111; 34557665
02 May 2023	Intellectual disability - microarray and sequencing v5.84	WIPI2	Achchuthan Shanmugasundram Publications for gene: WIPI2 were set to 30968111
02 May 2023	Intellectual disability - microarray and sequencing v5.83	WIPI2	Achchuthan Shanmugasundram Classified gene: WIPI2 as Amber List (moderate evidence)
02 May 2023	Intellectual disability - microarray and sequencing v5.83	WIPI2	Achchuthan Shanmugasundram Gene: wipi2 has been classified as Amber List (Moderate Evidence).
02 May 2023	Intellectual disability - microarray and sequencing v5.83	WIPI2	Achchuthan Shanmugasundram Classified gene: WIPI2 as Amber List (moderate evidence)
02 May 2023	Intellectual disability - microarray and sequencing v5.83	WIPI2	Achchuthan Shanmugasundram Gene: wipi2 has been classified as Amber List (Moderate Evidence).
02 May 2023	Intellectual disability - microarray and sequencing v5.83	WIPI2	Achchuthan Shanmugasundram Classified gene: WIPI2 as Amber List (moderate evidence)
02 May 2023	Intellectual disability - microarray and sequencing v5.83	WIPI2	Achchuthan Shanmugasundram Gene: wipi2 has been classified as Amber List (Moderate Evidence).
02 May 2023	Intellectual disability - microarray and sequencing v5.82	WIPI2	Achchuthan Shanmugasundram Classified gene: WIPI2 as Amber List (moderate evidence)
02 May 2023	Intellectual disability - microarray and sequencing v5.82	WIPI2	Achchuthan Shanmugasundram Gene: wipi2 has been classified as Amber List (Moderate Evidence).
02 May 2023	Intellectual disability - microarray and sequencing v5.81	WIPI2	Achchuthan Shanmugasundram Classified gene: WIPI2 as Red List (low evidence)
02 May 2023	Intellectual disability - microarray and sequencing v5.81	WIPI2	Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Zornitza Stark (Australian Genomics), there are three unrelated families with homozygous variants in WIPI2 gene presenting with varying degrees of intellectual disability supported by functional evidence. Hence, this gene can be promoted to GREEN at the next major review.
02 May 2023	Intellectual disability - microarray and sequencing v5.81	WIPI2	Achchuthan Shanmugasundram Gene: wipi2 has been classified as Red List (Low Evidence).
02 May 2023	Intellectual disability - microarray and sequencing v5.80	WIPI2	Achchuthan Shanmugasundram reviewed gene: WIPI2: Rating: GREEN; Mode of pathogenicity: None; Publications: 30968111, 34557665; Phenotypes: ?Intellectual developmental disorder with short stature and variable skeletal anomalies, OMIM:618453; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
02 May 2023	Intellectual disability - microarray and sequencing v5.80	PLXNA1	Achchuthan Shanmugasundram Tag Q2_23_promote_green tag was added to gene: PLXNA1.
02 May 2023	Intellectual disability - microarray and sequencing v5.80	PLXNA1	Achchuthan Shanmugasundram Deleted their comment
02 May 2023	Intellectual disability - microarray and sequencing v5.80	PLXNA1	Achchuthan Shanmugasundram Classified gene: PLXNA1 as Amber List (moderate evidence)
02 May 2023	Intellectual disability - microarray and sequencing v5.80	PLXNA1	Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available for this gene to be promoted to GREEN at the next major review. The MOI can also be set to 'BOTH monoallelic and biallelic, autosomal or pseudoautosomal" as there are more than three cases each with both monoallelic and biallelic variants.
02 May 2023	Intellectual disability - microarray and sequencing v5.80	PLXNA1	Achchuthan Shanmugasundram Gene: plxna1 has been classified as Amber List (Moderate Evidence).
02 May 2023	Intellectual disability - microarray and sequencing v5.79	PLXNA1	Achchuthan Shanmugasundram Classified gene: PLXNA1 as Amber List (moderate evidence)
02 May 2023	Intellectual disability - microarray and sequencing v5.79	PLXNA1	Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available for this gene to be promoted to GREEN at the next major review. The MOI can also be set to 'BOTH monoallelic and biallelic, autosomal or pseudoautosomal" as there are more than three cases each with both monoallelic and biallelic variants.
02 May 2023	Intellectual disability - microarray and sequencing v5.79	PLXNA1	Achchuthan Shanmugasundram Gene: plxna1 has been classified as Amber List (Moderate Evidence).
02 May 2023	Intellectual disability - microarray and sequencing v5.78	PLXNA1	Achchuthan Shanmugasundram Phenotypes for gene: PLXNA1 were changed from Dworschak-Punetha neurodevelopmental syndrome, OMIM:619955; developmental and epileptic encephalopathy, MONDO:0100062 to Dworschak-Punetha neurodevelopmental syndrome, OMIM:619955; developmental and epileptic encephalopathy, MONDO:0100062
02 May 2023	Intellectual disability - microarray and sequencing v5.78	PLXNA1	Achchuthan Shanmugasundram Phenotypes for gene: PLXNA1 were changed from Dworschak-Punetha neurodevelopmental syndrome, OMIM:619955; developmental and epileptic encephalopathy, MONDO:0100062 to Dworschak-Punetha neurodevelopmental syndrome, OMIM:619955; developmental and epileptic encephalopathy, MONDO:0100062
02 May 2023	Intellectual disability - microarray and sequencing v5.78	PLXNA1	Achchuthan Shanmugasundram Phenotypes for gene: PLXNA1 were changed from Dworschak-Punetha neurodevelopmental syndrome, OMIM:619955; developmental and epileptic encephalopathy, MONDO:0100062 to Dworschak-Punetha neurodevelopmental syndrome, OMIM:619955; developmental and epileptic encephalopathy, MONDO:0100062
02 May 2023	Intellectual disability - microarray and sequencing v5.78	PLXNA1	Achchuthan Shanmugasundram Phenotypes for gene: PLXNA1 were changed from Dworschak-Punetha neurodevelopmental syndrome, OMIM:619955; developmental and epileptic encephalopathy, MONDO:0100062 to Dworschak-Punetha neurodevelopmental syndrome, OMIM:619955; developmental and epileptic encephalopathy, MONDO:0100062
02 May 2023	Intellectual disability - microarray and sequencing v5.78	PLXNA1	Achchuthan Shanmugasundram Phenotypes for gene: PLXNA1 were changed from Neurodevelopmental disorder with cerebral and eye anomalies; Dworschak-Punetha neurodevelopmental syndrome, OMIM:619955; developmental and epileptic encephalopathy, MONDO:0100062 to Dworschak-Punetha neurodevelopmental syndrome, OMIM:619955; developmental and epileptic encephalopathy, MONDO:0100062
02 May 2023	Intellectual disability - microarray and sequencing v5.77	PLXNA1	Achchuthan Shanmugasundram Phenotypes for gene: PLXNA1 were changed from Neurodevelopmental disorder with cerebral and eye anomalies; Dworschak-Punetha neurodevelopmental syndrome, OMIM:619955; developmental and epileptic encephalopathy, MONDO:0100062 to Neurodevelopmental disorder with cerebral and eye anomalies; Dworschak-Punetha neurodevelopmental syndrome, OMIM:619955; developmental and epileptic encephalopathy, MONDO:0100062
02 May 2023	Intellectual disability - microarray and sequencing v5.77	PLXNA1	Achchuthan Shanmugasundram Phenotypes for gene: PLXNA1 were changed from Neurodevelopmental disorder with cerebral and eye anomalies; Dworschak-Punetha neurodevelopmental syndrome, OMIM:619955; developmental and epileptic encephalopathy, MONDO:0100062 to Neurodevelopmental disorder with cerebral and eye anomalies; Dworschak-Punetha neurodevelopmental syndrome, OMIM:619955; developmental and epileptic encephalopathy, MONDO:0100062
02 May 2023	Intellectual disability - microarray and sequencing v5.77	PLXNA1	Achchuthan Shanmugasundram Phenotypes for gene: PLXNA1 were changed from Neurodevelopmental disorder with cerebral and eye anomalies to Neurodevelopmental disorder with cerebral and eye anomalies; Dworschak-Punetha neurodevelopmental syndrome, OMIM:619955; developmental and epileptic encephalopathy, MONDO:0100062
02 May 2023	Intellectual disability - microarray and sequencing v5.76	PLXNA1	Achchuthan Shanmugasundram Publications for gene: PLXNA1 were set to 28464511; 34054129; 34415653
02 May 2023	Intellectual disability - microarray and sequencing v5.76	PLXNA1	Achchuthan Shanmugasundram Publications for gene: PLXNA1 were set to 34054129
02 May 2023	Intellectual disability - microarray and sequencing v5.75	PLXNA1	Achchuthan Shanmugasundram Deleted their review
02 May 2023	Intellectual disability - microarray and sequencing v5.75	PLXNA1	Achchuthan Shanmugasundram reviewed gene: PLXNA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28464511, 34054129, 34415653; Phenotypes: Dworschak-Punetha neurodevelopmental syndrome, OMIM:619955, developmental and epileptic encephalopathy, MONDO:0100062; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
02 May 2023	Intellectual disability - microarray and sequencing v5.75	PLXNA1	Achchuthan Shanmugasundram reviewed gene: PLXNA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28464511, 34054129, 34415653; Phenotypes: Dworschak-Punetha neurodevelopmental syndrome, OMIM:619955, developmental and epileptic encephalopathy, MONDO:0100062; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
02 May 2023	Intellectual disability - microarray and sequencing v5.75	KIF4A	Achchuthan Shanmugasundram Phenotypes for gene: KIF4A were changed from ?Intellectual developmental disorder, X-linked 100, OMIM:300923 to ?Intellectual developmental disorder, X-linked 100, OMIM:300923
02 May 2023	Intellectual disability - microarray and sequencing v5.75	KIF4A	Achchuthan Shanmugasundram Phenotypes for gene: KIF4A were changed from ?Intellectual developmental disorder, X-linked 100, OMIM:300923 to ?Intellectual developmental disorder, X-linked 100, OMIM:300923
02 May 2023	Intellectual disability - microarray and sequencing v5.75	KIF4A	Achchuthan Shanmugasundram Phenotypes for gene: KIF4A were changed from ?Intellectual developmental disorder, X-linked 100, OMIM:300923 to ?Intellectual developmental disorder, X-linked 100, OMIM:300923
02 May 2023	Intellectual disability - microarray and sequencing v5.75	KIF4A	Achchuthan Shanmugasundram Phenotypes for gene: KIF4A were changed from ?Intellectual developmental disorder, X-linked 100, OMIM:300923 to ?Intellectual developmental disorder, X-linked 100, OMIM:300923
02 May 2023	Intellectual disability - microarray and sequencing v5.74	KIF4A	Achchuthan Shanmugasundram Phenotypes for gene: KIF4A were changed from ?Intellectual developmental disorder, X-linked 100, OMIM:300923 to ?Intellectual developmental disorder, X-linked 100, OMIM:300923
02 May 2023	Intellectual disability - microarray and sequencing v5.75	KIF4A	Achchuthan Shanmugasundram Phenotypes for gene: KIF4A were changed from ?Intellectual developmental disorder, X-linked 100, OMIM:300923 to ?Intellectual developmental disorder, X-linked 100, OMIM:300923
02 May 2023	Intellectual disability - microarray and sequencing v5.75	KIF4A	Achchuthan Shanmugasundram Phenotypes for gene: KIF4A were changed from ?Intellectual developmental disorder, X-linked 100, OMIM:300923 to ?Intellectual developmental disorder, X-linked 100, OMIM:300923
02 May 2023	Intellectual disability - microarray and sequencing v5.74	KIF4A	Achchuthan Shanmugasundram Tag Q2_23_promote_green tag was added to gene: KIF4A.
02 May 2023	Intellectual disability - microarray and sequencing v5.74	KIF4A	Achchuthan Shanmugasundram Phenotypes for gene: KIF4A were changed from ?Intellectual developmental disorder, X-linked 100, OMIM:300923 to ?Intellectual developmental disorder, X-linked 100, OMIM:300923
02 May 2023	Intellectual disability - microarray and sequencing v5.75	KIF4A	Achchuthan Shanmugasundram Phenotypes for gene: KIF4A were changed from ?Intellectual developmental disorder, X-linked 100, OMIM:300923 to ?Intellectual developmental disorder, X-linked 100, OMIM:300923
02 May 2023	Intellectual disability - microarray and sequencing v5.75	KIF4A	Achchuthan Shanmugasundram Phenotypes for gene: KIF4A were changed from ?Intellectual developmental disorder, X-linked 100, OMIM:300923 to ?Intellectual developmental disorder, X-linked 100, OMIM:300923
02 May 2023	Intellectual disability - microarray and sequencing v5.75	KIF4A	Achchuthan Shanmugasundram Phenotypes for gene: KIF4A were changed from ?Intellectual developmental disorder, X-linked 100, OMIM:300923 to ?Intellectual developmental disorder, X-linked 100, OMIM:300923
02 May 2023	Intellectual disability - microarray and sequencing v5.74	KIF4A	Achchuthan Shanmugasundram Phenotypes for gene: KIF4A were changed from ?Intellectual developmental disorder, X-linked 100, OMIM:300923 to ?Intellectual developmental disorder, X-linked 100, OMIM:300923
02 May 2023	Intellectual disability - microarray and sequencing v5.75	KIF4A	Achchuthan Shanmugasundram Phenotypes for gene: KIF4A were changed from ?Intellectual developmental disorder, X-linked 100, OMIM:300923 to ?Intellectual developmental disorder, X-linked 100, OMIM:300923
02 May 2023	Intellectual disability - microarray and sequencing v5.74	KIF4A	Achchuthan Shanmugasundram Publications for gene: KIF4A were set to 24812067; 34346154
02 May 2023	Intellectual disability - microarray and sequencing v5.74	KIF4A	Achchuthan Shanmugasundram Phenotypes for gene: KIF4A were changed from ?Intellectual developmental disorder, X-linked 100, OMIM:300923 to ?Intellectual developmental disorder, X-linked 100, OMIM:300923
02 May 2023	Intellectual disability - microarray and sequencing v5.74	KIF4A	Achchuthan Shanmugasundram Phenotypes for gene: KIF4A were changed from ?Intellectual developmental disorder, X-linked 100, OMIM:300923 to ?Intellectual developmental disorder, X-linked 100, OMIM:300923
02 May 2023	Intellectual disability - microarray and sequencing v5.74	KIF4A	Achchuthan Shanmugasundram Phenotypes for gene: KIF4A were changed from INTELLECTUAL DISABILITY to ?Intellectual developmental disorder, X-linked 100, OMIM:300923
02 May 2023	Intellectual disability - microarray and sequencing v5.74	KIF4A	Achchuthan Shanmugasundram Publications for gene: KIF4A were set to 24812067; 34346154
02 May 2023	Intellectual disability - microarray and sequencing v5.73	KIF4A	Achchuthan Shanmugasundram Publications for gene: KIF4A were set to 24812067; 34346154
02 May 2023	Intellectual disability - microarray and sequencing v5.73	KIF4A	Achchuthan Shanmugasundram Publications for gene: KIF4A were set to 24812067
02 May 2023	Intellectual disability - microarray and sequencing v5.72	KIF4A	Achchuthan Shanmugasundram Classified gene: KIF4A as Amber List (moderate evidence)
02 May 2023	Intellectual disability - microarray and sequencing v5.72	KIF4A	Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Zornitza Stark (Australian Genomics), there are at least four unrelated cases with hemizygous variants in KIF4A gene and presenting with intellectual disability. This evidence is sufficient for promoting to GREEN rating at the next major review.
02 May 2023	Intellectual disability - microarray and sequencing v5.72	KIF4A	Achchuthan Shanmugasundram Gene: kif4a has been classified as Amber List (Moderate Evidence).
02 May 2023	Intellectual disability - microarray and sequencing v5.71	KIF4A	Achchuthan Shanmugasundram changed review comment from: As reviewed by Zornitza Stark (Australian Genomics), there are at least four unrelated cases with hemizygous variants in KIF4A gene and presenting with intellectual disability. PMID:24812067 reported a family in which five males spanning three generations had intellectual disability, speech delay and global developmental delay and four of these males developed seizures in late childhood–adolescence. PMID:34346154 reported 11 unrelated cases expanding the phenotypic spectrum to include developmental delay and intellectual disability with or without epilepsy to a congenital anomaly phenotype with hydrocephalus and various brain anomalies at the more severe end of clinical manifestations. Of eight patients with congenital anomalies, one each had severe to profound developmental delay, mild psychomotor delay and severe psychomotor delay, while the remaining five had no developmental delays. However, all three patients without congenital structural anomalies had intellectual disability (borderline intellectual functioning in one case), speech delay and global developmental delay, while motor delay and autism spectrum disorder was reported in two cases each. Isolated febrile seizure was reported in one case. This gene has been reported in OMIM (MIM #300923) and Gene2Phenotype (with 'limited' rating) on the basis of one family from PMID:24812067.; to: PMID:24812067 reported a family in which five males spanning three generations had intellectual disability, speech delay and global developmental delay and four of these males developed seizures in late childhood–adolescence. PMID:34346154 reported 11 unrelated cases expanding the phenotypic spectrum to include developmental delay and intellectual disability with or without epilepsy to a congenital anomaly phenotype with hydrocephalus and various brain anomalies at the more severe end of clinical manifestations. Of eight patients with congenital anomalies, one each had severe to profound developmental delay, mild psychomotor delay and severe psychomotor delay, while the remaining five had no developmental delays. However, all three patients without congenital structural anomalies had intellectual disability (borderline intellectual functioning in one case), speech delay and global developmental delay, while motor delay and autism spectrum disorder was reported in two cases each. Isolated febrile seizure was reported in one case. This gene has been reported in OMIM (MIM #300923) and Gene2Phenotype (with 'limited' rating) on the basis of one family from PMID:24812067.
02 May 2023	Intellectual disability - microarray and sequencing v5.71	KIF4A	Achchuthan Shanmugasundram changed review comment from: As reviewed by Zornitza Stark (Australian Genomics), there are at least four unrelated cases with hemizygous variants in KIF4A gene and presenting with intellectual disability. PMID:24812067 reported a family in which five males spanning three generations had intellectual disability, speech delay and global developmental delay and four of these males developed seizures in late childhood–adolescence. PMID:34346154 reported 11 unrelated cases expanding the phenotypic spectrum to include developmental delay and intellectual disability with or without epilepsy to a congenital anomaly phenotype with hydrocephalus and various brain anomalies at the more severe end of clinical manifestations. Of eight patients with congenital anomalies, one each had severe to profound developmental delay, mild psychomotor delay and severe psychomotor delay, while the remaining five had no developmental delays. However, all three patients without congenital structural anomalies had intellectual disability (borderline intellectual functioning in one case), speech delay and global developmental delay, while motor delay and autism spectrum disorder was reported in two cases each. Isolated febrile seizure was reported in one case.; to: As reviewed by Zornitza Stark (Australian Genomics), there are at least four unrelated cases with hemizygous variants in KIF4A gene and presenting with intellectual disability. PMID:24812067 reported a family in which five males spanning three generations had intellectual disability, speech delay and global developmental delay and four of these males developed seizures in late childhood–adolescence. PMID:34346154 reported 11 unrelated cases expanding the phenotypic spectrum to include developmental delay and intellectual disability with or without epilepsy to a congenital anomaly phenotype with hydrocephalus and various brain anomalies at the more severe end of clinical manifestations. Of eight patients with congenital anomalies, one each had severe to profound developmental delay, mild psychomotor delay and severe psychomotor delay, while the remaining five had no developmental delays. However, all three patients without congenital structural anomalies had intellectual disability (borderline intellectual functioning in one case), speech delay and global developmental delay, while motor delay and autism spectrum disorder was reported in two cases each. Isolated febrile seizure was reported in one case. This gene has been reported in OMIM (MIM #300923) and Gene2Phenotype (with 'limited' rating) on the basis of one family from PMID:24812067.
02 May 2023	Intellectual disability - microarray and sequencing v5.71	KIF4A	Achchuthan Shanmugasundram reviewed gene: KIF4A: Rating: GREEN; Mode of pathogenicity: None; Publications: 24812067, 34346154; Phenotypes: ?Intellectual developmental disorder, X-linked 100, OMIM:300923; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
01 May 2023	Intellectual disability - microarray and sequencing v5.71	DDX23	Achchuthan Shanmugasundram Tag Q2_23_promote_green tag was added to gene: DDX23.
01 May 2023	Intellectual disability - microarray and sequencing v5.71	DDX23	Achchuthan Shanmugasundram Classified gene: DDX23 as Amber List (moderate evidence)
01 May 2023	Intellectual disability - microarray and sequencing v5.71	DDX23	Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence for this gene to be promoted to GREEN at the next GMS review.
01 May 2023	Intellectual disability - microarray and sequencing v5.71	DDX23	Achchuthan Shanmugasundram Gene: ddx23 has been classified as Amber List (Moderate Evidence).
01 May 2023	Intellectual disability - microarray and sequencing v5.70	DDX23	Achchuthan Shanmugasundram reviewed gene: DDX23: Rating: GREEN; Mode of pathogenicity: None; Publications: 34050707; Phenotypes: global developmental delay with speech and behavioral abnormalities, MONDO:0030995; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
26 Apr 2023	Intellectual disability - microarray and sequencing v5.70	INTS11	Achchuthan Shanmugasundram Tag Q2_23_promote_green tag was added to gene: INTS11.
26 Apr 2023	Intellectual disability - microarray and sequencing v5.70	INTS11	Achchuthan Shanmugasundram changed review comment from: PMID:37054711 reported ten unrelated families with biallelic variants in INTS11 gene and they present with intellectual disability, global developmental and language delay, impaired motor development, and brain atrophy. Functional studies in Drosophila showed that dIntS11 (fly ortholog of INTS11) is essential and expressed in the central nervous systems in a subset of neurons and most glia in larval and adult stages. In addition, genes with two variants (p.Arg17Leu and p.His414Tyr) fail to rescue the lethality of null mutants in the Drosophila model, indicating that they are strong loss-of-function variants. The other five variants (p.Gly55Ser, p.Leu138Phe, p.Lys396Glu, p.Val517Met and p.Ile553Glu) rescue lethality but cause a shortened lifespan and bang sensitivity and affect locomotor activity, indicating that they are partial loss-of-function variants. Sources: Literature; to: PMID:37054711 reported ten unrelated families with biallelic variants in INTS11 gene and they present with intellectual disability, global developmental and language delay, impaired motor development, and brain atrophy. Functional studies in Drosophila showed that dIntS11 (fly ortholog of INTS11) is essential and expressed in the central nervous systems in a subset of neurons and most glia in larval and adult stages. In addition, genes with two variants (p.Arg17Leu and p.His414Tyr) fail to rescue the lethality of null mutants in the Drosophila model, indicating that they are strong loss-of-function variants. The other five variants (p.Gly55Ser, p.Leu138Phe, p.Lys396Glu, p.Val517Met and p.Ile553Glu) rescue lethality but cause a shortened lifespan and bang sensitivity and affect locomotor activity, indicating that they are partial loss-of-function variants. This gene has not yet been associated with relevant phenotypes in OMIM or in Gene2Phenotype. Sources: Literature
26 Apr 2023	Intellectual disability - microarray and sequencing v5.70	INTS11	Achchuthan Shanmugasundram Classified gene: INTS11 as Amber List (moderate evidence)
26 Apr 2023	Intellectual disability - microarray and sequencing v5.70	INTS11	Achchuthan Shanmugasundram Gene: ints11 has been classified as Amber List (Moderate Evidence).
26 Apr 2023	Intellectual disability - microarray and sequencing v5.69	INTS11	Achchuthan Shanmugasundram Classified gene: INTS11 as Amber List (moderate evidence)
26 Apr 2023	Intellectual disability - microarray and sequencing v5.69	INTS11	Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence (10 unrelated cases and supporting functional evidence) for this gene to be promoted to green at the next major review.
26 Apr 2023	Intellectual disability - microarray and sequencing v5.69	INTS11	Achchuthan Shanmugasundram Gene: ints11 has been classified as Amber List (Moderate Evidence).
26 Apr 2023	Intellectual disability - microarray and sequencing v5.68	INTS11	Achchuthan Shanmugasundram gene: INTS11 was added gene: INTS11 was added to Intellectual disability - microarray and sequencing. Sources: Literature Mode of inheritance for gene: INTS11 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: INTS11 were set to 37054711 Phenotypes for gene: INTS11 were set to intellectual disability, MONDO:0001071 Review for gene: INTS11 was set to GREEN Added comment: PMID:37054711 reported ten unrelated families with biallelic variants in INTS11 gene and they present with intellectual disability, global developmental and language delay, impaired motor development, and brain atrophy. Functional studies in Drosophila showed that dIntS11 (fly ortholog of INTS11) is essential and expressed in the central nervous systems in a subset of neurons and most glia in larval and adult stages. In addition, genes with two variants (p.Arg17Leu and p.His414Tyr) fail to rescue the lethality of null mutants in the Drosophila model, indicating that they are strong loss-of-function variants. The other five variants (p.Gly55Ser, p.Leu138Phe, p.Lys396Glu, p.Val517Met and p.Ile553Glu) rescue lethality but cause a shortened lifespan and bang sensitivity and affect locomotor activity, indicating that they are partial loss-of-function variants. Sources: Literature
21 Apr 2023	Intellectual disability - microarray and sequencing v5.67	PLK1	Achchuthan Shanmugasundram Deleted their comment
21 Apr 2023	Intellectual disability - microarray and sequencing v5.67	PLK1	Achchuthan Shanmugasundram Deleted their comment
21 Apr 2023	Intellectual disability - microarray and sequencing v5.67	PLK1	Achchuthan Shanmugasundram Deleted their comment
21 Apr 2023	Intellectual disability - microarray and sequencing v5.67	TAF2	Achchuthan Shanmugasundram Deleted their comment
21 Apr 2023	Intellectual disability - microarray and sequencing v5.67	TAF2	Achchuthan Shanmugasundram Deleted their comment
20 Apr 2023	Intellectual disability - microarray and sequencing v5.67	GRIA1	Achchuthan Shanmugasundram Deleted their comment
20 Apr 2023	Intellectual disability - microarray and sequencing v5.67	GRIA1	Achchuthan Shanmugasundram Deleted their comment
20 Apr 2023	Intellectual disability - microarray and sequencing v5.67	GRIA1	Achchuthan Shanmugasundram changed review comment from: Four different heterozygous variants in GRIA1 (p.Ala636Thr, p.Gly745Asp, p.Ile627Thr & p.Arg345Gln) have been identified in six unrelated individuals and they were all reported with intellectual disability, moderate to severe cognitive impairment, delayed motor development, speech impairment and behavioural issues such as anxiety, autism spectrum disorder and attention deficit hyperactivity disorder. Homozygous variant (p.Arg377Ter) has been identified in one individual, who presented with intellectual disability, severe cognitive impairment, delayed motor development, speech impairment (non-verbal) and self-injurious behaviour. In vitro functional studies with major GluA1-containing AMPAR subtypes carrying the GRIA1 variant mutations showed that three of the four missense variants profoundly perturb receptor function. The homozygous stop-gain variant completely destroyed the expression of GluA1-containing AMPARs. The Xenopus gria1 models also show transient motor deficits, an intermittent seizure phenotype, and a significant impairment to working memory in mutants.; to: Four different heterozygous variants in GRIA1 (p.Ala636Thr, p.Gly745Asp, p.Ile627Thr & p.Arg345Gln) have been identified in six unrelated individuals and they were all reported with intellectual disability, moderate to severe cognitive impairment, delayed motor development, speech impairment and behavioural issues such as anxiety, autism spectrum disorder and attention deficit hyperactivity disorder. Homozygous variant (p.Arg377Ter) has been identified in one individual, who presented with intellectual disability, severe cognitive impairment, delayed motor development, speech impairment (non-verbal) and self-injurious behaviour. In vitro functional studies with major GluA1-containing AMPAR subtypes carrying the GRIA1 variant mutations showed that three of the four missense variants profoundly perturb receptor function. The homozygous stop-gain variant completely destroyed the expression of GluA1-containing AMPARs. The Xenopus gria1 models also show transient motor deficits, an intermittent seizure phenotype, and a significant impairment to working memory in mutants. This gene has also been associated with relevant phenotypes in both OMIM (MIM #619927 & MIM #619931) and Gene2Phenotype (with 'moderate' rating).
20 Apr 2023	Intellectual disability - microarray and sequencing v5.67	GRIA1	Achchuthan Shanmugasundram Classified gene: GRIA1 as Amber List (moderate evidence)
20 Apr 2023	Intellectual disability - microarray and sequencing v5.67	GRIA1	Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence (6 unrelated cases with monoallelic inheritance and functional evidence including Xenopus models) for this gene to be promoted to GREEN at the next major review.
20 Apr 2023	Intellectual disability - microarray and sequencing v5.67	GRIA1	Achchuthan Shanmugasundram Gene: gria1 has been classified as Amber List (Moderate Evidence).
20 Apr 2023	Intellectual disability - microarray and sequencing v5.67	GRIA1	Achchuthan Shanmugasundram Classified gene: GRIA1 as Amber List (moderate evidence)
20 Apr 2023	Intellectual disability - microarray and sequencing v5.67	GRIA1	Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence (6 unrelated cases with monoallelic inheritance and functional evidence including Xenopus models) for this gene to be promoted to GREEN at the next major review.
20 Apr 2023	Intellectual disability - microarray and sequencing v5.67	GRIA1	Achchuthan Shanmugasundram Gene: gria1 has been classified as Amber List (Moderate Evidence).
20 Apr 2023	Intellectual disability - microarray and sequencing v5.66	GRIA1	Achchuthan Shanmugasundram Deleted their comment
20 Apr 2023	Intellectual disability - microarray and sequencing v5.66	GRIA1	Achchuthan Shanmugasundram Classified gene: GRIA1 as Amber List (moderate evidence)
20 Apr 2023	Intellectual disability - microarray and sequencing v5.66	GRIA1	Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence (6 unrelated cases with monoallelic inheritance and functional evidence including Xenopus models) for this gene to be promoted to GREEN at the next major review.
20 Apr 2023	Intellectual disability - microarray and sequencing v5.66	GRIA1	Achchuthan Shanmugasundram Gene: gria1 has been classified as Amber List (Moderate Evidence).
20 Apr 2023	Intellectual disability - microarray and sequencing v5.66	GRIA1	Achchuthan Shanmugasundram Classified gene: GRIA1 as Amber List (moderate evidence)
20 Apr 2023	Intellectual disability - microarray and sequencing v5.66	GRIA1	Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence (6 unrelated cases with monoallelic inheritance and functional evidence including Xenopus models) for this gene to be promoted to GREEN at the next major review.
20 Apr 2023	Intellectual disability - microarray and sequencing v5.66	GRIA1	Achchuthan Shanmugasundram Gene: gria1 has been classified as Amber List (Moderate Evidence).
20 Apr 2023	Intellectual disability - microarray and sequencing v5.65	GRIA1	Achchuthan Shanmugasundram Deleted their comment
20 Apr 2023	Intellectual disability - microarray and sequencing v5.65	GRIA1	Achchuthan Shanmugasundram Phenotypes for gene: GRIA1 were changed from Intellectual developmental disorder, autosomal dominant 67, OMIM:619927; ?Intellectual developmental disorder, autosomal recessive 76, OMIM:619931 to Intellectual developmental disorder, autosomal dominant 67, OMIM:619927; ?Intellectual developmental disorder, autosomal recessive 76, OMIM:619931
20 Apr 2023	Intellectual disability - microarray and sequencing v5.63	GRIA1	Achchuthan Shanmugasundram Deleted their comment
20 Apr 2023	Intellectual disability - microarray and sequencing v5.63	GRIA1	Achchuthan Shanmugasundram Deleted their comment
20 Apr 2023	Intellectual disability - microarray and sequencing v5.63	GRIA1	Achchuthan Shanmugasundram Phenotypes for gene: GRIA1 were changed from Intellectual developmental disorder, autosomal dominant 67, OMIM:619927; ?Intellectual developmental disorder, autosomal recessive 76, OMIM:619931 to Intellectual developmental disorder, autosomal dominant 67, OMIM:619927; ?Intellectual developmental disorder, autosomal recessive 76, OMIM:619931
20 Apr 2023	Intellectual disability - microarray and sequencing v5.65	GRIA1	Achchuthan Shanmugasundram Phenotypes for gene: GRIA1 were changed from Intellectual developmental disorder, autosomal dominant 67, OMIM:619927; ?Intellectual developmental disorder, autosomal recessive 76, OMIM:619931 to Intellectual developmental disorder, autosomal dominant 67, OMIM:619927; ?Intellectual developmental disorder, autosomal recessive 76, OMIM:619931
20 Apr 2023	Intellectual disability - microarray and sequencing v5.64	GRIA1	Achchuthan Shanmugasundram Phenotypes for gene: GRIA1 were changed from Intellectual developmental disorder, autosomal dominant 67, OMIM:619927; ?Intellectual developmental disorder, autosomal recessive 76, OMIM:619931 to Intellectual developmental disorder, autosomal dominant 67, OMIM:619927; ?Intellectual developmental disorder, autosomal recessive 76, OMIM:619931
20 Apr 2023	Intellectual disability - microarray and sequencing v5.65	GRIA1	Achchuthan Shanmugasundram Added comment: Comment on mode of inheritance: The MOI should be monoallelic, as there is only one case identified with biallelic inheritance.
20 Apr 2023	Intellectual disability - microarray and sequencing v5.65	GRIA1	Achchuthan Shanmugasundram Mode of inheritance for gene: GRIA1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
20 Apr 2023	Intellectual disability - microarray and sequencing v5.63	GRIA1	Achchuthan Shanmugasundram Added comment: Comment on mode of inheritance: The MOI should be monoallelic, as there is only one case identified with biallelic inheritance.
20 Apr 2023	Intellectual disability - microarray and sequencing v5.63	GRIA1	Achchuthan Shanmugasundram Mode of inheritance for gene: GRIA1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
20 Apr 2023	Intellectual disability - microarray and sequencing v5.64	GRIA1	Achchuthan Shanmugasundram Added comment: Comment on mode of inheritance: The MOI should be monoallelic, as there is only one case identified with biallelic inheritance.
20 Apr 2023	Intellectual disability - microarray and sequencing v5.64	GRIA1	Achchuthan Shanmugasundram Mode of inheritance for gene: GRIA1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
20 Apr 2023	Intellectual disability - microarray and sequencing v5.64	GRIA1	Achchuthan Shanmugasundram Tag watchlist was removed from gene: GRIA1. Tag Q2_23_promote_green tag was added to gene: GRIA1.
20 Apr 2023	Intellectual disability - microarray and sequencing v5.64	GRIA1	Achchuthan Shanmugasundram Phenotypes for gene: GRIA1 were changed from Intellectual developmental disorder, autosomal dominant 67, OMIM:619927; ?Intellectual developmental disorder, autosomal recessive 76, OMIM:619931 to Intellectual developmental disorder, autosomal dominant 67, OMIM:619927; ?Intellectual developmental disorder, autosomal recessive 76, OMIM:619931
20 Apr 2023	Intellectual disability - microarray and sequencing v5.63	GRIA1	Achchuthan Shanmugasundram Publications for gene: GRIA1 were set to 28628100; 23033978; 26350204; 24896178; 35675825
20 Apr 2023	Intellectual disability - microarray and sequencing v5.63	GRIA1	Achchuthan Shanmugasundram Added comment: Comment on mode of inheritance: The MOI should be monoallelic, as there is only one case identified with biallelic inheritance.
20 Apr 2023	Intellectual disability - microarray and sequencing v5.63	GRIA1	Achchuthan Shanmugasundram Mode of inheritance for gene: GRIA1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
20 Apr 2023	Intellectual disability - microarray and sequencing v5.64	GRIA1	Achchuthan Shanmugasundram Phenotypes for gene: GRIA1 were changed from Intellectual developmental disorder, autosomal dominant 67, OMIM:619927; ?Intellectual developmental disorder, autosomal recessive 76, OMIM:619931 to Intellectual developmental disorder, autosomal dominant 67, OMIM:619927; ?Intellectual developmental disorder, autosomal recessive 76, OMIM:619931
20 Apr 2023	Intellectual disability - microarray and sequencing v5.63	GRIA1	Achchuthan Shanmugasundram Phenotypes for gene: GRIA1 were changed from Intellectual developmental disorder, autosomal dominant 67, OMIM:619927; ?Intellectual developmental disorder, autosomal recessive 76, OMIM:619931 to Intellectual developmental disorder, autosomal dominant 67, OMIM:619927; ?Intellectual developmental disorder, autosomal recessive 76, OMIM:619931
20 Apr 2023	Intellectual disability - microarray and sequencing v5.63	GRIA1	Achchuthan Shanmugasundram Phenotypes for gene: GRIA1 were changed from Intellectual developmental disorder, autosomal dominant 67, OMIM:619927; ?Intellectual developmental disorder, autosomal recessive 76, OMIM:619931 to Intellectual developmental disorder, autosomal dominant 67, OMIM:619927; ?Intellectual developmental disorder, autosomal recessive 76, OMIM:619931
20 Apr 2023	Intellectual disability - microarray and sequencing v5.62	GRIA1	Achchuthan Shanmugasundram Publications for gene: GRIA1 were set to 28628100; 23033978; 26350204; 24896178; 35675825
20 Apr 2023	Intellectual disability - microarray and sequencing v5.63	GRIA1	Achchuthan Shanmugasundram Phenotypes for gene: GRIA1 were changed from Intellectual developmental disorder, autosomal dominant 67, OMIM:619927; ?Intellectual developmental disorder, autosomal recessive 76, OMIM:619931 to Intellectual developmental disorder, autosomal dominant 67, OMIM:619927; ?Intellectual developmental disorder, autosomal recessive 76, OMIM:619931
20 Apr 2023	Intellectual disability - microarray and sequencing v5.63	GRIA1	Achchuthan Shanmugasundram Phenotypes for gene: GRIA1 were changed from Intellectual developmental disorder, autosomal dominant 67, OMIM:619927; ?Intellectual developmental disorder, autosomal recessive 76, OMIM:619931 to Intellectual developmental disorder, autosomal dominant 67, OMIM:619927; ?Intellectual developmental disorder, autosomal recessive 76, OMIM:619931
20 Apr 2023	Intellectual disability - microarray and sequencing v5.63	GRIA1	Achchuthan Shanmugasundram Phenotypes for gene: GRIA1 were changed from Intellectual developmental disorder, autosomal dominant 67, OMIM:619927; ?Intellectual developmental disorder, autosomal recessive 76, OMIM:619931 to Intellectual developmental disorder, autosomal dominant 67, OMIM:619927; ?Intellectual developmental disorder, autosomal recessive 76, OMIM:619931
20 Apr 2023	Intellectual disability - microarray and sequencing v5.63	GRIA1	Achchuthan Shanmugasundram Phenotypes for gene: GRIA1 were changed from Intellectual developmental disorder, autosomal dominant 67, OMIM:619927; ?Intellectual developmental disorder, autosomal recessive 76, OMIM:619931 to Intellectual developmental disorder, autosomal dominant 67, OMIM:619927; ?Intellectual developmental disorder, autosomal recessive 76, OMIM:619931
20 Apr 2023	Intellectual disability - microarray and sequencing v5.63	GRIA1	Achchuthan Shanmugasundram Phenotypes for gene: GRIA1 were changed from Intellectual disability to Intellectual developmental disorder, autosomal dominant 67, OMIM:619927; ?Intellectual developmental disorder, autosomal recessive 76, OMIM:619931
20 Apr 2023	Intellectual disability - microarray and sequencing v5.62	GRIA1	Achchuthan Shanmugasundram Publications for gene: GRIA1 were set to 28628100; 23033978; 26350204; 24896178; 35675825
20 Apr 2023	Intellectual disability - microarray and sequencing v5.63	GRIA1	Achchuthan Shanmugasundram Publications for gene: GRIA1 were set to 28628100; 23033978; 26350204; 24896178; 35675825
20 Apr 2023	Intellectual disability - microarray and sequencing v5.62	GRIA1	Achchuthan Shanmugasundram Publications for gene: GRIA1 were set to 28628100; 23033978; 26350204; 24896178; 35675825
20 Apr 2023	Intellectual disability - microarray and sequencing v5.62	GRIA1	Achchuthan Shanmugasundram Publications for gene: GRIA1 were set to 28628100; 23033978; 26350204; 24896178; 35675825
20 Apr 2023	Intellectual disability - microarray and sequencing v5.62	GRIA1	Achchuthan Shanmugasundram Publications for gene: GRIA1 were set to 28628100; 23033978; 26350204; 24896178
20 Apr 2023	Intellectual disability - microarray and sequencing v5.61	GRIA1	Achchuthan Shanmugasundram reviewed gene: GRIA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 35675825; Phenotypes: Intellectual developmental disorder, autosomal dominant 67, OMIM:619927, ?Intellectual developmental disorder, autosomal recessive 76, OMIM:619931; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
18 Apr 2023	Intellectual disability - microarray and sequencing v5.61	C2orf69	Arina Puzriakova Entity copied from Mitochondrial disorders v4.27
18 Apr 2023	Intellectual disability - microarray and sequencing v5.61	C2orf69	Arina Puzriakova gene: C2orf69 was added gene: C2orf69 was added to Intellectual disability - microarray and sequencing. Sources: Expert Review Amber,Literature Q2_23_promote_green tags were added to gene: C2orf69. Mode of inheritance for gene: C2orf69 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: C2orf69 were set to 34038740; 33945503 Phenotypes for gene: C2orf69 were set to Combined oxidative phosphorylation deficiency 53, OMIM:619423
17 Apr 2023	Intellectual disability - microarray and sequencing v5.60	TAF2	Achchuthan Shanmugasundram Classified gene: TAF2 as Amber List (moderate evidence)
17 Apr 2023	Intellectual disability - microarray and sequencing v5.60	TAF2	Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence (at least 4 unrelated cases) for this gene to be promoted to GREEN at the next major review.
17 Apr 2023	Intellectual disability - microarray and sequencing v5.60	TAF2	Achchuthan Shanmugasundram Gene: taf2 has been classified as Amber List (Moderate Evidence).
17 Apr 2023	Intellectual disability - microarray and sequencing v5.60	TAF2	Achchuthan Shanmugasundram Classified gene: TAF2 as Amber List (moderate evidence)
17 Apr 2023	Intellectual disability - microarray and sequencing v5.60	TAF2	Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence (at least 4 unrelated cases) for this gene to be promoted to GREEN at the next major review.
17 Apr 2023	Intellectual disability - microarray and sequencing v5.60	TAF2	Achchuthan Shanmugasundram Gene: taf2 has been classified as Amber List (Moderate Evidence).
17 Apr 2023	Intellectual disability - microarray and sequencing v5.59	TAF2	Achchuthan Shanmugasundram Publications for gene: TAF2 were set to 21937992; 22633631; 24084144; 26350204; 34474177
17 Apr 2023	Intellectual disability - microarray and sequencing v5.59	TAF2	Achchuthan Shanmugasundram Publications for gene: TAF2 were set to 21937992; 22633631; 24084144; 26350204; 34474177
17 Apr 2023	Intellectual disability - microarray and sequencing v5.58	TAF2	Achchuthan Shanmugasundram Deleted their comment
17 Apr 2023	Intellectual disability - microarray and sequencing v5.58	TAF2	Achchuthan Shanmugasundram Tag Q2_23_promote_green tag was added to gene: TAF2.
17 Apr 2023	Intellectual disability - microarray and sequencing v5.58	TAF2	Achchuthan Shanmugasundram Publications for gene: TAF2 were set to 21937992; 22633631; 24084144; 26350204; 34474177
17 Apr 2023	Intellectual disability - microarray and sequencing v5.60	TAF2	Achchuthan Shanmugasundram Classified gene: TAF2 as Amber List (moderate evidence)
17 Apr 2023	Intellectual disability - microarray and sequencing v5.60	TAF2	Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence (at least 4 unrelated cases) for this gene to be promoted to GREEN at the next major review.
17 Apr 2023	Intellectual disability - microarray and sequencing v5.60	TAF2	Achchuthan Shanmugasundram Gene: taf2 has been classified as Amber List (Moderate Evidence).
17 Apr 2023	Intellectual disability - microarray and sequencing v5.60	TAF2	Achchuthan Shanmugasundram Deleted their comment
17 Apr 2023	Intellectual disability - microarray and sequencing v5.60	TAF2	Achchuthan Shanmugasundram Deleted their comment
17 Apr 2023	Intellectual disability - microarray and sequencing v5.60	TAF2	Achchuthan Shanmugasundram Classified gene: TAF2 as Amber List (moderate evidence)
17 Apr 2023	Intellectual disability - microarray and sequencing v5.60	TAF2	Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence (at least 4 unrelated cases) for this gene to be promoted to GREEN at the next major review.
17 Apr 2023	Intellectual disability - microarray and sequencing v5.60	TAF2	Achchuthan Shanmugasundram Gene: taf2 has been classified as Amber List (Moderate Evidence).
17 Apr 2023	Intellectual disability - microarray and sequencing v5.60	TAF2	Achchuthan Shanmugasundram Classified gene: TAF2 as Amber List (moderate evidence)
17 Apr 2023	Intellectual disability - microarray and sequencing v5.60	TAF2	Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence (at least 4 unrelated cases) for this gene to be promoted to GREEN at the next major review.
17 Apr 2023	Intellectual disability - microarray and sequencing v5.60	TAF2	Achchuthan Shanmugasundram Gene: taf2 has been classified as Amber List (Moderate Evidence).
17 Apr 2023	Intellectual disability - microarray and sequencing v5.59	TAF2	Achchuthan Shanmugasundram Deleted their comment
17 Apr 2023	Intellectual disability - microarray and sequencing v5.59	TAF2	Achchuthan Shanmugasundram Classified gene: TAF2 as Amber List (moderate evidence)
17 Apr 2023	Intellectual disability - microarray and sequencing v5.59	TAF2	Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence (at least 4 unrelated cases) for this gene to be promoted to GREEN at the next major review.
17 Apr 2023	Intellectual disability - microarray and sequencing v5.59	TAF2	Achchuthan Shanmugasundram Gene: taf2 has been classified as Amber List (Moderate Evidence).
17 Apr 2023	Intellectual disability - microarray and sequencing v5.59	TAF2	Achchuthan Shanmugasundram Classified gene: TAF2 as Amber List (moderate evidence)
17 Apr 2023	Intellectual disability - microarray and sequencing v5.59	TAF2	Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence (at least 4 unrelated cases) for this gene to be promoted to GREEN at the next major review.
17 Apr 2023	Intellectual disability - microarray and sequencing v5.59	TAF2	Achchuthan Shanmugasundram Gene: taf2 has been classified as Amber List (Moderate Evidence).
17 Apr 2023	Intellectual disability - microarray and sequencing v5.59	TAF2	Achchuthan Shanmugasundram Publications for gene: TAF2 were set to 21937992; 22633631; 24084144; 26350204; 34474177
17 Apr 2023	Intellectual disability - microarray and sequencing v5.59	TAF2	Achchuthan Shanmugasundram Publications for gene: TAF2 were set to 21937992; 22633631; 24084144; 26350204; 34474177
17 Apr 2023	Intellectual disability - microarray and sequencing v5.58	TAF2	Achchuthan Shanmugasundram Publications for gene: TAF2 were set to 21937992; 22633631; 24084144; 26350204; 34474177
17 Apr 2023	Intellectual disability - microarray and sequencing v5.58	TAF2	Achchuthan Shanmugasundram Publications for gene: TAF2 were set to 21937992; 22633631; 24084144; 26350204; 34474177
17 Apr 2023	Intellectual disability - microarray and sequencing v5.58	TAF2	Achchuthan Shanmugasundram Publications for gene: TAF2 were set to 21937992; 22633631; 24084144; 26350204; 34474177
17 Apr 2023	Intellectual disability - microarray and sequencing v5.58	TAF2	Achchuthan Shanmugasundram Publications for gene: TAF2 were set to 21937992; 24084144; 26350204
17 Apr 2023	Intellectual disability - microarray and sequencing v5.57	TAF2	Achchuthan Shanmugasundram reviewed gene: TAF2: Rating: GREEN; Mode of pathogenicity: None; Publications: 21937992, 24084144, 34474177; Phenotypes: Mental retardation, autosomal recessive 40, OMIM:615599; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
17 Apr 2023	Intellectual disability - microarray and sequencing v5.57	SHANK1	Achchuthan Shanmugasundram Deleted their comment
17 Apr 2023	Intellectual disability - microarray and sequencing v5.57	SHANK1	Achchuthan Shanmugasundram Tag Q2_23_promote_green tag was added to gene: SHANK1.
17 Apr 2023	Intellectual disability - microarray and sequencing v5.57	SHANK1	Achchuthan Shanmugasundram Classified gene: SHANK1 as Amber List (moderate evidence)
17 Apr 2023	Intellectual disability - microarray and sequencing v5.57	SHANK1	Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence (at least four unrelated cases) for this gene to be promoted to GREEN at the next major review.
17 Apr 2023	Intellectual disability - microarray and sequencing v5.57	SHANK1	Achchuthan Shanmugasundram Gene: shank1 has been classified as Amber List (Moderate Evidence).
17 Apr 2023	Intellectual disability - microarray and sequencing v5.57	SHANK1	Achchuthan Shanmugasundram Deleted their comment
17 Apr 2023	Intellectual disability - microarray and sequencing v5.57	SHANK1	Achchuthan Shanmugasundram Classified gene: SHANK1 as Amber List (moderate evidence)
17 Apr 2023	Intellectual disability - microarray and sequencing v5.57	SHANK1	Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence (at least four unrelated cases) for this gene to be promoted to GREEN at the next major review.
17 Apr 2023	Intellectual disability - microarray and sequencing v5.57	SHANK1	Achchuthan Shanmugasundram Gene: shank1 has been classified as Amber List (Moderate Evidence).
17 Apr 2023	Intellectual disability - microarray and sequencing v5.56	SHANK1	Achchuthan Shanmugasundram Deleted their comment
17 Apr 2023	Intellectual disability - microarray and sequencing v5.56	SHANK1	Achchuthan Shanmugasundram Classified gene: SHANK1 as Amber List (moderate evidence)
17 Apr 2023	Intellectual disability - microarray and sequencing v5.56	SHANK1	Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence (at least four unrelated cases) for this gene to be promoted to GREEN at the next major review.
17 Apr 2023	Intellectual disability - microarray and sequencing v5.56	SHANK1	Achchuthan Shanmugasundram Gene: shank1 has been classified as Amber List (Moderate Evidence).
17 Apr 2023	Intellectual disability - microarray and sequencing v5.56	SHANK1	Achchuthan Shanmugasundram Classified gene: SHANK1 as Amber List (moderate evidence)
17 Apr 2023	Intellectual disability - microarray and sequencing v5.56	SHANK1	Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence (at least four unrelated cases) for this gene to be promoted to GREEN at the next major review.
17 Apr 2023	Intellectual disability - microarray and sequencing v5.56	SHANK1	Achchuthan Shanmugasundram Gene: shank1 has been classified as Amber List (Moderate Evidence).
17 Apr 2023	Intellectual disability - microarray and sequencing v5.55	SHANK1	Achchuthan Shanmugasundram Phenotypes for gene: SHANK1 were changed from neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071 to neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071
17 Apr 2023	Intellectual disability - microarray and sequencing v5.55	SHANK1	Achchuthan Shanmugasundram Phenotypes for gene: SHANK1 were changed from neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071 to neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071
17 Apr 2023	Intellectual disability - microarray and sequencing v5.55	SHANK1	Achchuthan Shanmugasundram Phenotypes for gene: SHANK1 were changed from neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071 to neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071
17 Apr 2023	Intellectual disability - microarray and sequencing v5.55	SHANK1	Achchuthan Shanmugasundram Phenotypes for gene: SHANK1 were changed from AUTISM to neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071
17 Apr 2023	Intellectual disability - microarray and sequencing v5.54	SHANK1	Achchuthan Shanmugasundram changed review comment from: As reviewed by Zornitza Stark (Australian Genomics), PMID:34113010 reported six individuals who presented with neurodevelopmental disorders and identified with de novo truncating variants in SHANK1 gene. Of these six individuals, four had intellectual disability, one had severe learning difficulties and one with auditory processing disorder, difficulty with executive functioning, mathematic concepts, verbal reasoning and problem solving.; to: As reviewed by Zornitza Stark (Australian Genomics), PMID:34113010 reported six unrelated individuals who presented with neurodevelopmental disorders and identified with de novo truncating variants in SHANK1 gene. Of these six individuals, four had intellectual disability, one had severe learning difficulties and one with auditory processing disorder, difficulty with executive functioning, mathematic concepts, verbal reasoning and problem solving. Three of these patients were also reported with autism spectrum disorder. This gene has been associated with relevant phenotypes in Gene2Phenotype (with 'strong' rating in the DD panel).
17 Apr 2023	Intellectual disability - microarray and sequencing v5.54	SHANK1	Achchuthan Shanmugasundram Publications for gene: SHANK1 were set to 0
17 Apr 2023	Intellectual disability - microarray and sequencing v5.53	SHANK1	Achchuthan Shanmugasundram edited their review of gene: SHANK1: Changed phenotypes to: neurodevelopmental disorder, MONDO:0700092, intellectual disability, MONDO:0001071
17 Apr 2023	Intellectual disability - microarray and sequencing v5.53	SHANK1	Achchuthan Shanmugasundram edited their review of gene: SHANK1: Added comment: As reviewed by Zornitza Stark (Australian Genomics), PMID:34113010 reported six individuals who presented with neurodevelopmental disorders and identified with de novo truncating variants in SHANK1 gene. Of these six individuals, four had intellectual disability, one had severe learning difficulties and one with auditory processing disorder, difficulty with executive functioning, mathematic concepts, verbal reasoning and problem solving.; Changed phenotypes to: nearodevelopmental disorder, MONDO:0700092, intellectual disability, MONDO:0001071
17 Apr 2023	Intellectual disability - microarray and sequencing v5.53	SHANK1	Achchuthan Shanmugasundram reviewed gene: SHANK1: Rating: GREEN; Mode of pathogenicity: None; Publications: 34113010; Phenotypes: neurocde; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
17 Apr 2023	Intellectual disability - microarray and sequencing v5.53	PLK1	Achchuthan Shanmugasundram Classified gene: PLK1 as Amber List (moderate evidence)
17 Apr 2023	Intellectual disability - microarray and sequencing v5.53	PLK1	Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Dmitrijs Rots (RadboudUMC), there is sufficient evidence for this gene to be promoted to GREEN at the next major review.
17 Apr 2023	Intellectual disability - microarray and sequencing v5.53	PLK1	Achchuthan Shanmugasundram Gene: plk1 has been classified as Amber List (Moderate Evidence).
17 Apr 2023	Intellectual disability - microarray and sequencing v5.53	PLK1	Achchuthan Shanmugasundram Classified gene: PLK1 as Amber List (moderate evidence)
17 Apr 2023	Intellectual disability - microarray and sequencing v5.53	PLK1	Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Dmitrijs Rots (RadboudUMC), there is sufficient evidence for this gene to be promoted to GREEN at the next major review.
17 Apr 2023	Intellectual disability - microarray and sequencing v5.53	PLK1	Achchuthan Shanmugasundram Gene: plk1 has been classified as Amber List (Moderate Evidence).
17 Apr 2023	Intellectual disability - microarray and sequencing v5.53	PLK1	Achchuthan Shanmugasundram Classified gene: PLK1 as Amber List (moderate evidence)
17 Apr 2023	Intellectual disability - microarray and sequencing v5.53	PLK1	Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Dmitrijs Rots (RadboudUMC), there is sufficient evidence for this gene to be promoted to GREEN at the next major review.
17 Apr 2023	Intellectual disability - microarray and sequencing v5.53	PLK1	Achchuthan Shanmugasundram Gene: plk1 has been classified as Amber List (Moderate Evidence).
17 Apr 2023	Intellectual disability - microarray and sequencing v5.53	PLK1	Achchuthan Shanmugasundram Classified gene: PLK1 as Amber List (moderate evidence)
17 Apr 2023	Intellectual disability - microarray and sequencing v5.53	PLK1	Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Dmitrijs Rots (RadboudUMC), there is sufficient evidence for this gene to be promoted to GREEN at the next major review.
17 Apr 2023	Intellectual disability - microarray and sequencing v5.53	PLK1	Achchuthan Shanmugasundram Gene: plk1 has been classified as Amber List (Moderate Evidence).
17 Apr 2023	Intellectual disability - microarray and sequencing v5.52	PLK1	Achchuthan Shanmugasundram Publications for gene: PLK1 were set to 33875846
17 Apr 2023	Intellectual disability - microarray and sequencing v5.52	PLK1	Achchuthan Shanmugasundram Publications for gene: PLK1 were set to 33875846
17 Apr 2023	Intellectual disability - microarray and sequencing v5.52	PLK1	Achchuthan Shanmugasundram Publications for gene: PLK1 were set to 33875846
17 Apr 2023	Intellectual disability - microarray and sequencing v5.51	PLK1	Achchuthan Shanmugasundram Publications for gene: PLK1 were set to 33875846
17 Apr 2023	Intellectual disability - microarray and sequencing v5.51	PLK1	Achchuthan Shanmugasundram Publications for gene: PLK1 were set to PMID: 33875846
17 Apr 2023	Intellectual disability - microarray and sequencing v5.50	PLK1	Achchuthan Shanmugasundram Tag Q2_23_promote_green tag was added to gene: PLK1.
17 Apr 2023	Intellectual disability - microarray and sequencing v5.50	PLK1	Achchuthan Shanmugasundram reviewed gene: PLK1: Rating: GREEN; Mode of pathogenicity: None; Publications: 33875846; Phenotypes: intellectual disability, MONDO:0001071; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
17 Apr 2023	Intellectual disability - microarray and sequencing v5.50	OTUD7A	Achchuthan Shanmugasundram changed review comment from: PMID:31997314 reported a patient presenting with severe global developmental delay, language impairment and epileptic encephalopathy and was identified with homozygous variant in OTUD7A gene (c.697C>T)/ p.Leu233Phe). PMID:33381903 reported a patient with profound hypotonia, severe intellectual disability, and seizures and identified with biallelic loss-of-function variants in OTUD7A: a 15q13.3 deletion including the OTUD7A locus, and a frameshift OTUD7A variant c.1125del/ p.Glu375Aspfs11. PMID:36180924 reported a patient (patient #4) presenting with severe neurodevelopmental diseases and dysmorphic features and identified with hemizygous OTUD7A frameshift variant allele c.2023_2066del/ p.D675Hfs188 in trans with the recurrent 15q13.3 BP4-BP5 deletion. OTUD7A knockout mice exhibited reduced body weight, developmental delay, abnormal electroencephalography patterns and seizures, reduced ultrasonic vocalisations, decreased grip strength, impaired motor learning/motor coordination, and reduced acoustic startle (PMID:29395075). The function evidence also suggest that OTUD7A may be the critical “driver gene” in the 15q13.3 deletion syndrome.; to: PMID:31997314 reported a patient presenting with severe global developmental delay, language impairment and epileptic encephalopathy and was identified with homozygous variant in OTUD7A gene (c.697C>T)/ p.Leu233Phe). PMID:33381903 reported a patient with profound hypotonia, severe intellectual disability, and seizures and identified with biallelic loss-of-function variants in OTUD7A: a 15q13.3 deletion including the OTUD7A locus, and a frameshift OTUD7A variant c.1125del/ p.Glu375Aspfs11. PMID:36180924 reported a patient (patient #4) presenting with severe neurodevelopmental diseases and dysmorphic features and identified with hemizygous OTUD7A frameshift variant allele c.2023_2066del/ p.D675Hfs188 in trans with the recurrent 15q13.3 BP4-BP5 deletion. OTUD7A knockout mice exhibited reduced body weight, developmental delay, abnormal electroencephalography patterns and seizures, reduced ultrasonic vocalisations, decreased grip strength, impaired motor learning/motor coordination, and reduced acoustic startle (PMID:29395075). The function evidence also suggest that OTUD7A may be the critical “driver gene” in the 15q13.3 deletion syndrome. This gene has been reported in the DD panel of Gene2Phenotype (with 'limited' rating), but has not yet been associated with phenotypes in OMIM.
17 Apr 2023	Intellectual disability - microarray and sequencing v5.50	OTUD7A	Achchuthan Shanmugasundram Deleted their comment
17 Apr 2023	Intellectual disability - microarray and sequencing v5.50	OTUD7A	Achchuthan Shanmugasundram Deleted their comment
17 Apr 2023	Intellectual disability - microarray and sequencing v5.50	OTUD7A	Achchuthan Shanmugasundram Deleted their comment
17 Apr 2023	Intellectual disability - microarray and sequencing v5.50	OTUD7A	Achchuthan Shanmugasundram Deleted their comment
17 Apr 2023	Intellectual disability - microarray and sequencing v5.50	OTUD7A	Achchuthan Shanmugasundram Deleted their comment
17 Apr 2023	Intellectual disability - microarray and sequencing v5.50	OTUD7A	Achchuthan Shanmugasundram Deleted their comment
17 Apr 2023	Intellectual disability - microarray and sequencing v5.50	OTUD7A	Achchuthan Shanmugasundram Deleted their comment
17 Apr 2023	Intellectual disability - microarray and sequencing v5.50	OTUD7A	Achchuthan Shanmugasundram Deleted their comment
17 Apr 2023	Intellectual disability - microarray and sequencing v5.50	OTUD7A	Achchuthan Shanmugasundram Deleted their comment
17 Apr 2023	Intellectual disability - microarray and sequencing v5.50	OTUD7A	Achchuthan Shanmugasundram Classified gene: OTUD7A as Amber List (moderate evidence)
17 Apr 2023	Intellectual disability - microarray and sequencing v5.50	OTUD7A	Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence (three unrelated cases with biallelic variants and supportive functional evidence from mouse models) for this gene to be promoted to green at the next major review.
17 Apr 2023	Intellectual disability - microarray and sequencing v5.50	OTUD7A	Achchuthan Shanmugasundram Gene: otud7a has been classified as Amber List (Moderate Evidence).
17 Apr 2023	Intellectual disability - microarray and sequencing v5.51	OTUD7A	Achchuthan Shanmugasundram Classified gene: OTUD7A as Amber List (moderate evidence)
17 Apr 2023	Intellectual disability - microarray and sequencing v5.51	OTUD7A	Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence (three unrelated cases with biallelic variants and supportive functional evidence from mouse models) for this gene to be promoted to green at the next major review.
17 Apr 2023	Intellectual disability - microarray and sequencing v5.51	OTUD7A	Achchuthan Shanmugasundram Gene: otud7a has been classified as Amber List (Moderate Evidence).
17 Apr 2023	Intellectual disability - microarray and sequencing v5.50	OTUD7A	Achchuthan Shanmugasundram Classified gene: OTUD7A as Amber List (moderate evidence)
17 Apr 2023	Intellectual disability - microarray and sequencing v5.50	OTUD7A	Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence (three unrelated cases with biallelic variants and supportive functional evidence from mouse models) for this gene to be promoted to green at the next major review.
17 Apr 2023	Intellectual disability - microarray and sequencing v5.50	OTUD7A	Achchuthan Shanmugasundram Gene: otud7a has been classified as Amber List (Moderate Evidence).
17 Apr 2023	Intellectual disability - microarray and sequencing v5.51	OTUD7A	Achchuthan Shanmugasundram Classified gene: OTUD7A as Amber List (moderate evidence)
17 Apr 2023	Intellectual disability - microarray and sequencing v5.51	OTUD7A	Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence (three unrelated cases with biallelic variants and supportive functional evidence from mouse models) for this gene to be promoted to green at the next major review.
17 Apr 2023	Intellectual disability - microarray and sequencing v5.51	OTUD7A	Achchuthan Shanmugasundram Gene: otud7a has been classified as Amber List (Moderate Evidence).
17 Apr 2023	Intellectual disability - microarray and sequencing v5.51	OTUD7A	Achchuthan Shanmugasundram Classified gene: OTUD7A as Amber List (moderate evidence)
17 Apr 2023	Intellectual disability - microarray and sequencing v5.51	OTUD7A	Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence (three unrelated cases with biallelic variants and supportive functional evidence from mouse models) for this gene to be promoted to green at the next major review.
17 Apr 2023	Intellectual disability - microarray and sequencing v5.51	OTUD7A	Achchuthan Shanmugasundram Gene: otud7a has been classified as Amber List (Moderate Evidence).
17 Apr 2023	Intellectual disability - microarray and sequencing v5.51	OTUD7A	Achchuthan Shanmugasundram Classified gene: OTUD7A as Amber List (moderate evidence)
17 Apr 2023	Intellectual disability - microarray and sequencing v5.51	OTUD7A	Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence (three unrelated cases with biallelic variants and supportive functional evidence from mouse models) for this gene to be promoted to green at the next major review.
17 Apr 2023	Intellectual disability - microarray and sequencing v5.51	OTUD7A	Achchuthan Shanmugasundram Gene: otud7a has been classified as Amber List (Moderate Evidence).
17 Apr 2023	Intellectual disability - microarray and sequencing v5.50	OTUD7A	Achchuthan Shanmugasundram Classified gene: OTUD7A as Amber List (moderate evidence)
17 Apr 2023	Intellectual disability - microarray and sequencing v5.50	OTUD7A	Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence (three unrelated cases with biallelic variants and supportive functional evidence from mouse models) for this gene to be promoted to green at the next major review.
17 Apr 2023	Intellectual disability - microarray and sequencing v5.50	OTUD7A	Achchuthan Shanmugasundram Gene: otud7a has been classified as Amber List (Moderate Evidence).
17 Apr 2023	Intellectual disability - microarray and sequencing v5.50	OTUD7A	Achchuthan Shanmugasundram Classified gene: OTUD7A as Amber List (moderate evidence)
17 Apr 2023	Intellectual disability - microarray and sequencing v5.50	OTUD7A	Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence (three unrelated cases with biallelic variants and supportive functional evidence from mouse models) for this gene to be promoted to green at the next major review.
17 Apr 2023	Intellectual disability - microarray and sequencing v5.50	OTUD7A	Achchuthan Shanmugasundram Gene: otud7a has been classified as Amber List (Moderate Evidence).
17 Apr 2023	Intellectual disability - microarray and sequencing v5.50	OTUD7A	Achchuthan Shanmugasundram Tag Q2_23_promote_green tag was added to gene: OTUD7A.
17 Apr 2023	Intellectual disability - microarray and sequencing v5.50	OTUD7A	Achchuthan Shanmugasundram Classified gene: OTUD7A as Amber List (moderate evidence)
17 Apr 2023	Intellectual disability - microarray and sequencing v5.50	OTUD7A	Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence (three unrelated cases with biallelic variants and supportive functional evidence from mouse models) for this gene to be promoted to green at the next major review.
17 Apr 2023	Intellectual disability - microarray and sequencing v5.50	OTUD7A	Achchuthan Shanmugasundram Gene: otud7a has been classified as Amber List (Moderate Evidence).
17 Apr 2023	Intellectual disability - microarray and sequencing v5.50	OTUD7A	Achchuthan Shanmugasundram Classified gene: OTUD7A as Amber List (moderate evidence)
17 Apr 2023	Intellectual disability - microarray and sequencing v5.50	OTUD7A	Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence (three unrelated cases with biallelic variants and supportive functional evidence from mouse models) for this gene to be promoted to green at the next major review.
17 Apr 2023	Intellectual disability - microarray and sequencing v5.50	OTUD7A	Achchuthan Shanmugasundram Gene: otud7a has been classified as Amber List (Moderate Evidence).
17 Apr 2023	Intellectual disability - microarray and sequencing v5.49	OTUD7A	Achchuthan Shanmugasundram Publications for gene: OTUD7A were set to 31997314; 29395075; 29395074; 33381903; 36180924
17 Apr 2023	Intellectual disability - microarray and sequencing v5.49	OTUD7A	Achchuthan Shanmugasundram Publications for gene: OTUD7A were set to 31997314; 29395075; 29395074; 33381903; 36180924
17 Apr 2023	Intellectual disability - microarray and sequencing v5.49	OTUD7A	Achchuthan Shanmugasundram Publications for gene: OTUD7A were set to 31997314; 29395075; 29395074; 33381903; 36180924
17 Apr 2023	Intellectual disability - microarray and sequencing v5.49	OTUD7A	Achchuthan Shanmugasundram Publications for gene: OTUD7A were set to 31997314; 29395075; 29395074; 33381903; 36180924
17 Apr 2023	Intellectual disability - microarray and sequencing v5.49	OTUD7A	Achchuthan Shanmugasundram Publications for gene: OTUD7A were set to 31997314; 29395075; 29395074; 33381903; 36180924
17 Apr 2023	Intellectual disability - microarray and sequencing v5.49	OTUD7A	Achchuthan Shanmugasundram Publications for gene: OTUD7A were set to 31997314; 29395075; 29395074; 33381903; 36180924
17 Apr 2023	Intellectual disability - microarray and sequencing v5.48	OTUD7A	Achchuthan Shanmugasundram Publications for gene: OTUD7A were set to 31997314; 29395075; 29395074; 33381903; 36180924
17 Apr 2023	Intellectual disability - microarray and sequencing v5.48	OTUD7A	Achchuthan Shanmugasundram Publications for gene: OTUD7A were set to 31997314; 29395075; 29395074
17 Apr 2023	Intellectual disability - microarray and sequencing v5.47	OTUD7A	Achchuthan Shanmugasundram reviewed gene: OTUD7A: Rating: GREEN; Mode of pathogenicity: None; Publications: 29395075, 31997314, 33381903, 36180924; Phenotypes: intellectual disability, MONDO:0001071; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
13 Apr 2023	Intellectual disability - microarray and sequencing v5.47	CLCN4	Arina Puzriakova Phenotypes for gene: CLCN4 were changed from Mental retardation, X-linked 49-15 300114 to Raynaud-Claes syndrome, OMIM:300114
13 Apr 2023	Intellectual disability - microarray and sequencing v5.46	PDHX	Arina Puzriakova Phenotypes for gene: PDHX were changed from Lacticacidemia due to PDX1 deficiency 245349 to Lacticacidemia due to PDX1 deficiency, OMIM:245349
13 Apr 2023	Intellectual disability - microarray and sequencing v5.45	PDHB	Arina Puzriakova Phenotypes for gene: PDHB were changed from Pyruvate dehydrogenase E1-beta deficiency, MIM#614111 to Pyruvate dehydrogenase E1-beta deficiency, OMIM:614111
13 Apr 2023	Intellectual disability - microarray and sequencing v5.44	PC	Arina Puzriakova Phenotypes for gene: PC were changed from Pyruvate carboxylase deficiency, 266150; PYRUVATE CARBOXYLASE DEFICIENCY (PC DEFICIENCY) to Pyruvate carboxylase deficiency, OMIM:266150
13 Apr 2023	Intellectual disability - microarray and sequencing v5.43	NDUFS1	Arina Puzriakova Phenotypes for gene: NDUFS1 were changed from Mitochondrial complex I deficiency, 252010; LEIGH SYNDROME (NUCLEAR DNA MUTATION) to Mitochondrial complex I deficiency, nuclear type 5, OMIM:618226
13 Apr 2023	Intellectual disability - microarray and sequencing v5.42	DARS2	Arina Puzriakova Phenotypes for gene: DARS2 were changed from Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, 611105; LEUKOENCEPHALOPATHY WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LACTATE ELEVATION to Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, OMIM:611105
13 Apr 2023	Intellectual disability - microarray and sequencing v5.41	SUCLA2	Arina Puzriakova Phenotypes for gene: SUCLA2 were changed from Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria); OMIM #612073 to Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria), OMIM:612073
13 Apr 2023	Intellectual disability - microarray and sequencing v5.40	NADK2	Arina Puzriakova Phenotypes for gene: NADK2 were changed from ?2,4-dienoyl-CoA reductase deficiency to 2,4-dienoyl-CoA reductase deficiency, OMIM:616034
13 Apr 2023	Intellectual disability - microarray and sequencing v5.39	COX14	Arina Puzriakova Mode of inheritance for gene: COX14 was changed from MITOCHONDRIAL to BIALLELIC, autosomal or pseudoautosomal
12 Apr 2023	Intellectual disability - microarray and sequencing v5.38	NAPB	Arina Puzriakova Phenotypes for gene: NAPB were changed from Early infantile epileptic encephalopathy to Developmental and epileptic encephalopathy 107, OMIM:620033
12 Apr 2023	Intellectual disability - microarray and sequencing v5.37	IQSEC2	Achchuthan Shanmugasundram Added comment: Comment on mode of inheritance: There is sufficient evidence (>3 female cases with monoallelic variants causing ID) to suggest that MOI should be updated to 'X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)' in the next major review. In addition, intellectual disability (MIM #309530) has been associated in both OMIM and Gene2Phenotype with X-linked dominant inheritance.
12 Apr 2023	Intellectual disability - microarray and sequencing v5.37	IQSEC2	Achchuthan Shanmugasundram Mode of inheritance for gene: IQSEC2 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, biallelic mutations in females
12 Apr 2023	Intellectual disability - microarray and sequencing v5.37	IQSEC2	Achchuthan Shanmugasundram Added comment: Comment on mode of inheritance: There is sufficient evidence (>3 female cases with monoallelic variants causing ID) to suggest that MOI should be updated to 'X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)' in the next major review. In addition, intellectual disability (MIM #309530) has been associated in both OMIM and Gene2Phenotype with X-linked dominant inheritance.
12 Apr 2023	Intellectual disability - microarray and sequencing v5.37	IQSEC2	Achchuthan Shanmugasundram Mode of inheritance for gene: IQSEC2 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, biallelic mutations in females
12 Apr 2023	Intellectual disability - microarray and sequencing v5.37	IQSEC2	Achchuthan Shanmugasundram Added comment: Comment on mode of inheritance: There is sufficient evidence (>3 female cases with monoallelic variants causing ID) to suggest that MOI should be updated to 'X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)' in the next major review. In addition, intellectual disability (MIM #309530) has been associated in both OMIM and Gene2Phenotype with X-linked dominant inheritance.
12 Apr 2023	Intellectual disability - microarray and sequencing v5.37	IQSEC2	Achchuthan Shanmugasundram Mode of inheritance for gene: IQSEC2 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, biallelic mutations in females
12 Apr 2023	Intellectual disability - microarray and sequencing v5.37	IQSEC2	Achchuthan Shanmugasundram Deleted their comment
12 Apr 2023	Intellectual disability - microarray and sequencing v5.37	IQSEC2	Achchuthan Shanmugasundram Deleted their comment
12 Apr 2023	Intellectual disability - microarray and sequencing v5.37	IQSEC2	Achchuthan Shanmugasundram Added comment: Comment on mode of inheritance: There is sufficient evidence (>3 female cases with monoallelic variants causing ID) to suggest that MOI should be updated to 'X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)' in the next major review. In addition, intellectual disability (MIM #309530) has been associated in both OMIM and Gene2Phenotype with X-linked dominant inheritance.
12 Apr 2023	Intellectual disability - microarray and sequencing v5.37	IQSEC2	Achchuthan Shanmugasundram Mode of inheritance for gene: IQSEC2 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, biallelic mutations in females
12 Apr 2023	Intellectual disability - microarray and sequencing v5.36	IQSEC2	Achchuthan Shanmugasundram Added comment: Comment on mode of inheritance: There is sufficient evidence (>3 female cases with monoallelic variants causing ID) to suggest that MOI should be updated to 'X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)' in the next major review. In addition, intellectual disability (MIM #309530) has been associated in both OMIM and Gene2Phenotype with X-linked dominant inheritance.
12 Apr 2023	Intellectual disability - microarray and sequencing v5.36	IQSEC2	Achchuthan Shanmugasundram Mode of inheritance for gene: IQSEC2 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, biallelic mutations in females
12 Apr 2023	Intellectual disability - microarray and sequencing v5.36	IQSEC2	Achchuthan Shanmugasundram Added comment: Comment on mode of inheritance: There is sufficient evidence (>3 female cases with monoallelic variants causing ID) to suggest that MOI should be updated to 'X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)' in the next major review. In addition, intellectual disability (MIM #309530) has been associated in both OMIM and Gene2Phenotype with X-linked dominant inheritance.
12 Apr 2023	Intellectual disability - microarray and sequencing v5.36	IQSEC2	Achchuthan Shanmugasundram Mode of inheritance for gene: IQSEC2 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, biallelic mutations in females
12 Apr 2023	Intellectual disability - microarray and sequencing v5.35	IQSEC2	Achchuthan Shanmugasundram changed review comment from: There are more than 20 unrelated cases identified with variants in IQSEC2 gene, as reported in publications. Moderate to severe intellectual disability was present in all affected males. De novo, truncating variants correlate with severe disease in both female and male patients harboring an IQSEC2 alteration. Missense variants in male and female patients account for a milder disease overall, with more severe symptoms in males than females. This evidence suggests that the MOI should be 'X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)'. Both OMIM and Gene2Phenotype have associated X-linked dominant variants in IQSEC2 with intellectual disability (MIM #309530); to: There are more than 20 unrelated cases identified with variants in IQSEC2 gene, as reported in publications. Moderate to severe intellectual disability was present in all affected males. De novo, truncating variants correlate with severe disease in both female and male patients harboring an IQSEC2 alteration. Missense variants in male and female patients account for a milder disease overall, with more severe symptoms in males than females.
12 Apr 2023	Intellectual disability - microarray and sequencing v5.35	IQSEC2	Achchuthan Shanmugasundram Publications for gene: IQSEC2 were set to 20473311; 23674175; 30842726; 31415821; 33368194
12 Apr 2023	Intellectual disability - microarray and sequencing v5.36	IQSEC2	Achchuthan Shanmugasundram Publications for gene: IQSEC2 were set to 20473311; 23674175; 30842726; 31415821; 33368194
12 Apr 2023	Intellectual disability - microarray and sequencing v5.36	IQSEC2	Achchuthan Shanmugasundram Publications for gene: IQSEC2 were set to 20473311; 23674175; 30842726; 31415821; 33368194
12 Apr 2023	Intellectual disability - microarray and sequencing v5.36	IQSEC2	Achchuthan Shanmugasundram Publications for gene: IQSEC2 were set to 20473311; 23674175; 30842726; 31415821; 33368194
12 Apr 2023	Intellectual disability - microarray and sequencing v5.35	IQSEC2	Achchuthan Shanmugasundram Publications for gene: IQSEC2 were set to 20473311; 23674175; 30842726; 31415821; 33368194
12 Apr 2023	Intellectual disability - microarray and sequencing v5.36	IQSEC2	Achchuthan Shanmugasundram Publications for gene: IQSEC2 were set to 20473311; 23674175; 30842726; 31415821; 33368194
12 Apr 2023	Intellectual disability - microarray and sequencing v5.35	IQSEC2	Achchuthan Shanmugasundram Publications for gene: IQSEC2 were set to 20473311; 23674175; 30842726; 31415821; 33368194
12 Apr 2023	Intellectual disability - microarray and sequencing v5.35	IQSEC2	Achchuthan Shanmugasundram Publications for gene: IQSEC2 were set to 20473311; 23674175; 30842726; 31415821; 33368194
12 Apr 2023	Intellectual disability - microarray and sequencing v5.35	IQSEC2	Achchuthan Shanmugasundram Publications for gene: IQSEC2 were set to
12 Apr 2023	Intellectual disability - microarray and sequencing v5.34	IQSEC2	Achchuthan Shanmugasundram Tag Q2_23_MOI tag was added to gene: IQSEC2.
12 Apr 2023	Intellectual disability - microarray and sequencing v5.34	IQSEC2	Achchuthan Shanmugasundram reviewed gene: IQSEC2: Rating: GREEN; Mode of pathogenicity: None; Publications: 20473311, 23674175, 30842726, 31415821, 33368194; Phenotypes: Intellectual developmental disorder, X-linked 1, OMIM:309530; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
12 Apr 2023	Intellectual disability - microarray and sequencing v5.34	HUWE1	Achchuthan Shanmugasundram Tag Q2_23_MOI tag was added to gene: HUWE1.
12 Apr 2023	Intellectual disability - microarray and sequencing v5.34	HUWE1	Achchuthan Shanmugasundram Deleted their comment
12 Apr 2023	Intellectual disability - microarray and sequencing v5.34	HUWE1	Achchuthan Shanmugasundram Deleted their comment
12 Apr 2023	Intellectual disability - microarray and sequencing v5.34	HUWE1	Achchuthan Shanmugasundram Deleted their comment
12 Apr 2023	Intellectual disability - microarray and sequencing v5.34	HUWE1	Achchuthan Shanmugasundram Deleted their comment
12 Apr 2023	Intellectual disability - microarray and sequencing v5.34	HUWE1	Achchuthan Shanmugasundram Added comment: Comment on mode of inheritance: There is sufficient evidence for updating the MOI of this gene from 'X-LINKED: hemizygous mutation in males, biallelic mutations in females' to 'X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)'.
12 Apr 2023	Intellectual disability - microarray and sequencing v5.34	HUWE1	Achchuthan Shanmugasundram Mode of inheritance for gene: HUWE1 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, biallelic mutations in females
12 Apr 2023	Intellectual disability - microarray and sequencing v5.34	HUWE1	Achchuthan Shanmugasundram Added comment: Comment on mode of inheritance: There is sufficient evidence for updating the MOI of this gene from 'X-LINKED: hemizygous mutation in males, biallelic mutations in females' to 'X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)'.
12 Apr 2023	Intellectual disability - microarray and sequencing v5.34	HUWE1	Achchuthan Shanmugasundram Mode of inheritance for gene: HUWE1 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, biallelic mutations in females
12 Apr 2023	Intellectual disability - microarray and sequencing v5.34	HUWE1	Achchuthan Shanmugasundram changed review comment from: Comment on mode of inheritance: There is sufficient evidence for updating the MOI of this gene from 'X-LINKED: hemizygous mutation in males, biallelic mutations in females' to 'X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)'.; to: Comment on mode of inheritance: There is sufficient evidence for updating the MOI of this gene from 'X-LINKED: hemizygous mutation in males, biallelic mutations in females' to 'X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)' in the next major review.
12 Apr 2023	Intellectual disability - microarray and sequencing v5.34	HUWE1	Achchuthan Shanmugasundram Added comment: Comment on mode of inheritance: There is sufficient evidence for updating the MOI of this gene from 'X-LINKED: hemizygous mutation in males, biallelic mutations in females' to 'X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)'.
12 Apr 2023	Intellectual disability - microarray and sequencing v5.34	HUWE1	Achchuthan Shanmugasundram Mode of inheritance for gene: HUWE1 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, biallelic mutations in females
12 Apr 2023	Intellectual disability - microarray and sequencing v5.33	HUWE1	Achchuthan Shanmugasundram Added comment: Comment on mode of inheritance: There is sufficient evidence for updating the MOI of this gene from 'X-LINKED: hemizygous mutation in males, biallelic mutations in females' to 'X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)'.
12 Apr 2023	Intellectual disability - microarray and sequencing v5.33	HUWE1	Achchuthan Shanmugasundram Mode of inheritance for gene: HUWE1 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, biallelic mutations in females
12 Apr 2023	Intellectual disability - microarray and sequencing v5.33	HUWE1	Achchuthan Shanmugasundram Added comment: Comment on mode of inheritance: There is sufficient evidence for updating the MOI of this gene from 'X-LINKED: hemizygous mutation in males, biallelic mutations in females' to 'X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)'.
12 Apr 2023	Intellectual disability - microarray and sequencing v5.33	HUWE1	Achchuthan Shanmugasundram Mode of inheritance for gene: HUWE1 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, biallelic mutations in females
12 Apr 2023	Intellectual disability - microarray and sequencing v5.32	HUWE1	Achchuthan Shanmugasundram Publications for gene: HUWE1 were set to 7943042; 18252223; 24896178; 25529582; 29180823
12 Apr 2023	Intellectual disability - microarray and sequencing v5.34	HUWE1	Achchuthan Shanmugasundram Publications for gene: HUWE1 were set to 7943042; 18252223; 24896178; 25529582; 29180823
12 Apr 2023	Intellectual disability - microarray and sequencing v5.32	HUWE1	Achchuthan Shanmugasundram Publications for gene: HUWE1 were set to 7943042; 18252223; 24896178; 25529582; 29180823
12 Apr 2023	Intellectual disability - microarray and sequencing v5.33	HUWE1	Achchuthan Shanmugasundram Publications for gene: HUWE1 were set to 7943042; 18252223; 24896178; 25529582; 29180823
12 Apr 2023	Intellectual disability - microarray and sequencing v5.31	HUWE1	Achchuthan Shanmugasundram Phenotypes for gene: HUWE1 were changed from Intellectual developmental disorder, X-linked syndromic, Turner type, OMIM:309590 to Intellectual developmental disorder, X-linked syndromic, Turner type, OMIM:309590
12 Apr 2023	Intellectual disability - microarray and sequencing v5.33	HUWE1	Achchuthan Shanmugasundram Publications for gene: HUWE1 were set to 7943042; 18252223; 24896178; 25529582; 29180823
12 Apr 2023	Intellectual disability - microarray and sequencing v5.33	HUWE1	Achchuthan Shanmugasundram Publications for gene: HUWE1 were set to 7943042; 18252223; 24896178; 25529582; 29180823
12 Apr 2023	Intellectual disability - microarray and sequencing v5.32	HUWE1	Achchuthan Shanmugasundram Phenotypes for gene: HUWE1 were changed from Intellectual developmental disorder, X-linked syndromic, Turner type, OMIM:309590 to Intellectual developmental disorder, X-linked syndromic, Turner type, OMIM:309590
12 Apr 2023	Intellectual disability - microarray and sequencing v5.32	HUWE1	Achchuthan Shanmugasundram Phenotypes for gene: HUWE1 were changed from Intellectual developmental disorder, X-linked syndromic, Turner type, OMIM:309590 to Intellectual developmental disorder, X-linked syndromic, Turner type, OMIM:309590
12 Apr 2023	Intellectual disability - microarray and sequencing v5.32	HUWE1	Achchuthan Shanmugasundram Publications for gene: HUWE1 were set to
12 Apr 2023	Intellectual disability - microarray and sequencing v5.32	HUWE1	Achchuthan Shanmugasundram Phenotypes for gene: HUWE1 were changed from Intellectual developmental disorder, X-linked syndromic, Turner type, OMIM:309590 to Intellectual developmental disorder, X-linked syndromic, Turner type, OMIM:309590
12 Apr 2023	Intellectual disability - microarray and sequencing v5.32	HUWE1	Achchuthan Shanmugasundram Phenotypes for gene: HUWE1 were changed from Intellectual developmental disorder, X-linked syndromic, Turner type, OMIM:309590 to Intellectual developmental disorder, X-linked syndromic, Turner type, OMIM:309590
12 Apr 2023	Intellectual disability - microarray and sequencing v5.32	HUWE1	Achchuthan Shanmugasundram Phenotypes for gene: HUWE1 were changed from Intellectual developmental disorder, X-linked syndromic, Turner type, OMIM:309590 to Intellectual developmental disorder, X-linked syndromic, Turner type, OMIM:309590
12 Apr 2023	Intellectual disability - microarray and sequencing v5.32	HUWE1	Achchuthan Shanmugasundram Phenotypes for gene: HUWE1 were changed from Intellectual developmental disorder, X-linked syndromic, Turner type, OMIM:309590 to Intellectual developmental disorder, X-linked syndromic, Turner type, OMIM:309590
12 Apr 2023	Intellectual disability - microarray and sequencing v5.31	HUWE1	Achchuthan Shanmugasundram Phenotypes for gene: HUWE1 were changed from Intellectual developmental disorder, X-linked syndromic, Turner type, OMIM:309590 to Intellectual developmental disorder, X-linked syndromic, Turner type, OMIM:309590
12 Apr 2023	Intellectual disability - microarray and sequencing v5.31	HUWE1	Achchuthan Shanmugasundram Phenotypes for gene: HUWE1 were changed from Intellectual developmental disorder, X-linked syndromic, Turner type, OMIM:309590 to Intellectual developmental disorder, X-linked syndromic, Turner type, OMIM:309590
12 Apr 2023	Intellectual disability - microarray and sequencing v5.31	HUWE1	Achchuthan Shanmugasundram Phenotypes for gene: HUWE1 were changed from Intellectual developmental disorder, X-linked syndromic, Turner type, OMIM:309590 to Intellectual developmental disorder, X-linked syndromic, Turner type, OMIM:309590
12 Apr 2023	Intellectual disability - microarray and sequencing v5.31	HUWE1	Achchuthan Shanmugasundram Phenotypes for gene: HUWE1 were changed from Intellectual developmental disorder, X-linked syndromic, Turner type, OMIM:309590 to Intellectual developmental disorder, X-linked syndromic, Turner type, OMIM:309590
12 Apr 2023	Intellectual disability - microarray and sequencing v5.31	HUWE1	Achchuthan Shanmugasundram Phenotypes for gene: HUWE1 were changed from Mental retardation, X-linked syndromic, Turner type, 300706; MENTAL RETARDATION SYNDROMIC X-LINKED TURNER TYPE (MRXST) to Intellectual developmental disorder, X-linked syndromic, Turner type, OMIM:309590
12 Apr 2023	Intellectual disability - microarray and sequencing v5.30	HUWE1	Achchuthan Shanmugasundram reviewed gene: HUWE1: Rating: GREEN; Mode of pathogenicity: None; Publications: 29180823; Phenotypes: Intellectual developmental disorder, X-linked syndromic, Turner type, OMIM:309590; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
12 Apr 2023	Intellectual disability - microarray and sequencing v5.30	TRAPPC10	Achchuthan Shanmugasundram Classified gene: TRAPPC10 as Amber List (moderate evidence)
12 Apr 2023	Intellectual disability - microarray and sequencing v5.30	TRAPPC10	Achchuthan Shanmugasundram Added comment: Comment on list classification: This gene should be rated AMBER as there are only two unrelated cases with intellectual disability and global developmental delay. Although there are functional studies available, no cognitive defects were reported in the mouse model. The 'watchlist' tag has been added to review this gene rating regularly in light of any new evidence.
12 Apr 2023	Intellectual disability - microarray and sequencing v5.30	TRAPPC10	Achchuthan Shanmugasundram Gene: trappc10 has been classified as Amber List (Moderate Evidence).
12 Apr 2023	Intellectual disability - microarray and sequencing v5.30	TRAPPC10	Achchuthan Shanmugasundram Classified gene: TRAPPC10 as Amber List (moderate evidence)
12 Apr 2023	Intellectual disability - microarray and sequencing v5.30	TRAPPC10	Achchuthan Shanmugasundram Added comment: Comment on list classification: This gene should be rated AMBER as there are only two unrelated cases with intellectual disability and global developmental delay. Although there are functional studies available, no cognitive defects were reported in the mouse model. The 'watchlist' tag has been added to review this gene rating regularly in light of any new evidence.
12 Apr 2023	Intellectual disability - microarray and sequencing v5.30	TRAPPC10	Achchuthan Shanmugasundram Gene: trappc10 has been classified as Amber List (Moderate Evidence).
12 Apr 2023	Intellectual disability - microarray and sequencing v5.30	TRAPPC10	Achchuthan Shanmugasundram Classified gene: TRAPPC10 as Amber List (moderate evidence)
12 Apr 2023	Intellectual disability - microarray and sequencing v5.30	TRAPPC10	Achchuthan Shanmugasundram Added comment: Comment on list classification: This gene should be rated AMBER as there are only two unrelated cases with intellectual disability and global developmental delay. Although there are functional studies available, no cognitive defects were reported in the mouse model. The 'watchlist' tag has been added to review this gene rating regularly in light of any new evidence.
12 Apr 2023	Intellectual disability - microarray and sequencing v5.30	TRAPPC10	Achchuthan Shanmugasundram Gene: trappc10 has been classified as Amber List (Moderate Evidence).
12 Apr 2023	Intellectual disability - microarray and sequencing v5.30	TRAPPC10	Achchuthan Shanmugasundram Classified gene: TRAPPC10 as Amber List (moderate evidence)
12 Apr 2023	Intellectual disability - microarray and sequencing v5.30	TRAPPC10	Achchuthan Shanmugasundram Added comment: Comment on list classification: This gene should be rated AMBER as there are only two unrelated cases with intellectual disability and global developmental delay. Although there are functional studies available, no cognitive defects were reported in the mouse model. The 'watchlist' tag has been added to review this gene rating regularly in light of any new evidence.
12 Apr 2023	Intellectual disability - microarray and sequencing v5.30	TRAPPC10	Achchuthan Shanmugasundram Gene: trappc10 has been classified as Amber List (Moderate Evidence).
12 Apr 2023	Intellectual disability - microarray and sequencing v5.30	TRAPPC10	Achchuthan Shanmugasundram Classified gene: TRAPPC10 as Amber List (moderate evidence)
12 Apr 2023	Intellectual disability - microarray and sequencing v5.30	TRAPPC10	Achchuthan Shanmugasundram Added comment: Comment on list classification: This gene should be rated AMBER as there are only two unrelated cases with intellectual disability and global developmental delay. Although there are functional studies available, no cognitive defects were reported in the mouse model. The 'watchlist' tag has been added to review this gene rating regularly in light of any new evidence.
12 Apr 2023	Intellectual disability - microarray and sequencing v5.30	TRAPPC10	Achchuthan Shanmugasundram Gene: trappc10 has been classified as Amber List (Moderate Evidence).
12 Apr 2023	Intellectual disability - microarray and sequencing v5.29	TRAPPC10	Achchuthan Shanmugasundram Classified gene: TRAPPC10 as Amber List (moderate evidence)
12 Apr 2023	Intellectual disability - microarray and sequencing v5.29	TRAPPC10	Achchuthan Shanmugasundram Added comment: Comment on list classification: This gene should be rated AMBER as there are only two unrelated cases with intellectual disability and global developmental delay. Although there are functional studies available, no cognitive defects were reported in the mouse model. The 'watchlist' tag has been added to review this gene rating regularly in light of any new evidence.
12 Apr 2023	Intellectual disability - microarray and sequencing v5.29	TRAPPC10	Achchuthan Shanmugasundram Gene: trappc10 has been classified as Amber List (Moderate Evidence).
12 Apr 2023	Intellectual disability - microarray and sequencing v5.29	TRAPPC10	Achchuthan Shanmugasundram Classified gene: TRAPPC10 as Amber List (moderate evidence)
12 Apr 2023	Intellectual disability - microarray and sequencing v5.29	TRAPPC10	Achchuthan Shanmugasundram Added comment: Comment on list classification: This gene should be rated AMBER as there are only two unrelated cases with intellectual disability and global developmental delay. Although there are functional studies available, no cognitive defects were reported in the mouse model. The 'watchlist' tag has been added to review this gene rating regularly in light of any new evidence.
12 Apr 2023	Intellectual disability - microarray and sequencing v5.29	TRAPPC10	Achchuthan Shanmugasundram Gene: trappc10 has been classified as Amber List (Moderate Evidence).
12 Apr 2023	Intellectual disability - microarray and sequencing v5.28	TRAPPC10	Achchuthan Shanmugasundram Phenotypes for gene: TRAPPC10 were changed from Neurodevelopmental disorder with microcephaly, short stature, and speech delay, OMIM:620027 to Neurodevelopmental disorder with microcephaly, short stature, and speech delay, OMIM:620027
12 Apr 2023	Intellectual disability - microarray and sequencing v5.28	TRAPPC10	Achchuthan Shanmugasundram Phenotypes for gene: TRAPPC10 were changed from Neurodevelopmental disorder with microcephaly, short stature, and speech delay, OMIM:620027 to Neurodevelopmental disorder with microcephaly, short stature, and speech delay, OMIM:620027
12 Apr 2023	Intellectual disability - microarray and sequencing v5.27	TRAPPC10	Achchuthan Shanmugasundram Phenotypes for gene: TRAPPC10 were changed from Neurodevelopmental disorder with microcephaly, short stature, and speech delay, OMIM:620027 to Neurodevelopmental disorder with microcephaly, short stature, and speech delay, OMIM:620027
12 Apr 2023	Intellectual disability - microarray and sequencing v5.28	TRAPPC10	Achchuthan Shanmugasundram Phenotypes for gene: TRAPPC10 were changed from Neurodevelopmental disorder with microcephaly, short stature, and speech delay, OMIM:620027 to Neurodevelopmental disorder with microcephaly, short stature, and speech delay, OMIM:620027
12 Apr 2023	Intellectual disability - microarray and sequencing v5.28	TRAPPC10	Achchuthan Shanmugasundram Phenotypes for gene: TRAPPC10 were changed from Neurodevelopmental disorder with microcephaly, short stature, and speech delay, OMIM:620027 to Neurodevelopmental disorder with microcephaly, short stature, and speech delay, OMIM:620027
12 Apr 2023	Intellectual disability - microarray and sequencing v5.29	TRAPPC10	Achchuthan Shanmugasundram Phenotypes for gene: TRAPPC10 were changed from Neurodevelopmental disorder with microcephaly, short stature, and speech delay, OMIM:620027 to Neurodevelopmental disorder with microcephaly, short stature, and speech delay, OMIM:620027
12 Apr 2023	Intellectual disability - microarray and sequencing v5.30	TRAPPC10	Achchuthan Shanmugasundram Phenotypes for gene: TRAPPC10 were changed from Neurodevelopmental disorder with microcephaly, short stature, and speech delay, OMIM:620027 to Neurodevelopmental disorder with microcephaly, short stature, and speech delay, OMIM:620027
12 Apr 2023	Intellectual disability - microarray and sequencing v5.27	TRAPPC10	Achchuthan Shanmugasundram Phenotypes for gene: TRAPPC10 were changed from Neurodevelopmental disorder with microcephaly, short stature, and speech delay, OMIM:620027 to Neurodevelopmental disorder with microcephaly, short stature, and speech delay, OMIM:620027
12 Apr 2023	Intellectual disability - microarray and sequencing v5.28	TRAPPC10	Achchuthan Shanmugasundram Phenotypes for gene: TRAPPC10 were changed from Neurodevelopmental disorder with microcephaly, short stature, and speech delay, OMIM:620027 to Neurodevelopmental disorder with microcephaly, short stature, and speech delay, OMIM:620027
12 Apr 2023	Intellectual disability - microarray and sequencing v5.28	TRAPPC10	Achchuthan Shanmugasundram Tag watchlist tag was added to gene: TRAPPC10.
12 Apr 2023	Intellectual disability - microarray and sequencing v5.28	TRAPPC10	Achchuthan Shanmugasundram Phenotypes for gene: TRAPPC10 were changed from Neurodevelopmental disorder with microcephaly, short stature, and speech delay, OMIM:620027 to Neurodevelopmental disorder with microcephaly, short stature, and speech delay, OMIM:620027
12 Apr 2023	Intellectual disability - microarray and sequencing v5.28	TRAPPC10	Achchuthan Shanmugasundram Phenotypes for gene: TRAPPC10 were changed from Neurodevelopmental disorder with microcephaly, short stature, and speech delay, OMIM:620027 to Neurodevelopmental disorder with microcephaly, short stature, and speech delay, OMIM:620027
12 Apr 2023	Intellectual disability - microarray and sequencing v5.29	TRAPPC10	Achchuthan Shanmugasundram Phenotypes for gene: TRAPPC10 were changed from Neurodevelopmental disorder with microcephaly, short stature, and speech delay, OMIM:620027 to Neurodevelopmental disorder with microcephaly, short stature, and speech delay, OMIM:620027
12 Apr 2023	Intellectual disability - microarray and sequencing v5.27	TRAPPC10	Achchuthan Shanmugasundram Publications for gene: TRAPPC10 were set to 30167849; 35298461
12 Apr 2023	Intellectual disability - microarray and sequencing v5.28	TRAPPC10	Achchuthan Shanmugasundram Phenotypes for gene: TRAPPC10 were changed from Neurodevelopmental disorder with microcephaly, short stature, and speech delay, OMIM:620027 to Neurodevelopmental disorder with microcephaly, short stature, and speech delay, OMIM:620027
12 Apr 2023	Intellectual disability - microarray and sequencing v5.28	TRAPPC10	Achchuthan Shanmugasundram Phenotypes for gene: TRAPPC10 were changed from Neurodevelopmental disorder with microcephaly, short stature, and speech delay, OMIM:620027 to Neurodevelopmental disorder with microcephaly, short stature, and speech delay, OMIM:620027
12 Apr 2023	Intellectual disability - microarray and sequencing v5.28	TRAPPC10	Achchuthan Shanmugasundram Phenotypes for gene: TRAPPC10 were changed from Intellectual disability, MONDO:0001071 to Neurodevelopmental disorder with microcephaly, short stature, and speech delay, OMIM:620027
12 Apr 2023	Intellectual disability - microarray and sequencing v5.27	TRAPPC10	Achchuthan Shanmugasundram Publications for gene: TRAPPC10 were set to 30167849; 35298461
12 Apr 2023	Intellectual disability - microarray and sequencing v5.27	TRAPPC10	Achchuthan Shanmugasundram Publications for gene: TRAPPC10 were set to 30167849; 35298461
12 Apr 2023	Intellectual disability - microarray and sequencing v5.27	TRAPPC10	Achchuthan Shanmugasundram Publications for gene: TRAPPC10 were set to 30167849; 35298461
12 Apr 2023	Intellectual disability - microarray and sequencing v5.26	TRAPPC10	Achchuthan Shanmugasundram Publications for gene: TRAPPC10 were set to 30167849; 35298461
12 Apr 2023	Intellectual disability - microarray and sequencing v5.26	TRAPPC10	Achchuthan Shanmugasundram Publications for gene: TRAPPC10 were set to 30167849; 35298461
12 Apr 2023	Intellectual disability - microarray and sequencing v5.27	TRAPPC10	Achchuthan Shanmugasundram Publications for gene: TRAPPC10 were set to 30167849; 35298461
12 Apr 2023	Intellectual disability - microarray and sequencing v5.27	TRAPPC10	Achchuthan Shanmugasundram Publications for gene: TRAPPC10 were set to 30167849; 35298461
12 Apr 2023	Intellectual disability - microarray and sequencing v5.27	TRAPPC10	Achchuthan Shanmugasundram Publications for gene: TRAPPC10 were set to 30167849; 35298461
12 Apr 2023	Intellectual disability - microarray and sequencing v5.27	TRAPPC10	Achchuthan Shanmugasundram Publications for gene: TRAPPC10 were set to 30167849; 35298461
12 Apr 2023	Intellectual disability - microarray and sequencing v5.26	TRAPPC10	Achchuthan Shanmugasundram Publications for gene: TRAPPC10 were set to 30167849; 35298461
12 Apr 2023	Intellectual disability - microarray and sequencing v5.26	TRAPPC10	Achchuthan Shanmugasundram Publications for gene: TRAPPC10 were set to 30167849; 35298461
12 Apr 2023	Intellectual disability - microarray and sequencing v5.26	TRAPPC10	Achchuthan Shanmugasundram Publications for gene: TRAPPC10 were set to 30167849
12 Apr 2023	Intellectual disability - microarray and sequencing v5.25	TRAPPC10	Achchuthan Shanmugasundram reviewed gene: TRAPPC10: Rating: AMBER; Mode of pathogenicity: None; Publications: 30167849, 35298461; Phenotypes: Neurodevelopmental disorder with microcephaly, short stature, and speech delay, OMIM:620027; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
11 Apr 2023	Intellectual disability - microarray and sequencing v5.25	KDM5A	Achchuthan Shanmugasundram changed review comment from: Comment on list classification: As reviewed by Tracy Lester (Genetics laboratory, Oxford UK), there is sufficient evidence for this gene to be promoted to GREEN in the next major review. This gene can be associated with both monoallelic and biallelic inheritance as there are at least three cases each for both of them.; to: Comment on list classification:, There is sufficient evidence for this gene to be promoted to GREEN at the next major review. This gene can be associated with both monoallelic and biallelic inheritance as there are at least three cases each for both of them.
11 Apr 2023	Intellectual disability - microarray and sequencing v5.25	KDM5A	Achchuthan Shanmugasundram Tag Q2_23_NHS_review tag was added to gene: KDM5A.
11 Apr 2023	Intellectual disability - microarray and sequencing v5.25	KDM5A	Achchuthan Shanmugasundram Tag Q2_23_promote_green tag was added to gene: KDM5A.
11 Apr 2023	Intellectual disability - microarray and sequencing v5.25	KDM5A	Achchuthan Shanmugasundram Phenotypes for gene: KDM5A were changed from AUTOSOMAL RECESSIVE MENTAL RETARDATION; autism spectrum disorder, MONDO:0005258; intellectual disability, MONDO:0001071 to AUTOSOMAL RECESSIVE MENTAL RETARDATION; autism spectrum disorder, MONDO:0005258; intellectual disability, MONDO:0001071
11 Apr 2023	Intellectual disability - microarray and sequencing v5.25	KDM5A	Achchuthan Shanmugasundram Phenotypes for gene: KDM5A were changed from AUTOSOMAL RECESSIVE MENTAL RETARDATION; autism spectrum disorder, MONDO:0005258; intellectual disability, MONDO:0001071 to AUTOSOMAL RECESSIVE MENTAL RETARDATION; autism spectrum disorder, MONDO:0005258; intellectual disability, MONDO:0001071
11 Apr 2023	Intellectual disability - microarray and sequencing v5.25	KDM5A	Achchuthan Shanmugasundram Phenotypes for gene: KDM5A were changed from AUTOSOMAL RECESSIVE MENTAL RETARDATION; autism spectrum disorder, MONDO:0005258; intellectual disability, MONDO:0001071 to AUTOSOMAL RECESSIVE MENTAL RETARDATION; autism spectrum disorder, MONDO:0005258; intellectual disability, MONDO:0001071
11 Apr 2023	Intellectual disability - microarray and sequencing v5.25	KDM5A	Achchuthan Shanmugasundram Phenotypes for gene: KDM5A were changed from AUTOSOMAL RECESSIVE MENTAL RETARDATION to AUTOSOMAL RECESSIVE MENTAL RETARDATION; autism spectrum disorder, MONDO:0005258; intellectual disability, MONDO:0001071
11 Apr 2023	Intellectual disability - microarray and sequencing v5.24	KDM5A	Achchuthan Shanmugasundram changed review comment from: PMID:21937992 reported a family with recessive missense KDM5A variant presenting with an undefined developmental disorder characterised with intellectual disability and facial dysmorphisms. PMID:33350388 reported nine patients from seven unrelated families identified with variants in KDM5A, of which three unrelated patients harboured heterozygous variants, while six patients from four unrelated families had homozygous variants. These patients presented with autism spectrum disorder (ASD) and a spectrum of neurodevelopmental phenotypes including intellectual disability, lack of speech, developmental delay and motor impairment. In addition, loss of KDM5A has resulted in repetitive behaviors, sociability deficits, cognitive dysfunction, and abnormal dendritic morphogenesis in mice.; to: PMID:21937992 reported a family with recessive missense KDM5A variant presenting with an undefined developmental disorder characterised with intellectual disability and facial dysmorphisms. PMID:33350388 reported nine patients from seven unrelated families identified with variants in KDM5A, of which three unrelated patients harboured heterozygous variants, while six patients from four unrelated families had homozygous variants. These patients presented with autism spectrum disorder (ASD) and a spectrum of neurodevelopmental phenotypes including intellectual disability, lack of speech, developmental delay and motor impairment. In addition, loss of KDM5A has resulted in repetitive behaviors, sociability deficits, cognitive dysfunction, and abnormal dendritic morphogenesis in mice. This gene has already been associated with phenotype in Gene2Phenotype (biallelic inheritance with 'limited' rating), but not in OMIM.
11 Apr 2023	Intellectual disability - microarray and sequencing v5.24	KDM5A	Achchuthan Shanmugasundram Classified gene: KDM5A as Amber List (moderate evidence)
11 Apr 2023	Intellectual disability - microarray and sequencing v5.24	KDM5A	Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Tracy Lester (Genetics laboratory, Oxford UK), there is sufficient evidence for this gene to be promoted to GREEN in the next major review. This gene can be associated with both monoallelic and biallelic inheritance as there are at least three cases each for both of them.
11 Apr 2023	Intellectual disability - microarray and sequencing v5.24	KDM5A	Achchuthan Shanmugasundram Gene: kdm5a has been classified as Amber List (Moderate Evidence).
11 Apr 2023	Intellectual disability - microarray and sequencing v5.23	KDM5A	Achchuthan Shanmugasundram changed review comment from: PMID:21937992 reported a family with recessive missense KDM5A variant presenting with an undefined developmental disorder characterised with intellectual disability and facial dysmorphisms. PMID:33350388 reported nine patients from seven unrelated families identified with variants in KDM5A, of which three unrelated patients harboured heterozygous variants, while six patients from four unrelated families had homozygous variants. These patients presented with autism spectrum disorder (ASD) and a spectrum of neurodevelopmental phenotypes including intellectual disability, lack of speech, developmental delay and motor impairment.; to: PMID:21937992 reported a family with recessive missense KDM5A variant presenting with an undefined developmental disorder characterised with intellectual disability and facial dysmorphisms. PMID:33350388 reported nine patients from seven unrelated families identified with variants in KDM5A, of which three unrelated patients harboured heterozygous variants, while six patients from four unrelated families had homozygous variants. These patients presented with autism spectrum disorder (ASD) and a spectrum of neurodevelopmental phenotypes including intellectual disability, lack of speech, developmental delay and motor impairment. In addition, loss of KDM5A has resulted in repetitive behaviors, sociability deficits, cognitive dysfunction, and abnormal dendritic morphogenesis in mice.
11 Apr 2023	Intellectual disability - microarray and sequencing v5.23	KDM5A	Achchuthan Shanmugasundram Publications for gene: KDM5A were set to 21937992; 33350388
11 Apr 2023	Intellectual disability - microarray and sequencing v5.22	KDM5A	Achchuthan Shanmugasundram Publications for gene: KDM5A were set to 21937992; 33350388
11 Apr 2023	Intellectual disability - microarray and sequencing v5.23	KDM5A	Achchuthan Shanmugasundram Publications for gene: KDM5A were set to 21937992; 33350388
11 Apr 2023	Intellectual disability - microarray and sequencing v5.22	KDM5A	Achchuthan Shanmugasundram Publications for gene: KDM5A were set to 21937992; 33350388
11 Apr 2023	Intellectual disability - microarray and sequencing v5.22	KDM5A	Achchuthan Shanmugasundram Publications for gene: KDM5A were set to 21937992; 33350388
11 Apr 2023	Intellectual disability - microarray and sequencing v5.22	KDM5A	Achchuthan Shanmugasundram Publications for gene: KDM5A were set to 21937992; 33350388
11 Apr 2023	Intellectual disability - microarray and sequencing v5.22	KDM5A	Achchuthan Shanmugasundram Publications for gene: KDM5A were set to 21937992; 33350388
11 Apr 2023	Intellectual disability - microarray and sequencing v5.22	KDM5A	Achchuthan Shanmugasundram Publications for gene: KDM5A were set to 21937992; 33350388
11 Apr 2023	Intellectual disability - microarray and sequencing v5.22	KDM5A	Achchuthan Shanmugasundram Publications for gene: KDM5A were set to 21937992; 33350388
11 Apr 2023	Intellectual disability - microarray and sequencing v5.22	KDM5A	Achchuthan Shanmugasundram Publications for gene: KDM5A were set to 21937992; 33350388
11 Apr 2023	Intellectual disability - microarray and sequencing v5.22	KDM5A	Achchuthan Shanmugasundram Publications for gene: KDM5A were set to 21937992; 33350388
11 Apr 2023	Intellectual disability - microarray and sequencing v5.22	KDM5A	Achchuthan Shanmugasundram Publications for gene: KDM5A were set to 21937992; 33350388
11 Apr 2023	Intellectual disability - microarray and sequencing v5.22	KDM5A	Achchuthan Shanmugasundram Publications for gene: KDM5A were set to 21937992; 33350388
11 Apr 2023	Intellectual disability - microarray and sequencing v5.22	KDM5A	Achchuthan Shanmugasundram Publications for gene: KDM5A were set to 21937992; 33350388
11 Apr 2023	Intellectual disability - microarray and sequencing v5.22	KDM5A	Achchuthan Shanmugasundram Publications for gene: KDM5A were set to 21937992; 33350388
11 Apr 2023	Intellectual disability - microarray and sequencing v5.21	KDM5A	Achchuthan Shanmugasundram Publications for gene: KDM5A were set to 21937992
11 Apr 2023	Intellectual disability - microarray and sequencing v5.21	KDM5A	Achchuthan Shanmugasundram Mode of inheritance for gene: KDM5A was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
11 Apr 2023	Intellectual disability - microarray and sequencing v5.21	KDM5A	Achchuthan Shanmugasundram Mode of inheritance for gene: KDM5A was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
11 Apr 2023	Intellectual disability - microarray and sequencing v5.21	KDM5A	Achchuthan Shanmugasundram Mode of inheritance for gene: KDM5A was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
11 Apr 2023	Intellectual disability - microarray and sequencing v5.20	KDM5A	Achchuthan Shanmugasundram Mode of inheritance for gene: KDM5A was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
11 Apr 2023	Intellectual disability - microarray and sequencing v5.20	KDM5A	Achchuthan Shanmugasundram Mode of inheritance for gene: KDM5A was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
11 Apr 2023	Intellectual disability - microarray and sequencing v5.19	KDM5A	Achchuthan Shanmugasundram changed review comment from: PMID:21937992 reported a family with recessive missense KDM5A variant presenting with an undefined developmental disorder characterised with intellectual disability and facial dysmorphisms. PMID:33350388 reported nine patients from seven unrelated families identified with variants in KDM5A, of which three unrelated patients harboured heterozygous variants, while six patients from four unrelated families had homozygous variants. These patients presented with autism spectrum disorder (ASD) and a spectrum of neurodevelopmental phenotypes including intellectual disability, lack of speech and developmental delay.; to: PMID:21937992 reported a family with recessive missense KDM5A variant presenting with an undefined developmental disorder characterised with intellectual disability and facial dysmorphisms. PMID:33350388 reported nine patients from seven unrelated families identified with variants in KDM5A, of which three unrelated patients harboured heterozygous variants, while six patients from four unrelated families had homozygous variants. These patients presented with autism spectrum disorder (ASD) and a spectrum of neurodevelopmental phenotypes including intellectual disability, lack of speech, developmental delay and motor impairment.
11 Apr 2023	Intellectual disability - microarray and sequencing v5.19	KDM5A	Achchuthan Shanmugasundram reviewed gene: KDM5A: Rating: GREEN; Mode of pathogenicity: None; Publications: 21937992, 33350388; Phenotypes: autism spectrum disorder, MONDO:0005258, intellectual disability, MONDO:0001071; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
11 Apr 2023	Intellectual disability - microarray and sequencing v5.19	SPG7	Sarah Leigh commented on gene: SPG7
11 Apr 2023	Intellectual disability - microarray and sequencing v5.19	SPG7	Sarah Leigh Publications for gene: SPG7 were set to 22571692
11 Apr 2023	Intellectual disability - microarray and sequencing v5.18	SPG7	Sarah Leigh Mode of inheritance for gene: SPG7 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
11 Apr 2023	Intellectual disability - microarray and sequencing v5.17	SPG7	Sarah Leigh Phenotypes for gene: SPG7 were changed from Spastic paraplegia 7, autosomal recessive, 607259 to Spastic paraplegia 7, autosomal recessive, OMIM:607259; hereditary spastic paraplegia 7, MONDO:0011803
06 Apr 2023	Intellectual disability - microarray and sequencing v5.16	SPTAN1	Sarah Leigh Phenotypes for gene: SPTAN1 were changed from Epileptic encephalopathy, early infantile, 5, 613477; EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE TYPE 5 (EIEE5) to Developmental and epileptic encephalopathy 5, OMIM:613477; developmental and epileptic encephalopathy, 5, MONDO:0013277
06 Apr 2023	Intellectual disability - microarray and sequencing v5.15	SPTAN1	Sarah Leigh Publications for gene: SPTAN1 were set to
04 Apr 2023	Intellectual disability - microarray and sequencing v5.14	NFASC	Sarah Leigh Phenotypes for gene: NFASC were changed from Neurodevelopmental disorder with central and peripheral motor dysfunction 618356 to Neurodevelopmental disorder with central and peripheral motor dysfunction, OMIM:618356; neurodevelopmental disorder with central and peripheral motor dysfunction, MONDO:003269
04 Apr 2023	Intellectual disability - microarray and sequencing v5.13	MED11	Sarah Leigh Classified gene: MED11 as Amber List (moderate evidence)
04 Apr 2023	Intellectual disability - microarray and sequencing v5.13	MED11	Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
04 Apr 2023	Intellectual disability - microarray and sequencing v5.13	MED11	Sarah Leigh Gene: med11 has been classified as Amber List (Moderate Evidence).
04 Apr 2023	Intellectual disability - microarray and sequencing v5.12	MED11	Sarah Leigh gene: MED11 was added gene: MED11 was added to Intellectual disability - microarray and sequencing. Sources: Literature Q2_23_promote_green tags were added to gene: MED11. Mode of inheritance for gene: MED11 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MED11 were set to 36001086 Phenotypes for gene: MED11 were set to MED11-associated neurodevelopmental disorder Review for gene: MED11 was set to GREEN Added comment: Not associated with a phenotype in OMIM, but is associated with MED11-associated neurodevelopmental disorder in Gen2Phen. PMID: 36001086 reports a single MED11 variant (NM_001001683.4: c.325C>T, p.Arg109*), that segregates with the condition in five unrelated families, however, there is homozygosity between two of these families, idicating that they may be related. Global delay was observed in three individuals from three unrelated familes and seizures were evident in four individuals from four unrelated families. Severe microcephaly was apparent in the two unrelated familes where this parameter was recorded. Overall, the MED11-associated neurodevelopmental disorder appeared to result in profound effects and proved fatal at birth and 10 days in two of the cases reported. Sources: Literature
28 Mar 2023	Intellectual disability - microarray and sequencing v5.11	KDM5A	Tracy Lester reviewed gene: KDM5A: Rating: AMBER; Mode of pathogenicity: None; Publications: 33350388; Phenotypes: ASD, lack of speech; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
27 Mar 2023	Intellectual disability - microarray and sequencing v5.11	UBAP2L	Achchuthan Shanmugasundram changed review comment from: Comment on list classification: As reviewed by Konstantinos Varvagiannis, there are at least 8 unrelated cases that had borderline to severe intellectual disability (ID) as identified with formal intellectual evaluation and supported by functional studies from mouse models. This gene therefore has sufficient evidence for promoting to green at the next major review. This gene has not yet been associated with phenotypes in OMIM, but has been reported in Gene2Phenotype with a 'moderate rating'.; to: Comment on list classification: As reviewed by Konstantinos Varvagiannis, there are at least 8 unrelated cases that had borderline to severe intellectual disability (ID) as identified with formal intellectual evaluation and the association is supported by functional studies from mouse models. This gene therefore has sufficient evidence for promotion to green at the next major review. This gene has not yet been associated with phenotypes in OMIM, but has been reported in Gene2Phenotype with a 'moderate rating'.
27 Mar 2023	Intellectual disability - microarray and sequencing v5.11	UBAP2L	Achchuthan Shanmugasundram Deleted their comment
27 Mar 2023	Intellectual disability - microarray and sequencing v5.11	UBAP2L	Achchuthan Shanmugasundram Deleted their comment
27 Mar 2023	Intellectual disability - microarray and sequencing v5.11	UBAP2L	Achchuthan Shanmugasundram Deleted their comment
27 Mar 2023	Intellectual disability - microarray and sequencing v5.11	UBAP2L	Achchuthan Shanmugasundram Deleted their comment
27 Mar 2023	Intellectual disability - microarray and sequencing v5.11	UBAP2L	Achchuthan Shanmugasundram Deleted their comment
27 Mar 2023	Intellectual disability - microarray and sequencing v5.11	UBAP2L	Achchuthan Shanmugasundram changed review comment from: Comment on list classification: As reviewed by Konstantinos Varvagiannis, there are at least 8 unrelated cases that had borderline to severe intellectual disability (ID) as identified with formal intellectual evaluation and supported by functional studies from mouse models. This gene therefore has sufficient evidence for promoting to green at the next major review. This gene has not yet been associated with phenotypes in OMIM, but has been reported in Gene2Phenotype with a 'moderate rating'.; to: Comment on list classification: As reviewed by Konstantinos Varvagiannis, there are at least 8 unrelated cases that had borderline to severe intellectual disability (ID) as identified with formal intellectual evaluation and supported by functional studies from mouse models. This gene therefore has sufficient evidence for promoting to green at the next major review. This gene has not yet been associated with phenotypes in OMIM, but has been reported in Gene2Phenotype with a 'moderate rating'.
27 Mar 2023	Intellectual disability - microarray and sequencing v5.11	UBAP2L	Achchuthan Shanmugasundram Classified gene: UBAP2L as Amber List (moderate evidence)
27 Mar 2023	Intellectual disability - microarray and sequencing v5.11	UBAP2L	Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Konstantinos Varvagiannis, there are at least 8 unrelated cases that had borderline to severe intellectual disability (ID) as identified with formal intellectual evaluation and supported by functional studies from mouse models. This gene therefore has sufficient evidence for promoting to green at the next major review. This gene has not yet been associated with phenotypes in OMIM, but has been reported in Gene2Phenotype with a 'moderate rating'.
27 Mar 2023	Intellectual disability - microarray and sequencing v5.11	UBAP2L	Achchuthan Shanmugasundram Gene: ubap2l has been classified as Amber List (Moderate Evidence).
27 Mar 2023	Intellectual disability - microarray and sequencing v5.10	UBAP2L	Achchuthan Shanmugasundram Classified gene: UBAP2L as Amber List (moderate evidence)
27 Mar 2023	Intellectual disability - microarray and sequencing v5.10	UBAP2L	Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Konstantinos Varvagiannis, there are at least 8 unrelated cases that had borderline to severe intellectual disability (ID) as identified with formal intellectual evaluation and supported by functional studies from mouse models. This gene therefore has sufficient evidence for promoting to green at the next major review. This gene has not yet been associated with phenotypes in OMIM, but has been reported in Gene2Phenotype with a 'moderate rating'.
27 Mar 2023	Intellectual disability - microarray and sequencing v5.10	UBAP2L	Achchuthan Shanmugasundram Gene: ubap2l has been classified as Amber List (Moderate Evidence).
27 Mar 2023	Intellectual disability - microarray and sequencing v5.10	UBAP2L	Achchuthan Shanmugasundram Classified gene: UBAP2L as Amber List (moderate evidence)
27 Mar 2023	Intellectual disability - microarray and sequencing v5.10	UBAP2L	Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Konstantinos Varvagiannis, there are at least 8 unrelated cases that had borderline to severe intellectual disability (ID) as identified with formal intellectual evaluation and supported by functional studies from mouse models. This gene therefore has sufficient evidence for promoting to green at the next major review. This gene has not yet been associated with phenotypes in OMIM, but has been reported in Gene2Phenotype with a 'moderate rating'.
27 Mar 2023	Intellectual disability - microarray and sequencing v5.10	UBAP2L	Achchuthan Shanmugasundram Gene: ubap2l has been classified as Amber List (Moderate Evidence).
27 Mar 2023	Intellectual disability - microarray and sequencing v5.10	UBAP2L	Achchuthan Shanmugasundram Tag Q1_23_promote_green tag was added to gene: UBAP2L.
27 Mar 2023	Intellectual disability - microarray and sequencing v5.10	UBAP2L	Achchuthan Shanmugasundram Classified gene: UBAP2L as Amber List (moderate evidence)
27 Mar 2023	Intellectual disability - microarray and sequencing v5.10	UBAP2L	Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Konstantinos Varvagiannis, there are at least 8 unrelated cases that had borderline to severe intellectual disability (ID) as identified with formal intellectual evaluation and supported by functional studies from mouse models. This gene therefore has sufficient evidence for promoting to green at the next major review. This gene has not yet been associated with phenotypes in OMIM, but has been reported in Gene2Phenotype with a 'moderate rating'.
27 Mar 2023	Intellectual disability - microarray and sequencing v5.10	UBAP2L	Achchuthan Shanmugasundram Gene: ubap2l has been classified as Amber List (Moderate Evidence).
27 Mar 2023	Intellectual disability - microarray and sequencing v5.10	UBAP2L	Achchuthan Shanmugasundram Classified gene: UBAP2L as Amber List (moderate evidence)
27 Mar 2023	Intellectual disability - microarray and sequencing v5.10	UBAP2L	Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Konstantinos Varvagiannis, there are at least 8 unrelated cases that had borderline to severe intellectual disability (ID) as identified with formal intellectual evaluation and supported by functional studies from mouse models. This gene therefore has sufficient evidence for promoting to green at the next major review. This gene has not yet been associated with phenotypes in OMIM, but has been reported in Gene2Phenotype with a 'moderate rating'.
27 Mar 2023	Intellectual disability - microarray and sequencing v5.10	UBAP2L	Achchuthan Shanmugasundram Gene: ubap2l has been classified as Amber List (Moderate Evidence).
27 Mar 2023	Intellectual disability - microarray and sequencing v5.10	UBAP2L	Achchuthan Shanmugasundram Classified gene: UBAP2L as Amber List (moderate evidence)
27 Mar 2023	Intellectual disability - microarray and sequencing v5.10	UBAP2L	Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Konstantinos Varvagiannis, there are at least 8 unrelated cases that had borderline to severe intellectual disability (ID) as identified with formal intellectual evaluation and supported by functional studies from mouse models. This gene therefore has sufficient evidence for promoting to green at the next major review. This gene has not yet been associated with phenotypes in OMIM, but has been reported in Gene2Phenotype with a 'moderate rating'.
27 Mar 2023	Intellectual disability - microarray and sequencing v5.10	UBAP2L	Achchuthan Shanmugasundram Gene: ubap2l has been classified as Amber List (Moderate Evidence).
27 Mar 2023	Intellectual disability - microarray and sequencing v5.9	CAPRIN1	Achchuthan Shanmugasundram changed review comment from: Comment on list classification: As indicated by the previous reviewers, there is sufficient evidence (>10 unrelated cases) for this gene to be promoted to GREEN at the next major review. However, this gene has not yet been associated with relevant phenotypes in OMIM, but it has been reported in Gene2Phenotype with 'moderate' rating.; to: Comment on list classification: As indicated by the previous reviewers, there is sufficient evidence (>10 unrelated cases and supporting functional evidence) for this gene to be promoted to GREEN at the next major review. However, this gene has not yet been associated with relevant phenotypes in OMIM, but it has been reported in Gene2Phenotype with 'moderate' rating.
27 Mar 2023	Intellectual disability - microarray and sequencing v5.9	CAPRIN1	Achchuthan Shanmugasundram Mode of inheritance for gene: CAPRIN1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
27 Mar 2023	Intellectual disability - microarray and sequencing v5.9	CAPRIN1	Achchuthan Shanmugasundram Mode of inheritance for gene: CAPRIN1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
27 Mar 2023	Intellectual disability - microarray and sequencing v5.9	CAPRIN1	Achchuthan Shanmugasundram Mode of inheritance for gene: CAPRIN1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
27 Mar 2023	Intellectual disability - microarray and sequencing v5.9	CAPRIN1	Achchuthan Shanmugasundram Mode of inheritance for gene: CAPRIN1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
27 Mar 2023	Intellectual disability - microarray and sequencing v5.9	CAPRIN1	Achchuthan Shanmugasundram Mode of inheritance for gene: CAPRIN1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
27 Mar 2023	Intellectual disability - microarray and sequencing v5.8	CAPRIN1	Achchuthan Shanmugasundram Publications for gene: CAPRIN1 were set to 23849776; 35979925; 36136249
27 Mar 2023	Intellectual disability - microarray and sequencing v5.8	CAPRIN1	Achchuthan Shanmugasundram Publications for gene: CAPRIN1 were set to 23849776; 35979925; 36136249
27 Mar 2023	Intellectual disability - microarray and sequencing v5.8	CAPRIN1	Achchuthan Shanmugasundram Publications for gene: CAPRIN1 were set to 23849776; 35979925; 36136249
27 Mar 2023	Intellectual disability - microarray and sequencing v5.8	CAPRIN1	Achchuthan Shanmugasundram Deleted their comment
27 Mar 2023	Intellectual disability - microarray and sequencing v5.8	CAPRIN1	Achchuthan Shanmugasundram Deleted their comment
27 Mar 2023	Intellectual disability - microarray and sequencing v5.8	CAPRIN1	Achchuthan Shanmugasundram Publications for gene: CAPRIN1 were set to 23849776; 35979925; 36136249
27 Mar 2023	Intellectual disability - microarray and sequencing v5.7	CAPRIN1	Achchuthan Shanmugasundram Deleted their comment
27 Mar 2023	Intellectual disability - microarray and sequencing v5.7	CAPRIN1	Achchuthan Shanmugasundram Publications for gene: CAPRIN1 were set to 23849776; 35979925; 36136249
27 Mar 2023	Intellectual disability - microarray and sequencing v5.7	CAPRIN1	Achchuthan Shanmugasundram Publications for gene: CAPRIN1 were set to 23849776
27 Mar 2023	Intellectual disability - microarray and sequencing v5.6	CAPRIN1	Achchuthan Shanmugasundram Classified gene: CAPRIN1 as Amber List (moderate evidence)
27 Mar 2023	Intellectual disability - microarray and sequencing v5.6	CAPRIN1	Achchuthan Shanmugasundram Added comment: Comment on list classification: As indicated by the previous reviewers, there is sufficient evidence (>10 unrelated cases) for this gene to be promoted to GREEN at the next major review. However, this gene has not yet been associated with relevant phenotypes in OMIM, but it has been reported in Gene2Phenotype with 'moderate' rating.
27 Mar 2023	Intellectual disability - microarray and sequencing v5.6	CAPRIN1	Achchuthan Shanmugasundram Gene: caprin1 has been classified as Amber List (Moderate Evidence).
27 Mar 2023	Intellectual disability - microarray and sequencing v5.6	CAPRIN1	Achchuthan Shanmugasundram Classified gene: CAPRIN1 as Amber List (moderate evidence)
27 Mar 2023	Intellectual disability - microarray and sequencing v5.6	CAPRIN1	Achchuthan Shanmugasundram Added comment: Comment on list classification: As indicated by the previous reviewers, there is sufficient evidence (>10 unrelated cases) for this gene to be promoted to GREEN at the next major review. However, this gene has not yet been associated with relevant phenotypes in OMIM, but it has been reported in Gene2Phenotype with 'moderate' rating.
27 Mar 2023	Intellectual disability - microarray and sequencing v5.6	CAPRIN1	Achchuthan Shanmugasundram Gene: caprin1 has been classified as Amber List (Moderate Evidence).
27 Mar 2023	Intellectual disability - microarray and sequencing v5.6	CAPRIN1	Achchuthan Shanmugasundram Tag Q1_23_promote_green tag was added to gene: CAPRIN1.
27 Mar 2023	Intellectual disability - microarray and sequencing v5.6	CAPRIN1	Achchuthan Shanmugasundram Classified gene: CAPRIN1 as Amber List (moderate evidence)
27 Mar 2023	Intellectual disability - microarray and sequencing v5.6	CAPRIN1	Achchuthan Shanmugasundram Added comment: Comment on list classification: As indicated by the previous reviewers, there is sufficient evidence (>10 unrelated cases) for this gene to be promoted to GREEN at the next major review. However, this gene has not yet been associated with relevant phenotypes in OMIM, but it has been reported in Gene2Phenotype with 'moderate' rating.
27 Mar 2023	Intellectual disability - microarray and sequencing v5.6	CAPRIN1	Achchuthan Shanmugasundram Gene: caprin1 has been classified as Amber List (Moderate Evidence).
27 Mar 2023	Intellectual disability - microarray and sequencing v5.6	CAPRIN1	Achchuthan Shanmugasundram Classified gene: CAPRIN1 as Amber List (moderate evidence)
27 Mar 2023	Intellectual disability - microarray and sequencing v5.6	CAPRIN1	Achchuthan Shanmugasundram Added comment: Comment on list classification: As indicated by the previous reviewers, there is sufficient evidence (>10 unrelated cases) for this gene to be promoted to GREEN at the next major review. However, this gene has not yet been associated with relevant phenotypes in OMIM, but it has been reported in Gene2Phenotype with 'moderate' rating.
27 Mar 2023	Intellectual disability - microarray and sequencing v5.6	CAPRIN1	Achchuthan Shanmugasundram Gene: caprin1 has been classified as Amber List (Moderate Evidence).
23 Mar 2023	Intellectual disability - microarray and sequencing v5.5	ARF1	Achchuthan Shanmugasundram Added comment: Comment on publications: PMID:36345169 reported a paediatric patient identified with a monoallelic de novo missense variant (c.296 G > A; p.R99H) in the ARF1 gene, associated with developmental delay, hypotonia, intellectual disability and motor stereotypies. This patient did not exhibit periventricular heterotopias previously observed in other patients with ARF1 variants (including p.R99H). Functional analysis shows that the pathogenetic mechanism of the R99H-ARF1 variant involves constitutive activation with resultant Golgi and endosomal alterations.
23 Mar 2023	Intellectual disability - microarray and sequencing v5.5	ARF1	Achchuthan Shanmugasundram Publications for gene: ARF1 were set to 28868155; 34353862; 36345169
23 Mar 2023	Intellectual disability - microarray and sequencing v5.5	ARF1	Achchuthan Shanmugasundram Added comment: Comment on publications: PMID:36345169 reported a paediatric patient identified with a monoallelic de novo missense variant (c.296 G > A; p.R99H) in the ARF1 gene, associated with developmental delay, hypotonia, intellectual disability and motor stereotypies. This patient did not exhibit periventricular heterotopias previously observed in other patients with ARF1 variants (including p.R99H). Functional analysis shows that the pathogenetic mechanism of the R99H-ARF1 variant involves constitutive activation with resultant Golgi and endosomal alterations.
23 Mar 2023	Intellectual disability - microarray and sequencing v5.5	ARF1	Achchuthan Shanmugasundram Publications for gene: ARF1 were set to 28868155; 34353862; 36345169
23 Mar 2023	Intellectual disability - microarray and sequencing v5.4	ARF1	Achchuthan Shanmugasundram Added comment: Comment on publications: PMID:36345169 reported a paediatric patient identified with a monoallelic de novo missense variant (c.296 G > A; p.R99H) in the ARF1 gene, associated with developmental delay, hypotonia, intellectual disability and motor stereotypies. This patient did not exhibit periventricular heterotopias previously observed in other patients with ARF1 variants (including p.R99H). Functional analysis shows that the pathogenetic mechanism of the R99H-ARF1 variant involves constitutive activation with resultant Golgi and endosomal alterations.
23 Mar 2023	Intellectual disability - microarray and sequencing v5.4	ARF1	Achchuthan Shanmugasundram Publications for gene: ARF1 were set to 28868155; 34353862; 36345169
23 Mar 2023	Intellectual disability - microarray and sequencing v5.4	ARF1	Achchuthan Shanmugasundram Added comment: Comment on publications: PMID:36345169 reported a paediatric patient identified with a monoallelic de novo missense variant (c.296 G > A; p.R99H) in the ARF1 gene, associated with developmental delay, hypotonia, intellectual disability and motor stereotypies. This patient did not exhibit periventricular heterotopias previously observed in other patients with ARF1 variants (including p.R99H). Functional analysis shows that the pathogenetic mechanism of the R99H-ARF1 variant involves constitutive activation with resultant Golgi and endosomal alterations.
23 Mar 2023	Intellectual disability - microarray and sequencing v5.4	ARF1	Achchuthan Shanmugasundram Publications for gene: ARF1 were set to 28868155; 34353862
23 Mar 2023	Intellectual disability - microarray and sequencing v5.3	FEM1C	Achchuthan Shanmugasundram Publications for gene: FEM1C were set to 36336956
23 Mar 2023	Intellectual disability - microarray and sequencing v5.2	FEM1C	Achchuthan Shanmugasundram edited their review of gene: FEM1C: Changed publications to: 28135719, 36336956
23 Mar 2023	Intellectual disability - microarray and sequencing v5.2	FEM1C	Achchuthan Shanmugasundram gene: FEM1C was added gene: FEM1C was added to Intellectual disability - microarray and sequencing. Sources: Literature Mode of inheritance for gene: FEM1C was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: FEM1C were set to 36336956 Phenotypes for gene: FEM1C were set to Intellectual disability, MONDO:0001071 Review for gene: FEM1C was set to RED Added comment: This gene should be rated RED as there is only one clear case of intellectual disability reported in literature. PMID:36336956 reported a 9 year-old boy with severe global developmental delay, lack of speech, pyramidal signs and limb ataxia and identified with a heterozygous de novo missense variant c.376G>C (p.Asp126His) in the FEM1C gene. Cognitive assessment performed at 9 years of age showed that he has moderate intellectual disability. De novo variant in the same residue (p.Asp126Val) has also been associated with an uncharacterised developmental disorder in PMID:28135719. This gene has not yet been associated with relevant phenotypes in OMIM or in Gene2Phenotype. Sources: Literature
22 Mar 2023	Intellectual disability - microarray and sequencing v5.1		Arina Puzriakova Panel version 5.0 has been signed off on 2023-03-22
22 Mar 2023	Intellectual disability - microarray and sequencing v5.0		Arina Puzriakova promoted panel to version 5.0
22 Mar 2023	Intellectual disability - microarray and sequencing v4.127	HIST1H4E	Eleanor Williams commented on gene: HIST1H4E
22 Mar 2023	Intellectual disability - microarray and sequencing v4.126		Arina Puzriakova Panel name changed from Intellectual disability to Intellectual disability - microarray and sequencing List of related panels changed from Coarse facial features including Coffin-Siris-like disorders; ID; Moderate; severe or profound intellectual disability; Schizophrenia plus additional features; Intellectual disability - microarray; fragile X and sequencing; R29 to Coarse facial features including Coffin-Siris-like disorders; ID; Moderate; severe or profound intellectual disability; Schizophrenia plus additional features; Intellectual disability - microarray; fragile X and sequencing; Intellectual disability; R29
14 Mar 2023	Intellectual disability - microarray and sequencing v4.125	ATP9A	Eleanor Williams Tag gene-checked was removed from gene: ATP9A.
14 Mar 2023	Intellectual disability - microarray and sequencing v4.125	ATP9A	Eleanor Williams Added comment: Comment on phenotypes: Adding the OMIM phenotype which was added to OMIM in Feb 2023.
14 Mar 2023	Intellectual disability - microarray and sequencing v4.125	ATP9A	Eleanor Williams Phenotypes for gene: ATP9A were changed from Global developmental delay; Intellectual disability; Postnatal microcephaly; Failure to thrive; Abnormality of the abdomen to Global developmental delay; Intellectual disability; Postnatal microcephaly; Failure to thrive; Abnormality of the abdomen; Neurodevelopmental disorder with poor growth and behavioral abnormalities, OMIM:620242
14 Mar 2023	Intellectual disability - microarray and sequencing v4.124	TAB2	Achchuthan Shanmugasundram Publications for gene: TAB2 were set to 35971781
14 Mar 2023	Intellectual disability - microarray and sequencing v4.124	TAB2	Achchuthan Shanmugasundram Publications for gene: TAB2 were set to 35971781
14 Mar 2023	Intellectual disability - microarray and sequencing v4.123	TAB2	Achchuthan Shanmugasundram Publications for gene: TAB2 were set to 35971781
14 Mar 2023	Intellectual disability - microarray and sequencing v4.123	TAB2	Achchuthan Shanmugasundram Publications for gene: TAB2 were set to
14 Mar 2023	Intellectual disability - microarray and sequencing v4.122	TAB2	Achchuthan Shanmugasundram Deleted their comment
14 Mar 2023	Intellectual disability - microarray and sequencing v4.122	TAB2	Achchuthan Shanmugasundram Deleted their comment
14 Mar 2023	Intellectual disability - microarray and sequencing v4.122	TAB2	Achchuthan Shanmugasundram Classified gene: TAB2 as Amber List (moderate evidence)
14 Mar 2023	Intellectual disability - microarray and sequencing v4.122	TAB2	Achchuthan Shanmugasundram Added comment: Comment on list classification: This gene should be rated AMBER. Although there are four unrelated cases reported with ID, ID is part of a broad spectrum of phenotypes and the majority of cases in PMID:35971781 and other previous studies were not reported with ID as part of the phenotype. ID has not been reported as part of the phenotype either in OMIM or in Gene2Phenotype.
14 Mar 2023	Intellectual disability - microarray and sequencing v4.122	TAB2	Achchuthan Shanmugasundram Gene: tab2 has been classified as Amber List (Moderate Evidence).
14 Mar 2023	Intellectual disability - microarray and sequencing v4.122	TAB2	Achchuthan Shanmugasundram Classified gene: TAB2 as Amber List (moderate evidence)
14 Mar 2023	Intellectual disability - microarray and sequencing v4.122	TAB2	Achchuthan Shanmugasundram Added comment: Comment on list classification: This gene should be rated AMBER. Although there are four unrelated cases reported with ID, ID is part of a broad spectrum of phenotypes and the majority of cases in PMID:35971781 and other previous studies were not reported with ID as part of the phenotype. ID has not been reported as part of the phenotype either in OMIM or in Gene2Phenotype.
14 Mar 2023	Intellectual disability - microarray and sequencing v4.122	TAB2	Achchuthan Shanmugasundram Gene: tab2 has been classified as Amber List (Moderate Evidence).
14 Mar 2023	Intellectual disability - microarray and sequencing v4.121	TAB2	Achchuthan Shanmugasundram Deleted their comment
14 Mar 2023	Intellectual disability - microarray and sequencing v4.121	TAB2	Achchuthan Shanmugasundram Classified gene: TAB2 as Amber List (moderate evidence)
14 Mar 2023	Intellectual disability - microarray and sequencing v4.121	TAB2	Achchuthan Shanmugasundram Added comment: Comment on list classification: This gene should be rated AMBER. Although there are four unrelated cases reported with ID, ID is part of a broad spectrum of phenotypes and the majority of cases in PMID:35971781 and other previous studies were not reported with ID as part of the phenotype. ID has not been reported as part of the phenotype either in OMIM or in Gene2Phenotype.
14 Mar 2023	Intellectual disability - microarray and sequencing v4.121	TAB2	Achchuthan Shanmugasundram Gene: tab2 has been classified as Amber List (Moderate Evidence).
14 Mar 2023	Intellectual disability - microarray and sequencing v4.121	TAB2	Achchuthan Shanmugasundram Classified gene: TAB2 as Amber List (moderate evidence)
14 Mar 2023	Intellectual disability - microarray and sequencing v4.121	TAB2	Achchuthan Shanmugasundram Added comment: Comment on list classification: This gene should be rated AMBER. Although there are four unrelated cases reported with ID, ID is part of a broad spectrum of phenotypes and the majority of cases in PMID:35971781 and other previous studies were not reported with ID as part of the phenotype. ID has not been reported as part of the phenotype either in OMIM or in Gene2Phenotype.
14 Mar 2023	Intellectual disability - microarray and sequencing v4.121	TAB2	Achchuthan Shanmugasundram Gene: tab2 has been classified as Amber List (Moderate Evidence).
14 Mar 2023	Intellectual disability - microarray and sequencing v4.120	TAB2	Achchuthan Shanmugasundram changed review comment from: 4 out of 14 patients identified with heterozygous variants in TAB2 gene in PMID:35971781 were reported with global developmental delay and intellectual disability (ID). Two other patients were reported with motor delay. Although developmental delay was reported in previous studies including the one reviewed by Andrea Haworth below, none of the previous studies reported cases with ID. Although there are four unrelated cases reported with ID, ID is part of a broad spectrum of phenotypes and a majority of cases in this study and other previous studies did not report ID as part of the phenotype. ID has not been reported as part of the phenotype either in OMIM or in Gene2Phenotype.; to: 4 out of 14 patients identified with heterozygous variants in TAB2 gene in PMID:35971781 were reported with global developmental delay and intellectual disability (ID). Two other patients were reported with motor delay. Although developmental delay was reported in previous studies including the one reviewed by Andrea Haworth below, none of the previous studies reported cases with ID.
14 Mar 2023	Intellectual disability - microarray and sequencing v4.120	TAB2	Achchuthan Shanmugasundram reviewed gene: TAB2: Rating: AMBER; Mode of pathogenicity: None; Publications: 35971781; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
14 Mar 2023	Intellectual disability - microarray and sequencing v4.120	SUPT16H	Achchuthan Shanmugasundram Publications for gene: SUPT16H were set to 31924697; 36226587; 36255738
14 Mar 2023	Intellectual disability - microarray and sequencing v4.120	SUPT16H	Achchuthan Shanmugasundram Publications for gene: SUPT16H were set to 31924697; 36226587; 36255738
14 Mar 2023	Intellectual disability - microarray and sequencing v4.119	SUPT16H	Achchuthan Shanmugasundram Publications for gene: SUPT16H were set to 31924697; 36226587; 36255738
14 Mar 2023	Intellectual disability - microarray and sequencing v4.120	SUPT16H	Achchuthan Shanmugasundram Publications for gene: SUPT16H were set to 31924697; 36226587; 36255738
14 Mar 2023	Intellectual disability - microarray and sequencing v4.119	SUPT16H	Achchuthan Shanmugasundram Publications for gene: SUPT16H were set to 31924697; 36226587; 36255738
14 Mar 2023	Intellectual disability - microarray and sequencing v4.119	SUPT16H	Achchuthan Shanmugasundram Publications for gene: SUPT16H were set to 31924697; 36226587; 36255738
14 Mar 2023	Intellectual disability - microarray and sequencing v4.119	SUPT16H	Achchuthan Shanmugasundram Publications for gene: SUPT16H were set to 31924697; 36226587; 36255738
14 Mar 2023	Intellectual disability - microarray and sequencing v4.119	SUPT16H	Achchuthan Shanmugasundram Publications for gene: SUPT16H were set to 31924697; 36226587
14 Mar 2023	Intellectual disability - microarray and sequencing v4.118	KPTN	Sarah Leigh Phenotypes for gene: KPTN were changed from MACROCEPHALY, NEURODEVELOPMENTAL DELAY, AND SEIZURES to Intellectual developmental disorder, autosomal recessive 41, OMIM:615637; macrocephaly-developmental delay syndrome, MONDO:0014289
14 Mar 2023	Intellectual disability - microarray and sequencing v4.117	TBX1	Arina Puzriakova reviewed gene: TBX1: Rating: ; Mode of pathogenicity: None; Publications: 14585638, 17273972, 30137364; Phenotypes: ; Mode of inheritance: None
13 Mar 2023	Intellectual disability - microarray and sequencing v4.117	GCSH	Achchuthan Shanmugasundram Deleted their comment
13 Mar 2023	Intellectual disability - microarray and sequencing v4.117	GCSH	Achchuthan Shanmugasundram Deleted their comment
13 Mar 2023	Intellectual disability - microarray and sequencing v4.117	GCSH	Achchuthan Shanmugasundram Deleted their comment
13 Mar 2023	Intellectual disability - microarray and sequencing v4.117	GCSH	Achchuthan Shanmugasundram Deleted their comment
13 Mar 2023	Intellectual disability - microarray and sequencing v4.117	GCSH	Achchuthan Shanmugasundram Deleted their comment
13 Mar 2023	Intellectual disability - microarray and sequencing v4.117	GCSH	Achchuthan Shanmugasundram Deleted their comment
13 Mar 2023	Intellectual disability - microarray and sequencing v4.117	GCSH	Achchuthan Shanmugasundram Deleted their comment
13 Mar 2023	Intellectual disability - microarray and sequencing v4.117	GCSH	Achchuthan Shanmugasundram Deleted their comment
13 Mar 2023	Intellectual disability - microarray and sequencing v4.117	GCSH	Achchuthan Shanmugasundram Deleted their comment
13 Mar 2023	Intellectual disability - microarray and sequencing v4.117	GCSH	Achchuthan Shanmugasundram Deleted their comment
13 Mar 2023	Intellectual disability - microarray and sequencing v4.117	GCSH	Achchuthan Shanmugasundram Tag Q1_23_promote_green tag was added to gene: GCSH.
13 Mar 2023	Intellectual disability - microarray and sequencing v4.117	GCSH	Achchuthan Shanmugasundram Classified gene: GCSH as Amber List (moderate evidence)
13 Mar 2023	Intellectual disability - microarray and sequencing v4.117	GCSH	Achchuthan Shanmugasundram Added comment: Comment on list classification: This gene has sufficient evidence (four unrelated cases) to be promoted to GREEN at the next NHS GMS review.
13 Mar 2023	Intellectual disability - microarray and sequencing v4.117	GCSH	Achchuthan Shanmugasundram Gene: gcsh has been classified as Amber List (Moderate Evidence).
13 Mar 2023	Intellectual disability - microarray and sequencing v4.118	GCSH	Achchuthan Shanmugasundram Classified gene: GCSH as Amber List (moderate evidence)
13 Mar 2023	Intellectual disability - microarray and sequencing v4.118	GCSH	Achchuthan Shanmugasundram Added comment: Comment on list classification: This gene has sufficient evidence (four unrelated cases) to be promoted to GREEN at the next NHS GMS review.
13 Mar 2023	Intellectual disability - microarray and sequencing v4.118	GCSH	Achchuthan Shanmugasundram Gene: gcsh has been classified as Amber List (Moderate Evidence).
13 Mar 2023	Intellectual disability - microarray and sequencing v4.118	GCSH	Achchuthan Shanmugasundram Classified gene: GCSH as Amber List (moderate evidence)
13 Mar 2023	Intellectual disability - microarray and sequencing v4.118	GCSH	Achchuthan Shanmugasundram Added comment: Comment on list classification: This gene has sufficient evidence (four unrelated cases) to be promoted to GREEN at the next NHS GMS review.
13 Mar 2023	Intellectual disability - microarray and sequencing v4.118	GCSH	Achchuthan Shanmugasundram Gene: gcsh has been classified as Amber List (Moderate Evidence).
13 Mar 2023	Intellectual disability - microarray and sequencing v4.118	GCSH	Achchuthan Shanmugasundram Classified gene: GCSH as Amber List (moderate evidence)
13 Mar 2023	Intellectual disability - microarray and sequencing v4.118	GCSH	Achchuthan Shanmugasundram Added comment: Comment on list classification: This gene has sufficient evidence (four unrelated cases) to be promoted to GREEN at the next NHS GMS review.
13 Mar 2023	Intellectual disability - microarray and sequencing v4.118	GCSH	Achchuthan Shanmugasundram Gene: gcsh has been classified as Amber List (Moderate Evidence).
13 Mar 2023	Intellectual disability - microarray and sequencing v4.117	GCSH	Achchuthan Shanmugasundram Classified gene: GCSH as Amber List (moderate evidence)
13 Mar 2023	Intellectual disability - microarray and sequencing v4.117	GCSH	Achchuthan Shanmugasundram Added comment: Comment on list classification: This gene has sufficient evidence (four unrelated cases) to be promoted to GREEN at the next NHS GMS review.
13 Mar 2023	Intellectual disability - microarray and sequencing v4.117	GCSH	Achchuthan Shanmugasundram Gene: gcsh has been classified as Amber List (Moderate Evidence).
13 Mar 2023	Intellectual disability - microarray and sequencing v4.117	GCSH	Achchuthan Shanmugasundram Classified gene: GCSH as Amber List (moderate evidence)
13 Mar 2023	Intellectual disability - microarray and sequencing v4.117	GCSH	Achchuthan Shanmugasundram Added comment: Comment on list classification: This gene has sufficient evidence (four unrelated cases) to be promoted to GREEN at the next NHS GMS review.
13 Mar 2023	Intellectual disability - microarray and sequencing v4.117	GCSH	Achchuthan Shanmugasundram Gene: gcsh has been classified as Amber List (Moderate Evidence).
13 Mar 2023	Intellectual disability - microarray and sequencing v4.118	GCSH	Achchuthan Shanmugasundram Classified gene: GCSH as Amber List (moderate evidence)
13 Mar 2023	Intellectual disability - microarray and sequencing v4.118	GCSH	Achchuthan Shanmugasundram Added comment: Comment on list classification: This gene has sufficient evidence (four unrelated cases) to be promoted to GREEN at the next NHS GMS review.
13 Mar 2023	Intellectual disability - microarray and sequencing v4.118	GCSH	Achchuthan Shanmugasundram Gene: gcsh has been classified as Amber List (Moderate Evidence).
13 Mar 2023	Intellectual disability - microarray and sequencing v4.117	GCSH	Achchuthan Shanmugasundram Classified gene: GCSH as Amber List (moderate evidence)
13 Mar 2023	Intellectual disability - microarray and sequencing v4.117	GCSH	Achchuthan Shanmugasundram Added comment: Comment on list classification: This gene has sufficient evidence (four unrelated cases) to be promoted to GREEN at the next NHS GMS review.
13 Mar 2023	Intellectual disability - microarray and sequencing v4.117	GCSH	Achchuthan Shanmugasundram Gene: gcsh has been classified as Amber List (Moderate Evidence).
13 Mar 2023	Intellectual disability - microarray and sequencing v4.117	GCSH	Achchuthan Shanmugasundram Classified gene: GCSH as Amber List (moderate evidence)
13 Mar 2023	Intellectual disability - microarray and sequencing v4.117	GCSH	Achchuthan Shanmugasundram Added comment: Comment on list classification: This gene has sufficient evidence (four unrelated cases) to be promoted to GREEN at the next NHS GMS review.
13 Mar 2023	Intellectual disability - microarray and sequencing v4.117	GCSH	Achchuthan Shanmugasundram Gene: gcsh has been classified as Amber List (Moderate Evidence).
13 Mar 2023	Intellectual disability - microarray and sequencing v4.117	GCSH	Achchuthan Shanmugasundram Classified gene: GCSH as Amber List (moderate evidence)
13 Mar 2023	Intellectual disability - microarray and sequencing v4.117	GCSH	Achchuthan Shanmugasundram Added comment: Comment on list classification: This gene has sufficient evidence (four unrelated cases) to be promoted to GREEN at the next NHS GMS review.
13 Mar 2023	Intellectual disability - microarray and sequencing v4.117	GCSH	Achchuthan Shanmugasundram Gene: gcsh has been classified as Amber List (Moderate Evidence).
13 Mar 2023	Intellectual disability - microarray and sequencing v4.117	GCSH	Achchuthan Shanmugasundram Classified gene: GCSH as Amber List (moderate evidence)
13 Mar 2023	Intellectual disability - microarray and sequencing v4.117	GCSH	Achchuthan Shanmugasundram Added comment: Comment on list classification: This gene has sufficient evidence (four unrelated cases) to be promoted to GREEN at the next NHS GMS review.
13 Mar 2023	Intellectual disability - microarray and sequencing v4.117	GCSH	Achchuthan Shanmugasundram Gene: gcsh has been classified as Amber List (Moderate Evidence).
13 Mar 2023	Intellectual disability - microarray and sequencing v4.116	GCSH	Achchuthan Shanmugasundram Phenotypes for gene: GCSH were changed from ?Glycine encephalopathy, OMIM:605899; Neurodevelopmental disorder, MONDO:0700092 to ?Glycine encephalopathy, OMIM:605899; Neurodevelopmental disorder, MONDO:0700092
13 Mar 2023	Intellectual disability - microarray and sequencing v4.116	GCSH	Achchuthan Shanmugasundram Phenotypes for gene: GCSH were changed from ?Glycine encephalopathy, OMIM:605899; Neurodevelopmental disorder, MONDO:0700092 to ?Glycine encephalopathy, OMIM:605899; Neurodevelopmental disorder, MONDO:0700092
13 Mar 2023	Intellectual disability - microarray and sequencing v4.116	GCSH	Achchuthan Shanmugasundram Phenotypes for gene: GCSH were changed from ?Glycine encephalopathy, OMIM:605899; Neurodevelopmental disorder, MONDO:0700092 to ?Glycine encephalopathy, OMIM:605899; Neurodevelopmental disorder, MONDO:0700092
13 Mar 2023	Intellectual disability - microarray and sequencing v4.116	GCSH	Achchuthan Shanmugasundram Phenotypes for gene: GCSH were changed from ?Glycine encephalopathy, OMIM:605899; Neurodevelopmental disorder, MONDO:0700092 to ?Glycine encephalopathy, OMIM:605899; Neurodevelopmental disorder, MONDO:0700092
13 Mar 2023	Intellectual disability - microarray and sequencing v4.116	GCSH	Achchuthan Shanmugasundram Phenotypes for gene: GCSH were changed from ?Glycine encephalopathy, OMIM:605899; Neurodevelopmental disorder, MONDO:0700092 to ?Glycine encephalopathy, OMIM:605899; Neurodevelopmental disorder, MONDO:0700092
13 Mar 2023	Intellectual disability - microarray and sequencing v4.117	GCSH	Achchuthan Shanmugasundram Phenotypes for gene: GCSH were changed from ?Glycine encephalopathy, OMIM:605899; Neurodevelopmental disorder, MONDO:0700092 to ?Glycine encephalopathy, OMIM:605899; Neurodevelopmental disorder, MONDO:0700092
13 Mar 2023	Intellectual disability - microarray and sequencing v4.115	GCSH	Achchuthan Shanmugasundram Publications for gene: GCSH were set to 36190515
13 Mar 2023	Intellectual disability - microarray and sequencing v4.116	GCSH	Achchuthan Shanmugasundram Phenotypes for gene: GCSH were changed from ?Glycine encephalopathy, OMIM:605899; Neurodevelopmental disorder, MONDO:0700092 to ?Glycine encephalopathy, OMIM:605899; Neurodevelopmental disorder, MONDO:0700092
13 Mar 2023	Intellectual disability - microarray and sequencing v4.116	GCSH	Achchuthan Shanmugasundram Phenotypes for gene: GCSH were changed from ?Glycine encephalopathy, OMIM:605899; Neurodevelopmental disorder, MONDO:0700092 to ?Glycine encephalopathy, OMIM:605899; Neurodevelopmental disorder, MONDO:0700092
13 Mar 2023	Intellectual disability - microarray and sequencing v4.116	GCSH	Achchuthan Shanmugasundram Phenotypes for gene: GCSH were changed from ?Glycine encephalopathy, OMIM:605899; Neurodevelopmental disorder, MONDO:0700092 to ?Glycine encephalopathy, OMIM:605899; Neurodevelopmental disorder, MONDO:0700092
13 Mar 2023	Intellectual disability - microarray and sequencing v4.115	GCSH	Achchuthan Shanmugasundram Publications for gene: GCSH were set to 36190515
13 Mar 2023	Intellectual disability - microarray and sequencing v4.115	GCSH	Achchuthan Shanmugasundram Publications for gene: GCSH were set to 36190515
13 Mar 2023	Intellectual disability - microarray and sequencing v4.116	GCSH	Achchuthan Shanmugasundram Phenotypes for gene: GCSH were changed from Glycine encephalopathy to ?Glycine encephalopathy, OMIM:605899; Neurodevelopmental disorder, MONDO:0700092
13 Mar 2023	Intellectual disability - microarray and sequencing v4.115	GCSH	Achchuthan Shanmugasundram Publications for gene: GCSH were set to 36190515
13 Mar 2023	Intellectual disability - microarray and sequencing v4.115	GCSH	Achchuthan Shanmugasundram Publications for gene: GCSH were set to 36190515
13 Mar 2023	Intellectual disability - microarray and sequencing v4.115	GCSH	Achchuthan Shanmugasundram Publications for gene: GCSH were set to 36190515
13 Mar 2023	Intellectual disability - microarray and sequencing v4.115	GCSH	Achchuthan Shanmugasundram Publications for gene: GCSH were set to 36190515
13 Mar 2023	Intellectual disability - microarray and sequencing v4.115	GCSH	Achchuthan Shanmugasundram Publications for gene: GCSH were set to
13 Mar 2023	Intellectual disability - microarray and sequencing v4.114	GCSH	Achchuthan Shanmugasundram reviewed gene: GCSH: Rating: GREEN; Mode of pathogenicity: None; Publications: 36190515; Phenotypes: ?Glycine encephalopathy, OMIM:605899, Neurodevelopmental disorder, MONDO:0700092; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
13 Mar 2023	Intellectual disability - microarray and sequencing v4.114	SUPT16H	Achchuthan Shanmugasundram Publications for gene: SUPT16H were set to 31924697; 36226587
13 Mar 2023	Intellectual disability - microarray and sequencing v4.113	SUPT16H	Achchuthan Shanmugasundram Publications for gene: SUPT16H were set to 31924697; 36226587
13 Mar 2023	Intellectual disability - microarray and sequencing v4.114	SUPT16H	Achchuthan Shanmugasundram Publications for gene: SUPT16H were set to 31924697; 36226587
13 Mar 2023	Intellectual disability - microarray and sequencing v4.114	SUPT16H	Achchuthan Shanmugasundram Publications for gene: SUPT16H were set to 31924697; 36226587
13 Mar 2023	Intellectual disability - microarray and sequencing v4.114	SUPT16H	Achchuthan Shanmugasundram Publications for gene: SUPT16H were set to 31924697; 36226587
13 Mar 2023	Intellectual disability - microarray and sequencing v4.114	SUPT16H	Achchuthan Shanmugasundram Publications for gene: SUPT16H were set to 31924697; 36226587
13 Mar 2023	Intellectual disability - microarray and sequencing v4.113	SUPT16H	Achchuthan Shanmugasundram Publications for gene: SUPT16H were set to 31924697; 36226587
13 Mar 2023	Intellectual disability - microarray and sequencing v4.112	SUPT16H	Achchuthan Shanmugasundram Phenotypes for gene: SUPT16H were changed from Neurodevelopmental disorder with dysmorphic facies and thin corpus callosum, OMIM:619480; Global developmental delay; Intellectual disability; Abnormality of the corpus callosum to Neurodevelopmental disorder with dysmorphic facies and thin corpus callosum, OMIM:619480; Global developmental delay; Intellectual disability; Abnormality of the corpus callosum
13 Mar 2023	Intellectual disability - microarray and sequencing v4.113	SUPT16H	Achchuthan Shanmugasundram Publications for gene: SUPT16H were set to 31924697
13 Mar 2023	Intellectual disability - microarray and sequencing v4.112	SUPT16H	Achchuthan Shanmugasundram Phenotypes for gene: SUPT16H were changed from Neurodevelopmental disorder with dysmorphic facies and thin corpus callosum, OMIM:619480; Global developmental delay; Intellectual disability; Abnormality of the corpus callosum to Neurodevelopmental disorder with dysmorphic facies and thin corpus callosum, OMIM:619480; Global developmental delay; Intellectual disability; Abnormality of the corpus callosum
13 Mar 2023	Intellectual disability - microarray and sequencing v4.112	SUPT16H	Achchuthan Shanmugasundram Phenotypes for gene: SUPT16H were changed from Neurodevelopmental disorder with dysmorphic facies and thin corpus callosum, OMIM:619480; Global developmental delay; Intellectual disability; Abnormality of the corpus callosum to Neurodevelopmental disorder with dysmorphic facies and thin corpus callosum, OMIM:619480; Global developmental delay; Intellectual disability; Abnormality of the corpus callosum
13 Mar 2023	Intellectual disability - microarray and sequencing v4.111	SUPT16H	Achchuthan Shanmugasundram Phenotypes for gene: SUPT16H were changed from Neurodevelopmental disorder with dysmorphic facies and thin corpus callosum, OMIM:619480; Global developmental delay; Intellectual disability; Abnormality of the corpus callosum to Neurodevelopmental disorder with dysmorphic facies and thin corpus callosum, OMIM:619480; Global developmental delay; Intellectual disability; Abnormality of the corpus callosum
13 Mar 2023	Intellectual disability - microarray and sequencing v4.111	SUPT16H	Achchuthan Shanmugasundram Phenotypes for gene: SUPT16H were changed from Neurodevelopmental disorder with dysmorphic facies and thin corpus callosum, OMIM:619480; Global developmental delay; Intellectual disability; Abnormality of the corpus callosum to Neurodevelopmental disorder with dysmorphic facies and thin corpus callosum, OMIM:619480; Global developmental delay; Intellectual disability; Abnormality of the corpus callosum
13 Mar 2023	Intellectual disability - microarray and sequencing v4.111	SUPT16H	Achchuthan Shanmugasundram Phenotypes for gene: SUPT16H were changed from Neurodevelopmental disorder with dysmorphic facies and thin corpus callosum, OMIM:619480; Global developmental delay; Intellectual disability; Abnormality of the corpus callosum to Neurodevelopmental disorder with dysmorphic facies and thin corpus callosum, OMIM:619480; Global developmental delay; Intellectual disability; Abnormality of the corpus callosum
13 Mar 2023	Intellectual disability - microarray and sequencing v4.111	SUPT16H	Achchuthan Shanmugasundram Phenotypes for gene: SUPT16H were changed from Global developmental delay; Intellectual disability; Abnormality of the corpus callosum to Neurodevelopmental disorder with dysmorphic facies and thin corpus callosum, OMIM:619480; Global developmental delay; Intellectual disability; Abnormality of the corpus callosum
08 Mar 2023	Intellectual disability - microarray and sequencing v4.110	YWHAZ	Achchuthan Shanmugasundram gene: YWHAZ was added gene: YWHAZ was added to Intellectual disability. Sources: Literature Mode of inheritance for gene: YWHAZ was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: YWHAZ were set to 36001342 Phenotypes for gene: YWHAZ were set to Intellectual disability, MONDO:0001071 Review for gene: YWHAZ was set to RED Added comment: PMID:36001342 reported one large three-generation family with intellectual disability and global developmental delay, where all affected members were identified with a heterozygous missense variant (c.147A>T/ p.Lys49Asn) in YWHAZ gene. Although there were 10 other rare variants located in 10 genes (ARHGAP4, AGPS, APOL3, CES3, DACT2, ECH1, FAM71E2, KREMEN1, YWHAZ, ZFYVE26) that co-segregated with the ID/GDD phenotype were identified in the family, they were either not present in all affected members or present in unaffected members. In addition, computational modeling and knockdown/ knockin studies with Drosophila also confirmed the role of this YWHAZ variant in intellectual disability. Sources: Literature
08 Mar 2023	Intellectual disability - microarray and sequencing v4.109	DEAF1	Achchuthan Shanmugasundram Phenotypes for gene: DEAF1 were changed from ?Dyskinesia, seizures, and intellectual developmental disorder, 617171; Mental retardation, autosomal dominant 24, 615828 to ?Dyskinesia, seizures, and intellectual developmental disorder, 617171; Mental retardation, autosomal dominant 24, 615828
08 Mar 2023	Intellectual disability - microarray and sequencing v4.110	DEAF1	Achchuthan Shanmugasundram Phenotypes for gene: DEAF1 were changed from ?Dyskinesia, seizures, and intellectual developmental disorder, 617171; Mental retardation, autosomal dominant 24, 615828 to ?Dyskinesia, seizures, and intellectual developmental disorder, 617171; Mental retardation, autosomal dominant 24, 615828
08 Mar 2023	Intellectual disability - microarray and sequencing v4.110	DEAF1	Achchuthan Shanmugasundram Phenotypes for gene: DEAF1 were changed from ?Dyskinesia, seizures, and intellectual developmental disorder, 617171; Mental retardation, autosomal dominant 24, 615828 to ?Dyskinesia, seizures, and intellectual developmental disorder, 617171; Mental retardation, autosomal dominant 24, 615828
08 Mar 2023	Intellectual disability - microarray and sequencing v4.109	DEAF1	Achchuthan Shanmugasundram Phenotypes for gene: DEAF1 were changed from ?Dyskinesia, seizures, and intellectual developmental disorder, 617171; Mental retardation, autosomal dominant 24, 615828 to ?Dyskinesia, seizures, and intellectual developmental disorder, 617171; Mental retardation, autosomal dominant 24, 615828
08 Mar 2023	Intellectual disability - microarray and sequencing v4.109	DEAF1	Achchuthan Shanmugasundram Phenotypes for gene: DEAF1 were changed from ?Dyskinesia, seizures, and intellectual developmental disorder, 617171; Mental retardation, autosomal dominant 24, 615828 to ?Dyskinesia, seizures, and intellectual developmental disorder, 617171; Mental retardation, autosomal dominant 24, 615828
08 Mar 2023	Intellectual disability - microarray and sequencing v4.109	DEAF1	Achchuthan Shanmugasundram Phenotypes for gene: DEAF1 were changed from ?Dyskinesia, seizures, and intellectual developmental disorder, 617171; Mental retardation, autosomal dominant 24, 615828 to ?Dyskinesia, seizures, and intellectual developmental disorder, 617171; Mental retardation, autosomal dominant 24, 615828
08 Mar 2023	Intellectual disability - microarray and sequencing v4.108	DEAF1	Achchuthan Shanmugasundram Publications for gene: DEAF1 were set to 21076407; 35981081
08 Mar 2023	Intellectual disability - microarray and sequencing v4.109	DEAF1	Achchuthan Shanmugasundram Phenotypes for gene: DEAF1 were changed from MENTAL RETARDATION, AUTOSOMAL DOMINANT 24; ?Dyskinesia, seizures, and intellectual developmental disorder, 617171; Mental retardation, autosomal dominant 24, 615828 to ?Dyskinesia, seizures, and intellectual developmental disorder, 617171; Mental retardation, autosomal dominant 24, 615828
08 Mar 2023	Intellectual disability - microarray and sequencing v4.108	DEAF1	Achchuthan Shanmugasundram Publications for gene: DEAF1 were set to 21076407; 35981081
08 Mar 2023	Intellectual disability - microarray and sequencing v4.108	DEAF1	Achchuthan Shanmugasundram Publications for gene: DEAF1 were set to 21076407; 35981081
08 Mar 2023	Intellectual disability - microarray and sequencing v4.107	DEAF1	Achchuthan Shanmugasundram Publications for gene: DEAF1 were set to 21076407; 35981081
08 Mar 2023	Intellectual disability - microarray and sequencing v4.107	DEAF1	Achchuthan Shanmugasundram Publications for gene: DEAF1 were set to 21076407
07 Mar 2023	Intellectual disability - microarray and sequencing v4.106	SARS	Arina Puzriakova Classified gene: SARS as Amber List (moderate evidence)
07 Mar 2023	Intellectual disability - microarray and sequencing v4.106	SARS	Arina Puzriakova Added comment: Comment on list classification: There is sufficient evidence to promote this gene to Green at the next GMS panel update. At least three unrelated cases with biallelic variants in this gene - DD/ID detected in all families.
07 Mar 2023	Intellectual disability - microarray and sequencing v4.106	SARS	Arina Puzriakova Gene: sars has been classified as Amber List (Moderate Evidence).
07 Mar 2023	Intellectual disability - microarray and sequencing v4.105	SARS	Arina Puzriakova Phenotypes for gene: SARS were changed from ?Neurodevelopmental disorder with microcephaly, ataxia, and seizures, OMIM:617709 to Neurodevelopmental disorder with microcephaly, ataxia, and seizures, OMIM:617709
07 Mar 2023	Intellectual disability - microarray and sequencing v4.104	SARS	Arina Puzriakova Publications for gene: SARS were set to 28236339; 34570399
07 Mar 2023	Intellectual disability - microarray and sequencing v4.103	SARS	Arina Puzriakova Tag watchlist was removed from gene: SARS. Tag Q1_23_promote_green tag was added to gene: SARS.
07 Mar 2023	Intellectual disability - microarray and sequencing v4.103	SARS	Arina Puzriakova reviewed gene: SARS: Rating: GREEN; Mode of pathogenicity: None; Publications: 35790048; Phenotypes: Neurodevelopmental disorder with microcephaly, ataxia, and seizures, OMIM:617709; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
03 Mar 2023	Intellectual disability - microarray and sequencing v4.103	CTR9	Achchuthan Shanmugasundram Deleted their comment
03 Mar 2023	Intellectual disability - microarray and sequencing v4.103	CTR9	Achchuthan Shanmugasundram Classified gene: CTR9 as Amber List (moderate evidence)
03 Mar 2023	Intellectual disability - microarray and sequencing v4.103	CTR9	Achchuthan Shanmugasundram Added comment: Comment on list classification: This gene should be rated GREEN as there are sufficient unrelated cases (at least 10) reported with varying degrees (mild to severe) intellectual disability.
03 Mar 2023	Intellectual disability - microarray and sequencing v4.103	CTR9	Achchuthan Shanmugasundram Gene: ctr9 has been classified as Amber List (Moderate Evidence).
03 Mar 2023	Intellectual disability - microarray and sequencing v4.102	CTR9	Achchuthan Shanmugasundram Deleted their comment
03 Mar 2023	Intellectual disability - microarray and sequencing v4.102	CTR9	Achchuthan Shanmugasundram Deleted their comment
03 Mar 2023	Intellectual disability - microarray and sequencing v4.102	CTR9	Achchuthan Shanmugasundram Classified gene: CTR9 as Amber List (moderate evidence)
03 Mar 2023	Intellectual disability - microarray and sequencing v4.102	CTR9	Achchuthan Shanmugasundram Added comment: Comment on list classification: This gene should be rated GREEN as there are sufficient unrelated cases (at least 10) reported with varying degrees (mild to severe) intellectual disability.
03 Mar 2023	Intellectual disability - microarray and sequencing v4.102	CTR9	Achchuthan Shanmugasundram Gene: ctr9 has been classified as Amber List (Moderate Evidence).
03 Mar 2023	Intellectual disability - microarray and sequencing v4.103	CTR9	Achchuthan Shanmugasundram Deleted their comment
03 Mar 2023	Intellectual disability - microarray and sequencing v4.103	CTR9	Achchuthan Shanmugasundram Deleted their comment
03 Mar 2023	Intellectual disability - microarray and sequencing v4.103	CTR9	Achchuthan Shanmugasundram Classified gene: CTR9 as Amber List (moderate evidence)
03 Mar 2023	Intellectual disability - microarray and sequencing v4.103	CTR9	Achchuthan Shanmugasundram Added comment: Comment on list classification: This gene should be rated GREEN as there are sufficient unrelated cases (at least 10) reported with varying degrees (mild to severe) intellectual disability.
03 Mar 2023	Intellectual disability - microarray and sequencing v4.103	CTR9	Achchuthan Shanmugasundram Gene: ctr9 has been classified as Amber List (Moderate Evidence).
03 Mar 2023	Intellectual disability - microarray and sequencing v4.103	CTR9	Achchuthan Shanmugasundram Tag Q1_23_promote_green tag was added to gene: CTR9.
03 Mar 2023	Intellectual disability - microarray and sequencing v4.103	CTR9	Achchuthan Shanmugasundram Classified gene: CTR9 as Amber List (moderate evidence)
03 Mar 2023	Intellectual disability - microarray and sequencing v4.103	CTR9	Achchuthan Shanmugasundram Added comment: Comment on list classification: This gene should be rated GREEN as there are sufficient unrelated cases (at least 10) reported with varying degrees (mild to severe) intellectual disability.
03 Mar 2023	Intellectual disability - microarray and sequencing v4.103	CTR9	Achchuthan Shanmugasundram Gene: ctr9 has been classified as Amber List (Moderate Evidence).
03 Mar 2023	Intellectual disability - microarray and sequencing v4.102	CTR9	Achchuthan Shanmugasundram Classified gene: CTR9 as Amber List (moderate evidence)
03 Mar 2023	Intellectual disability - microarray and sequencing v4.102	CTR9	Achchuthan Shanmugasundram Added comment: Comment on list classification: This gene should be rated GREEN as there are sufficient unrelated cases (at least 10) reported with varying degrees (mild to severe) intellectual disability.
03 Mar 2023	Intellectual disability - microarray and sequencing v4.102	CTR9	Achchuthan Shanmugasundram Gene: ctr9 has been classified as Amber List (Moderate Evidence).
03 Mar 2023	Intellectual disability - microarray and sequencing v4.102	CTR9	Achchuthan Shanmugasundram Deleted their comment
03 Mar 2023	Intellectual disability - microarray and sequencing v4.102	CTR9	Achchuthan Shanmugasundram Classified gene: CTR9 as Amber List (moderate evidence)
03 Mar 2023	Intellectual disability - microarray and sequencing v4.102	CTR9	Achchuthan Shanmugasundram Added comment: Comment on list classification: This gene should be rated GREEN as there are sufficient unrelated cases (at least 10) reported with varying degrees (mild to severe) intellectual disability.
03 Mar 2023	Intellectual disability - microarray and sequencing v4.102	CTR9	Achchuthan Shanmugasundram Gene: ctr9 has been classified as Amber List (Moderate Evidence).
03 Mar 2023	Intellectual disability - microarray and sequencing v4.102	CTR9	Achchuthan Shanmugasundram Classified gene: CTR9 as Amber List (moderate evidence)
03 Mar 2023	Intellectual disability - microarray and sequencing v4.102	CTR9	Achchuthan Shanmugasundram Added comment: Comment on list classification: This gene should be rated GREEN as there are sufficient unrelated cases (at least 10) reported with varying degrees (mild to severe) intellectual disability.
03 Mar 2023	Intellectual disability - microarray and sequencing v4.102	CTR9	Achchuthan Shanmugasundram Gene: ctr9 has been classified as Amber List (Moderate Evidence).
03 Mar 2023	Intellectual disability - microarray and sequencing v4.101	CTR9	Achchuthan Shanmugasundram Publications for gene: CTR9 were set to 35499524; 35717577
03 Mar 2023	Intellectual disability - microarray and sequencing v4.100	CTR9	Achchuthan Shanmugasundram Publications for gene: CTR9 were set to 35499524; 35717577
03 Mar 2023	Intellectual disability - microarray and sequencing v4.101	CTR9	Achchuthan Shanmugasundram Publications for gene: CTR9 were set to 35499524; 35717577
03 Mar 2023	Intellectual disability - microarray and sequencing v4.102	CTR9	Achchuthan Shanmugasundram Phenotypes for gene: CTR9 were changed from Macrocephaly, HP:0000256; Motor delay, HP:0001270; intellectual disability, MONDO:0001071; Delayed speech and language development; Behavioral abnormality; Autistic behavior; Failure to thrive; Feeding difficulties; Abnormality of the cardiovascular system to Macrocephaly, HP:0000256; Motor delay, HP:0001270; intellectual disability, MONDO:0001071; Delayed speech and language development; Behavioral abnormality; Autistic behavior; Failure to thrive; Feeding difficulties; Abnormality of the cardiovascular system
03 Mar 2023	Intellectual disability - microarray and sequencing v4.103	CTR9	Achchuthan Shanmugasundram Phenotypes for gene: CTR9 were changed from Macrocephaly, HP:0000256; Motor delay, HP:0001270; intellectual disability, MONDO:0001071; Delayed speech and language development; Behavioral abnormality; Autistic behavior; Failure to thrive; Feeding difficulties; Abnormality of the cardiovascular system to Macrocephaly, HP:0000256; Motor delay, HP:0001270; intellectual disability, MONDO:0001071; Delayed speech and language development; Behavioral abnormality; Autistic behavior; Failure to thrive; Feeding difficulties; Abnormality of the cardiovascular system
03 Mar 2023	Intellectual disability - microarray and sequencing v4.100	CTR9	Achchuthan Shanmugasundram Publications for gene: CTR9 were set to 35499524; 35717577
03 Mar 2023	Intellectual disability - microarray and sequencing v4.101	CTR9	Achchuthan Shanmugasundram Publications for gene: CTR9 were set to 35499524; 35717577
03 Mar 2023	Intellectual disability - microarray and sequencing v4.101	CTR9	Achchuthan Shanmugasundram Publications for gene: CTR9 were set to 35499524; 35717577
03 Mar 2023	Intellectual disability - microarray and sequencing v4.102	CTR9	Achchuthan Shanmugasundram Phenotypes for gene: CTR9 were changed from Macrocephaly, HP:0000256; Motor delay, HP:0001270; intellectual disability, MONDO:0001071; Delayed speech and language development; Behavioral abnormality; Autistic behavior; Failure to thrive; Feeding difficulties; Abnormality of the cardiovascular system to Macrocephaly, HP:0000256; Motor delay, HP:0001270; intellectual disability, MONDO:0001071; Delayed speech and language development; Behavioral abnormality; Autistic behavior; Failure to thrive; Feeding difficulties; Abnormality of the cardiovascular system
03 Mar 2023	Intellectual disability - microarray and sequencing v4.102	CTR9	Achchuthan Shanmugasundram Phenotypes for gene: CTR9 were changed from Delayed speech and language development; Motor delay; Intellectual disability; Behavioral abnormality; Autistic behavior; Failure to thrive; Feeding difficulties; Abnormality of the cardiovascular system to Macrocephaly, HP:0000256; Motor delay, HP:0001270; intellectual disability, MONDO:0001071; Delayed speech and language development; Behavioral abnormality; Autistic behavior; Failure to thrive; Feeding difficulties; Abnormality of the cardiovascular system
03 Mar 2023	Intellectual disability - microarray and sequencing v4.99	CTR9	Achchuthan Shanmugasundram Publications for gene: CTR9 were set to 35499524; 35717577
03 Mar 2023	Intellectual disability - microarray and sequencing v4.100	CTR9	Achchuthan Shanmugasundram Publications for gene: CTR9 were set to 35499524; 35717577
03 Mar 2023	Intellectual disability - microarray and sequencing v4.99	CTR9	Achchuthan Shanmugasundram Publications for gene: CTR9 were set to 35499524; 35717577
03 Mar 2023	Intellectual disability - microarray and sequencing v4.101	CTR9	Achchuthan Shanmugasundram Publications for gene: CTR9 were set to 35499524; 35717577
03 Mar 2023	Intellectual disability - microarray and sequencing v4.100	CTR9	Achchuthan Shanmugasundram Publications for gene: CTR9 were set to 35499524; 35717577
03 Mar 2023	Intellectual disability - microarray and sequencing v4.98	CTR9	Achchuthan Shanmugasundram Mode of pathogenicity for gene: CTR9 was changed from None to None
03 Mar 2023	Intellectual disability - microarray and sequencing v4.100	CTR9	Achchuthan Shanmugasundram Publications for gene: CTR9 were set to 35499524; 2815719; 25363760; 27479843; 25099282; 29292210
03 Mar 2023	Intellectual disability - microarray and sequencing v4.98	CTR9	Achchuthan Shanmugasundram Mode of pathogenicity for gene: CTR9 was changed from None to None
03 Mar 2023	Intellectual disability - microarray and sequencing v4.99	CTR9	Achchuthan Shanmugasundram Mode of pathogenicity for gene: CTR9 was changed from None to None
03 Mar 2023	Intellectual disability - microarray and sequencing v4.99	CTR9	Achchuthan Shanmugasundram Mode of pathogenicity for gene: CTR9 was changed from None to None
03 Mar 2023	Intellectual disability - microarray and sequencing v4.98	CTR9	Achchuthan Shanmugasundram Mode of pathogenicity for gene: CTR9 was changed from None to None
03 Mar 2023	Intellectual disability - microarray and sequencing v4.98	CTR9	Achchuthan Shanmugasundram Mode of pathogenicity for gene: CTR9 was changed from None to None
03 Mar 2023	Intellectual disability - microarray and sequencing v4.98	CTR9	Achchuthan Shanmugasundram Mode of pathogenicity for gene: CTR9 was changed from None to None
03 Mar 2023	Intellectual disability - microarray and sequencing v4.98	CTR9	Achchuthan Shanmugasundram Mode of pathogenicity for gene: CTR9 was changed from None to None
03 Mar 2023	Intellectual disability - microarray and sequencing v4.99	CTR9	Achchuthan Shanmugasundram Mode of pathogenicity for gene: CTR9 was changed from None to None
03 Mar 2023	Intellectual disability - microarray and sequencing v4.98	CTR9	Achchuthan Shanmugasundram Mode of pathogenicity for gene: CTR9 was changed from None to None
03 Mar 2023	Intellectual disability - microarray and sequencing v4.98	CTR9	Achchuthan Shanmugasundram Mode of pathogenicity for gene: CTR9 was changed from None to None
03 Mar 2023	Intellectual disability - microarray and sequencing v4.97	CTR9	Achchuthan Shanmugasundram Mode of inheritance for gene: CTR9 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
03 Mar 2023	Intellectual disability - microarray and sequencing v4.98	CTR9	Achchuthan Shanmugasundram Mode of pathogenicity for gene: CTR9 was changed from None to None
03 Mar 2023	Intellectual disability - microarray and sequencing v4.98	CTR9	Achchuthan Shanmugasundram Mode of pathogenicity for gene: CTR9 was changed from Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments to None
03 Mar 2023	Intellectual disability - microarray and sequencing v4.97	CTR9	Achchuthan Shanmugasundram Mode of inheritance for gene: CTR9 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
03 Mar 2023	Intellectual disability - microarray and sequencing v4.97	CTR9	Achchuthan Shanmugasundram Mode of inheritance for gene: CTR9 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
03 Mar 2023	Intellectual disability - microarray and sequencing v4.97	CTR9	Achchuthan Shanmugasundram Mode of inheritance for gene: CTR9 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
03 Mar 2023	Intellectual disability - microarray and sequencing v4.96	CTR9	Achchuthan Shanmugasundram Deleted their comment
03 Mar 2023	Intellectual disability - microarray and sequencing v4.96	CTR9	Achchuthan Shanmugasundram edited their review of gene: CTR9: Added comment: As noted by the reviewer, PMID: 35499524 reported 13 unrelated cases identified with heterozygous variants in CTR9 gene (11 different variants) and they presented with overlapping neurodegenerative phenotypes including intellectual disability, hypotonia, joint hyperlaxity, speech delay, coordination problems, tremor, and autism spectrum disorder. Mild dysmorphism and cardiac anomalies were less frequent. The intellect levels were determined only for 11 patients (the rest are too young) and 8 out of these 11 patients were reported with variable degree of intellectual disability, while other three had impairments in other domains or learning difficulties. PMID:35717577 reported two additional unrelated cases with non-synonymous heterozygous CTR9 variants (p.Glu15Asp and p.Pro25Arg) and they presented with macrocephaly, motor delay, and intellectual disability. In addition, functional studies in zebrafish also showed that knockout/ over-expression of CTR9 variants caused motor defects and enlargement of telencephalon (homologous to the mammalian cerebrum). This gene has not yet been associated with relevant phenotypes in OMIM. It has been associated with Wilms tumour in Gene2Phenotype (phenotype not relevant to this panel).; Changed rating: GREEN; Changed publications to: 35499524, 35717577
03 Mar 2023	Intellectual disability - microarray and sequencing v4.96	CTR9	Achchuthan Shanmugasundram edited their review of gene: CTR9: Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
03 Mar 2023	Intellectual disability - microarray and sequencing v4.96	CTR9	Achchuthan Shanmugasundram edited their review of gene: CTR9: Changed phenotypes to: Macrocephaly, HP:0000256, Motor delay, HP:0001270, intellectual disability, MONDO:0001071
03 Mar 2023	Intellectual disability - microarray and sequencing v4.96	RBSN	Achchuthan Shanmugasundram changed review comment from: Comment on list classification: This gene should be rated GREEN as bi-allelic variants in RBSN has been associated with a phenotype encompassing developmental delay and intellectual disability from four unrelated families. This gene has not been associated with any phenotypes either in OMIM or in Gene2Phenotype.; to: Comment on list classification: This gene should be rated GREEN as bi-allelic variants in RBSN has been associated with a phenotype encompassing developmental delay and intellectual disability from four unrelated families. This gene has not yet been associated with any phenotypes either in OMIM or in Gene2Phenotype.
03 Mar 2023	Intellectual disability - microarray and sequencing v4.96	RBSN	Achchuthan Shanmugasundram Deleted their comment
03 Mar 2023	Intellectual disability - microarray and sequencing v4.96	RBSN	Achchuthan Shanmugasundram Tag Q1_23_promote_green tag was added to gene: RBSN.
03 Mar 2023	Intellectual disability - microarray and sequencing v4.96	RBSN	Achchuthan Shanmugasundram Classified gene: RBSN as Amber List (moderate evidence)
03 Mar 2023	Intellectual disability - microarray and sequencing v4.96	RBSN	Achchuthan Shanmugasundram Added comment: Comment on list classification: This gene should be rated GREEN as bi-allelic variants in RBSN has been associated with a phenotype encompassing developmental delay and intellectual disability from four unrelated families. This gene has not been associated with any phenotypes either in OMIM or in Gene2Phenotype.
03 Mar 2023	Intellectual disability - microarray and sequencing v4.96	RBSN	Achchuthan Shanmugasundram Gene: rbsn has been classified as Amber List (Moderate Evidence).
03 Mar 2023	Intellectual disability - microarray and sequencing v4.96	RBSN	Achchuthan Shanmugasundram Classified gene: RBSN as Amber List (moderate evidence)
03 Mar 2023	Intellectual disability - microarray and sequencing v4.96	RBSN	Achchuthan Shanmugasundram Added comment: Comment on list classification: This gene should be rated GREEN as bi-allelic variants in RBSN has been associated with a phenotype encompassing developmental delay and intellectual disability from four unrelated families. This gene has not been associated with any phenotypes either in OMIM or in Gene2Phenotype.
03 Mar 2023	Intellectual disability - microarray and sequencing v4.96	RBSN	Achchuthan Shanmugasundram Gene: rbsn has been classified as Amber List (Moderate Evidence).
03 Mar 2023	Intellectual disability - microarray and sequencing v4.95	RBSN	Achchuthan Shanmugasundram gene: RBSN was added gene: RBSN was added to Intellectual disability. Sources: Literature Mode of inheritance for gene: RBSN was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RBSN were set to 25233840; 29784638; 35652444 Phenotypes for gene: RBSN were set to intellectual disability, MONDO:0001071 Review for gene: RBSN was set to GREEN Added comment: PMID:25233840 reported a 6.5 year old female patient with a homozygous missense variant c.1273G > A (p.Gly425Arg) and her clinical presentation included intractable seizures, developmental delay, microcephaly, dysostosis, osteopenia, craniofacial dysmorphism, macrocytosis and megaloblastoid erythropoiesis. PMID:29784638 reported three siblings with homozygous variant c.289G>C (p.Gly97Arg) in RBSN. The proband presented global developmental delay, had complete 46,XY male-to-female sex reversal and died at age 20 months after multiple infections. The other 2 affected siblings underwent unrelated-donor bone marrow or stem cell transplantation at 8 and 6.5 months of age, respectively. Both have severe intellectual disability and are nonambulatory and nonverbal. PMID:35652444 reported two unrelated families (three siblings from a family of Iranian descent identified with homozygous variant c.547G>A (p.Gly183Arg) and four members from a family of indigenous Cree descent identified with homozygous variant c.538C>G (p.Arg180Gly)) with overlapping phenotypes including developmental delay, intellectual disability, distal motor axonal neuropathy and facial dysmorphism. Sources: Literature
03 Mar 2023	Intellectual disability - microarray and sequencing v4.94	CTR9	Achchuthan Shanmugasundram changed review comment from: PMID:35717577 reported two additional unrelated cases with non-synonymous heterozygous CTR9 variants (p.Glu15Asp and p.Pro25Arg) and they presented with macrocephaly, motor delay, and intellectual disability. In addition, functional studies in also showed that knockout/ over-expression of CTR9 variants caused motor defects and enlargement of telencephalon (homologous to the mammalian cerebrum). This gene has not yet been associated with relevant phenotypes in OMIM. It has been associated with Wilms tumour in Gene2Phenotype (phenotype not relevant to this panel).; to: PMID:35717577 reported two additional unrelated cases with non-synonymous heterozygous CTR9 variants (p.Glu15Asp and p.Pro25Arg) and they presented with macrocephaly, motor delay, and intellectual disability. In addition, functional studies in zebrafish also showed that knockout/ over-expression of CTR9 variants caused motor defects and enlargement of telencephalon (homologous to the mammalian cerebrum). This gene has not yet been associated with relevant phenotypes in OMIM. It has been associated with Wilms tumour in Gene2Phenotype (phenotype not relevant to this panel).
03 Mar 2023	Intellectual disability - microarray and sequencing v4.94	DPYSL2	Achchuthan Shanmugasundram Classified gene: DPYSL2 as Amber List (moderate evidence)
03 Mar 2023	Intellectual disability - microarray and sequencing v4.94	DPYSL2	Achchuthan Shanmugasundram Gene: dpysl2 has been classified as Amber List (Moderate Evidence).
03 Mar 2023	Intellectual disability - microarray and sequencing v4.94	DPYSL2	Achchuthan Shanmugasundram Classified gene: DPYSL2 as Amber List (moderate evidence)
03 Mar 2023	Intellectual disability - microarray and sequencing v4.94	DPYSL2	Achchuthan Shanmugasundram Gene: dpysl2 has been classified as Amber List (Moderate Evidence).
03 Mar 2023	Intellectual disability - microarray and sequencing v4.93	DPYSL2	Achchuthan Shanmugasundram changed review comment from: This gene should be rated AMBER, as it has been associated with intellectual disability (ID) from two unrelated cases displaying monoallelic variants in DPYSL2/ CRMP2, and supported by functional studies. However, the evidence is not sufficient for green rating as there are variants reported in other (but different) genes in the two patients. PMID:35861646 reported two cases identified with heterozygous variants (patient1: c.1693C>T (p.Arg565Cys); patient 2: c.42C>A (p.Ser14Arg). These patients had overlapping phenotypes including dysmorphic features, severe global developmental delay and hypoplasia of the corpus callosum. In addition, patient 2 was bed-ridden and could not roll out and had a history of myoclonic seizures and status epilepticus. It should be noted that patient 1 is compound heterozygous for 2 missense variants in the EFCAB5 gene and was hemizygous for a maternally inherited missense variant in the GPKOW gene and patient 2 had 1 de novo missense variant in the COBLL1 gene and was compound heterozygous for 2 missense variants in the POTEF gene. The severity of the phenotypes between the two cases differs significantly and the additional variants may have possibly contributed to this phenotype. Brain-specific Crmp2 knockout mice display neuronal development deficits and behavioural impairments associated with hypoplasia of the corpus callosum. In addition, functional studies performed in zebrafish and cell lines that the CRMP2 variants lead to the loss-of-function of CRMP2 protein and can cause intellectual disability. Sources: Literature; to: This gene should be rated AMBER, as it has been associated with intellectual disability (ID) from two unrelated cases displaying monoallelic variants in DPYSL2/ CRMP2, and supported by functional studies. However, the evidence is not sufficient for green rating as there are variants reported in other (but different) genes in the two patients. PMID:35861646 reported two cases identified with heterozygous variants (patient1: c.1693C>T (p.Arg565Cys); patient 2: c.42C>A (p.Ser14Arg). These patients had overlapping phenotypes including dysmorphic features, severe global developmental delay and hypoplasia of the corpus callosum. In addition, patient 2 was bed-ridden and could not roll out and had a history of myoclonic seizures and status epilepticus. It should be noted that patient 1 is compound heterozygous for 2 missense variants in the EFCAB5 gene and was hemizygous for a maternally inherited missense variant in the GPKOW gene and patient 2 had 1 de novo missense variant in the COBLL1 gene and was compound heterozygous for 2 missense variants in the POTEF gene. The severity of the phenotypes between the two cases differs significantly and the additional variants may have possibly contributed to this phenotype. Brain-specific Crmp2 knockout mice display neuronal development deficits and behavioural impairments associated with hypoplasia of the corpus callosum. In addition, functional studies performed in zebrafish and cell lines that the CRMP2 variants lead to the loss-of-function of CRMP2 protein and can cause intellectual disability. This gene has not yet been associated with relevant phenotypes either in OMIM or in Gene2Phenotype. Sources: Literature
03 Mar 2023	Intellectual disability - microarray and sequencing v4.93	DPYSL2	Achchuthan Shanmugasundram gene: DPYSL2 was added gene: DPYSL2 was added to Intellectual disability. Sources: Literature Mode of inheritance for gene: DPYSL2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: DPYSL2 were set to 27249678; 35861646 Phenotypes for gene: DPYSL2 were set to intellectual disability, MONDO:0001071; Aplasia/Hypoplasia of the corpus callosum, HP:0007370 Review for gene: DPYSL2 was set to AMBER Added comment: This gene should be rated AMBER, as it has been associated with intellectual disability (ID) from two unrelated cases displaying monoallelic variants in DPYSL2/ CRMP2, and supported by functional studies. However, the evidence is not sufficient for green rating as there are variants reported in other (but different) genes in the two patients. PMID:35861646 reported two cases identified with heterozygous variants (patient1: c.1693C>T (p.Arg565Cys); patient 2: c.42C>A (p.Ser14Arg). These patients had overlapping phenotypes including dysmorphic features, severe global developmental delay and hypoplasia of the corpus callosum. In addition, patient 2 was bed-ridden and could not roll out and had a history of myoclonic seizures and status epilepticus. It should be noted that patient 1 is compound heterozygous for 2 missense variants in the EFCAB5 gene and was hemizygous for a maternally inherited missense variant in the GPKOW gene and patient 2 had 1 de novo missense variant in the COBLL1 gene and was compound heterozygous for 2 missense variants in the POTEF gene. The severity of the phenotypes between the two cases differs significantly and the additional variants may have possibly contributed to this phenotype. Brain-specific Crmp2 knockout mice display neuronal development deficits and behavioural impairments associated with hypoplasia of the corpus callosum. In addition, functional studies performed in zebrafish and cell lines that the CRMP2 variants lead to the loss-of-function of CRMP2 protein and can cause intellectual disability. Sources: Literature
02 Mar 2023	Intellectual disability - microarray and sequencing v4.92	CTR9	Achchuthan Shanmugasundram changed review comment from: PMID:35717577 reported two additional unrelated cases with non-synonymous heterozygous CTR9 variants (p.Glu15Asp and p.Pro25Arg) and they presented with macrocephaly, motor delay, and intellectual disability. In addition, functional studies in also showed that knockout/ over-expression of CTR9 variants caused motor defects and enlargement of telencephalon (homologous to the mammalian cerebrum).; to: PMID:35717577 reported two additional unrelated cases with non-synonymous heterozygous CTR9 variants (p.Glu15Asp and p.Pro25Arg) and they presented with macrocephaly, motor delay, and intellectual disability. In addition, functional studies in also showed that knockout/ over-expression of CTR9 variants caused motor defects and enlargement of telencephalon (homologous to the mammalian cerebrum). This gene has not yet been associated with relevant phenotypes in OMIM. It has been associated with Wilms tumour in Gene2Phenotype (phenotype not relevant to this panel).
02 Mar 2023	Intellectual disability - microarray and sequencing v4.92	CTR9	Achchuthan Shanmugasundram edited their review of gene: CTR9: Added comment: PMID:35717577 reported two additional unrelated cases with non-synonymous heterozygous CTR9 variants (p.Glu15Asp and p.Pro25Arg) and they presented with macrocephaly, motor delay, and intellectual disability. In addition, functional studies in also showed that knockout/ over-expression of CTR9 variants caused motor defects and enlargement of telencephalon (homologous to the mammalian cerebrum).; Changed phenotypes to: Macrocephaly, HP:0000256, Motor delay, HP:0001270, intellectual disability, MONDO_0001071
02 Mar 2023	Intellectual disability - microarray and sequencing v4.92	CTR9	Achchuthan Shanmugasundram reviewed gene: CTR9: Rating: AMBER; Mode of pathogenicity: None; Publications: 35717577; Phenotypes: Macrocephaly, HP:0000256, Motor delay, HP:0001270, intellectual disability, MONDO_000107; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
02 Mar 2023	Intellectual disability - microarray and sequencing v4.92	NUP214	Eleanor Williams changed review comment from: Associated with {Encephalopathy, acute, infection-induced, susceptibility to, 9} 618426 in OMIM and Gene2Phenotype (probable). PMID: 31178128 - Fichtman et al 2019 - report on two families one of Palestinian decent, the other Northern European (not Finnish descent). Each had two affected siblings in which neurological decline was seen after febrile events. The older son in family A, exhibited minor developmental delay from infancy. A homozygous missense variant was identified in NUP214 (p.Arg38Cys) in family A and segregated with the disease in available family members. In family B affected sisters were compound heterozygous for a frameshift and a missense variant in NUP214 (p.Pro387Ser and p.Pro525Leufs∗6). Functional studies with fibroblasts from one patient in family A showed a decrease in NUP214 and NUP88 levels compared to controls, PMID: 30758658 - Shamseldin et al 2019 - describe a multiplex consanguineous family in which four affected members presented with severe neonatal hypotonia, profound global developmental delay, progressive microcephaly and early death (<2 year old). Whole exome sequencing revealed the presence of a novel homozygous missense variant in NUP214, p.D154G. PMID: 29483668 - Egloff et al 2018 - report a 4-year-old girl presenting with developmental delay, growth retardation and facial dysmorphism. She was found to have a 9q deletion inherited from her healthy mother and a hemizygous one-base pair deletion in the NUP214 gene inherited from her father. From patient leukocytes it was found that the expression level of the NUP214 transcript was significantly decreased and close to zero in the patient compared to the controls. ; to: Associated with {Encephalopathy, acute, infection-induced, susceptibility to, 9} 618426 in OMIM and Gene2Phenotype (probable). PMID: 31178128 - Fichtman et al 2019 - report on two families one of Palestinian decent, the other Northern European (not Finnish descent). Each had two affected family members in which neurological decline was seen after febrile events. The older son in family A, exhibited minor developmental delay from infancy. A homozygous missense variant was identified in NUP214 (p.Arg38Cys) in family A and segregated with the disease in available family members. In family B affected sisters were compound heterozygous for a frameshift and a missense variant in NUP214 (p.Pro387Ser and p.Pro525Leufs∗6). Functional studies with fibroblasts from one patient in family A showed a decrease in NUP214 and NUP88 levels compared to controls, PMID: 30758658 - Shamseldin et al 2019 - describe a multiplex consanguineous family in which four affected members presented with severe neonatal hypotonia, profound global developmental delay, progressive microcephaly and early death (<2 year old). Whole exome sequencing revealed the presence of a novel homozygous missense variant in NUP214, p.D154G. PMID: 29483668 - Egloff et al 2018 - report a 4-year-old girl presenting with developmental delay, growth retardation and facial dysmorphism. She was found to have a 9q deletion inherited from her healthy mother and a hemizygous one-base pair deletion in the NUP214 gene inherited from her father. From patient leukocytes it was found that the expression level of the NUP214 transcript was significantly decreased and close to zero in the patient compared to the controls.
02 Mar 2023	Intellectual disability - microarray and sequencing v4.92	NUP214	Eleanor Williams edited their review of gene: NUP214: Changed publications to: 31178128, 30758658, 29483668
01 Mar 2023	Intellectual disability - microarray and sequencing v4.92	SEMA6B	Achchuthan Shanmugasundram Classified gene: SEMA6B as Amber List (moderate evidence)
01 Mar 2023	Intellectual disability - microarray and sequencing v4.92	SEMA6B	Achchuthan Shanmugasundram Gene: sema6b has been classified as Amber List (Moderate Evidence).
01 Mar 2023	Intellectual disability - microarray and sequencing v4.92	SEMA6B	Achchuthan Shanmugasundram Classified gene: SEMA6B as Amber List (moderate evidence)
01 Mar 2023	Intellectual disability - microarray and sequencing v4.92	SEMA6B	Achchuthan Shanmugasundram Gene: sema6b has been classified as Amber List (Moderate Evidence).
01 Mar 2023	Intellectual disability - microarray and sequencing v4.92	SEMA6B	Achchuthan Shanmugasundram Tag Q1_23_promote_green tag was added to gene: SEMA6B.
01 Mar 2023	Intellectual disability - microarray and sequencing v4.92	SEMA6B	Achchuthan Shanmugasundram Classified gene: SEMA6B as Amber List (moderate evidence)
01 Mar 2023	Intellectual disability - microarray and sequencing v4.92	SEMA6B	Achchuthan Shanmugasundram Gene: sema6b has been classified as Amber List (Moderate Evidence).
01 Mar 2023	Intellectual disability - microarray and sequencing v4.91	SEMA6B	Achchuthan Shanmugasundram gene: SEMA6B was added gene: SEMA6B was added to Intellectual disability. Sources: Literature Mode of inheritance for gene: SEMA6B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SEMA6B were set to 35604360 Phenotypes for gene: SEMA6B were set to Intellectual disability, MONDO:0001071 Review for gene: SEMA6B was set to GREEN Added comment: Comment on gene classification: This gene should be rated GREEN in this panel as monoallelic variants in this gene has been associated with a final diagnosis of intellectual disability (ID) in 11 unrelated cases. PMID:35604360 reports 14 heterozygous variants (11 novel and 3 previously reported variants) observed in 16 unrelated individuals referred for ID. Out of these, 11 of them had a final diagnosis of ID. Heterozygous variants in SEMA6B has previously been reported in patients with progressive myoclonic epilepsy (MIM #618876) and there were no cases of ID reported before. This study indicated that the clinical spectrum is wider and included ID without epilepsy or myoclonus. Functional studies of selected variants and shRNA knock down studies showed mislocalisation and abnormal protein function. Sources: Literature
01 Mar 2023	Intellectual disability - microarray and sequencing v4.90	EMC1	Achchuthan Shanmugasundram Phenotypes for gene: EMC1 were changed from Cerebellar atrophy, visual impairment, and psychomotor retardation, OMIM:616875 to Cerebellar atrophy, visual impairment, and psychomotor retardation, OMIM:616875
01 Mar 2023	Intellectual disability - microarray and sequencing v4.90	EMC1	Achchuthan Shanmugasundram Phenotypes for gene: EMC1 were changed from Cerebellar atrophy, visual impairment, and psychomotor retardation, OMIM:616875 to Cerebellar atrophy, visual impairment, and psychomotor retardation, OMIM:616875
01 Mar 2023	Intellectual disability - microarray and sequencing v4.90	EMC1	Achchuthan Shanmugasundram Phenotypes for gene: EMC1 were changed from Cerebellar atrophy, visual impairment, and psychomotor retardation, OMIM:616875 to Cerebellar atrophy, visual impairment, and psychomotor retardation, OMIM:616875
01 Mar 2023	Intellectual disability - microarray and sequencing v4.90	EMC1	Achchuthan Shanmugasundram Phenotypes for gene: EMC1 were changed from Cerebellar atrophy, visual impairment, and psychomotor retardation, OMIM:616875 to Cerebellar atrophy, visual impairment, and psychomotor retardation, OMIM:616875
01 Mar 2023	Intellectual disability - microarray and sequencing v4.89	EMC1	Achchuthan Shanmugasundram Phenotypes for gene: EMC1 were changed from Cerebellar atrophy, visual impairment, and psychomotor retardation, OMIM:616875 to Cerebellar atrophy, visual impairment, and psychomotor retardation, OMIM:616875
01 Mar 2023	Intellectual disability - microarray and sequencing v4.89	EMC1	Achchuthan Shanmugasundram Phenotypes for gene: EMC1 were changed from Cerebellar atrophy, visual impairment, and psychomotor retardation, OMIM:616875 to Cerebellar atrophy, visual impairment, and psychomotor retardation, OMIM:616875
01 Mar 2023	Intellectual disability - microarray and sequencing v4.89	EMC1	Achchuthan Shanmugasundram Phenotypes for gene: EMC1 were changed from Cerebellar atrophy, visual impairment, and psychomotor retardation, MIM 616875; Cerebellar atrophy, visual impairment, and psychomotor retardation, 616875 to Cerebellar atrophy, visual impairment, and psychomotor retardation, OMIM:616875
28 Feb 2023	Intellectual disability - microarray and sequencing v4.88	CPLX1	Sarah Leigh Entity copied from Genetic epilepsy syndromes v3.90
28 Feb 2023	Intellectual disability - microarray and sequencing v4.88	CPLX1	Sarah Leigh gene: CPLX1 was added gene: CPLX1 was added to Intellectual disability. Sources: Expert list,Expert Review Amber Q1_23_promote_green tags were added to gene: CPLX1. Mode of inheritance for gene: CPLX1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CPLX1 were set to 26539891; 28422131 Phenotypes for gene: CPLX1 were set to Developmental and epileptic encephalopathy 63, OMIM:617976; developmental and epileptic encephalopathy, 63, MONDO:0033372
28 Feb 2023	Intellectual disability - microarray and sequencing v4.87	STXBP1	Sarah Leigh Tag Q1_23_MOI tag was added to gene: STXBP1.
28 Feb 2023	Intellectual disability - microarray and sequencing v4.87	STXBP1	Sarah Leigh Added comment: Comment on mode of inheritance: Due to the report of biallelic STXBP1 variants in a family with encephalopathy, developmental delay, intellectual disability and epilepsy (PMID: 31855252), the mode of inheritance for this gene should be changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal.
28 Feb 2023	Intellectual disability - microarray and sequencing v4.87	STXBP1	Sarah Leigh Mode of inheritance for gene: STXBP1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
28 Feb 2023	Intellectual disability - microarray and sequencing v4.86	STXBP1	Sarah Leigh Phenotypes for gene: STXBP1 were changed from Epileptic encephalopathy, early infantile, 4, 612164 (2); ANGELMAN/PITT HOPKINS SYNDROME-LIKE DISORDER to Developmental and epileptic encephalopathy 4, OMIM:612164; developmental and epileptic encephalopathy, 4, MONDO:0012812
28 Feb 2023	Intellectual disability - microarray and sequencing v4.85	STXBP1	Sarah Leigh Publications for gene: STXBP1 were set to 31855252; 18469812; 19557857
28 Feb 2023	Intellectual disability - microarray and sequencing v4.84	STXBP1	Sarah Leigh Publications for gene: STXBP1 were set to
28 Feb 2023	Intellectual disability - microarray and sequencing v4.83	STXBP1	Sarah Leigh reviewed gene: STXBP1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
28 Feb 2023	Intellectual disability - microarray and sequencing v4.83	TASP1	Achchuthan Shanmugasundram Publications for gene: TASP1 were set to 29633245; 31209944; 31350873; 35512351
28 Feb 2023	Intellectual disability - microarray and sequencing v4.83	TASP1	Achchuthan Shanmugasundram Publications for gene: TASP1 were set to 29633245; 31209944; 31350873; 35512351
28 Feb 2023	Intellectual disability - microarray and sequencing v4.83	TASP1	Achchuthan Shanmugasundram Publications for gene: TASP1 were set to 29633245; 31209944; 31350873; 35512351
28 Feb 2023	Intellectual disability - microarray and sequencing v4.83	TASP1	Achchuthan Shanmugasundram Publications for gene: TASP1 were set to 29633245; 31209944; 31350873; 35512351
28 Feb 2023	Intellectual disability - microarray and sequencing v4.83	TASP1	Achchuthan Shanmugasundram Publications for gene: TASP1 were set to 29633245; 31209944; 31350873; 35512351
28 Feb 2023	Intellectual disability - microarray and sequencing v4.83	TASP1	Achchuthan Shanmugasundram Publications for gene: TASP1 were set to 31209944; 31350873
28 Feb 2023	Intellectual disability - microarray and sequencing v4.82	TASP1	Achchuthan Shanmugasundram Phenotypes for gene: TASP1 were changed from Suleiman-El-Hattab syndrome, OMIM:618950 to Suleiman-El-Hattab syndrome, OMIM:618950
28 Feb 2023	Intellectual disability - microarray and sequencing v4.82	TASP1	Achchuthan Shanmugasundram Phenotypes for gene: TASP1 were changed from Suleiman-El-Hattab syndrome, OMIM:618950 to Suleiman-El-Hattab syndrome, OMIM:618950
28 Feb 2023	Intellectual disability - microarray and sequencing v4.82	TASP1	Achchuthan Shanmugasundram Phenotypes for gene: TASP1 were changed from Suleiman-El-Hattab syndrome, OMIM:618950 to Suleiman-El-Hattab syndrome, OMIM:618950
28 Feb 2023	Intellectual disability - microarray and sequencing v4.82	TASP1	Achchuthan Shanmugasundram Phenotypes for gene: TASP1 were changed from Suleiman-El-Hattab syndrome, OMIM:618950 to Suleiman-El-Hattab syndrome, OMIM:618950
28 Feb 2023	Intellectual disability - microarray and sequencing v4.81	TASP1	Achchuthan Shanmugasundram Phenotypes for gene: TASP1 were changed from Suleiman-El-Hattab syndrome, OMIM:618950 to Suleiman-El-Hattab syndrome, OMIM:618950
28 Feb 2023	Intellectual disability - microarray and sequencing v4.81	TASP1	Achchuthan Shanmugasundram Phenotypes for gene: TASP1 were changed from Suleiman-El-Hattab syndrome, OMIM:618950 to Suleiman-El-Hattab syndrome, OMIM:618950
28 Feb 2023	Intellectual disability - microarray and sequencing v4.81	TASP1	Achchuthan Shanmugasundram Phenotypes for gene: TASP1 were changed from Suleiman-El-Hattab syndrome, OMIM:618950 to Suleiman-El-Hattab syndrome, OMIM:618950
28 Feb 2023	Intellectual disability - microarray and sequencing v4.81	TASP1	Achchuthan Shanmugasundram Phenotypes for gene: TASP1 were changed from Developmental delay; microcephaly; dysmorphic features; congenital abnormalities to Suleiman-El-Hattab syndrome, OMIM:618950
27 Feb 2023	Intellectual disability - microarray and sequencing v4.80	FOXP4	Achchuthan Shanmugasundram Publications for gene: FOXP4 were set to 33110267; 36301021; 36646976
27 Feb 2023	Intellectual disability - microarray and sequencing v4.81	FOXP4	Achchuthan Shanmugasundram Publications for gene: FOXP4 were set to 33110267; 36301021; 36646976
27 Feb 2023	Intellectual disability - microarray and sequencing v4.81	FOXP4	Achchuthan Shanmugasundram Publications for gene: FOXP4 were set to 33110267; 36301021; 36646976
27 Feb 2023	Intellectual disability - microarray and sequencing v4.81	FOXP4	Achchuthan Shanmugasundram Publications for gene: FOXP4 were set to 33110267; 36301021; 36646976
27 Feb 2023	Intellectual disability - microarray and sequencing v4.81	FOXP4	Achchuthan Shanmugasundram Publications for gene: FOXP4 were set to 33110267; 36301021; 36646976
27 Feb 2023	Intellectual disability - microarray and sequencing v4.80	FOXP4	Achchuthan Shanmugasundram Publications for gene: FOXP4 were set to 33110267; 36301021; 36646976
27 Feb 2023	Intellectual disability - microarray and sequencing v4.80	FOXP4	Achchuthan Shanmugasundram Publications for gene: FOXP4 were set to 33110267; 36301021; 36646976
27 Feb 2023	Intellectual disability - microarray and sequencing v4.80	FOXP4	Achchuthan Shanmugasundram Publications for gene: FOXP4 were set to 33110267; 36301021; 36646976
27 Feb 2023	Intellectual disability - microarray and sequencing v4.80	FOXP4	Achchuthan Shanmugasundram Publications for gene: FOXP4 were set to 33110267
27 Feb 2023	Intellectual disability - microarray and sequencing v4.79	FOXP4	Achchuthan Shanmugasundram reviewed gene: FOXP4: Rating: AMBER; Mode of pathogenicity: None; Publications: 33110267, 36301021, 36646976; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
27 Feb 2023	Intellectual disability - microarray and sequencing v4.79	FOXP4	Achchuthan Shanmugasundram Deleted their review
27 Feb 2023	Intellectual disability - microarray and sequencing v4.79	FOXP4	Achchuthan Shanmugasundram edited their review of gene: FOXP4: Changed publications to: 33110267, 36301021, 36646976
27 Feb 2023	Intellectual disability - microarray and sequencing v4.79	FOXP4	Achchuthan Shanmugasundram reviewed gene: FOXP4: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: 33110267, 36301021, 36646976; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
27 Feb 2023	Intellectual disability - microarray and sequencing v4.79	PRRT2	Arina Puzriakova commented on gene: PRRT2
27 Feb 2023	Intellectual disability - microarray and sequencing v4.79	PRRT2	Arina Puzriakova Publications for gene: PRRT2 were set to 21937992; 23352743; 25595153; 23398397; 23126439
23 Feb 2023	Intellectual disability - microarray and sequencing v4.78	FOXRED1	Sarah Leigh Phenotypes for gene: FOXRED1 were changed from MITOCHONDRIAL COMPLEX I DEFICIENCY to Mitochondrial complex I deficiency, nuclear type 19, OMIM:618241; mitochondrial complex 1 deficiency, nuclear type 19, MONDO:0032624
23 Feb 2023	Intellectual disability - microarray and sequencing v4.77	GRIA2	Sarah Leigh Publications for gene: GRIA2 were set to 28725178; 26350204; 24896178; 22669415; 28630856; 31300657
23 Feb 2023	Intellectual disability - microarray and sequencing v4.76	GRIA2	Sarah Leigh Phenotypes for gene: GRIA2 were changed from Epileptic encephalopathy intellectual disability stereotypic hand movements; Neurodevelopmental disorder with language impairment and behavioral abnormalities MIM#618917 to Neurodevelopmental disorder with language impairment and behavioral abnormalities, OMIM:618917; neurodevelopmental disorder with language impairment and behavioral abnormalities, MONDO:0030060
22 Feb 2023	Intellectual disability - microarray and sequencing v4.75	ROBO1	Achchuthan Shanmugasundram Phenotypes for gene: ROBO1 were changed from ROBO1-related NDD; intellectual disability, MONDO:0001071 to ROBO1-related NDD; intellectual disability, MONDO:0001071
22 Feb 2023	Intellectual disability - microarray and sequencing v4.75	ROBO1	Achchuthan Shanmugasundram Phenotypes for gene: ROBO1 were changed from ROBO1-related NDD; intellectual disability, MONDO:0001071 to ROBO1-related NDD; intellectual disability, MONDO:0001071
22 Feb 2023	Intellectual disability - microarray and sequencing v4.72	ROBO1	Achchuthan Shanmugasundram Tag Q1_23_promote_green tag was added to gene: ROBO1.
22 Feb 2023	Intellectual disability - microarray and sequencing v4.72	ROBO1	Achchuthan Shanmugasundram Phenotypes for gene: ROBO1 were changed from ROBO1-related NDD; intellectual disability, MONDO:0001071 to ROBO1-related NDD; intellectual disability, MONDO:0001071
22 Feb 2023	Intellectual disability - microarray and sequencing v4.72	ROBO1	Achchuthan Shanmugasundram changed review comment from: Comment on gene classification: This gene should be rated green as this gene has been associated with intellectual disability from six unrelated cases. However, the MOI should be set as "BIALLELIC, autosomal or pseudoautosomal" as five of these cases were reported with biallelic variants and only one case was reported with monoallelic variant. PMID:28286008 reported a boy with compound heterozygous variants that was presented with developmental delay in 13 months and had severe intellectual disability and hyperactivity at nine years of age. He was nonverbal and wheelchair dependent because of spastic diplegia and ataxia. PMID:30692597 reported a five year old boy identified with a homozygous ROBO1 variant who had combined pituitary hormone deficiency, psychomotor developmental delay, severe intellectual disability, sensorineural hearing loss, strabismus and characteristic facial features. PMID:35227688 reported eight patients including the boy reported in PMID:30692597. Of the other seven patients, three were presented with intellectual disability. Of these three patients, two harboured compound heterozygous and one harboured homozygous variants. PMID:35348658 reported a patient identified with monoallelic de novo variant (p.D422G) who presented with early-onset epileptic encephalopathy and had severe developmental delay. This gene has not yet been associated with any phenotypes in OMIM or Gene2Phenotype.; to: Comment on gene classification: This gene should be rated green as this gene has been associated with intellectual disability from six unrelated cases. However, the MOI should be set as "BIALLELIC, autosomal or pseudoautosomal" as five of these cases were reported with biallelic variants and only one case was reported with monoallelic variant. PMID:28286008 reported a boy with compound heterozygous variants that was presented with developmental delay in 13 months and had severe intellectual disability and hyperactivity at nine years of age. He was nonverbal and wheelchair dependent because of spastic diplegia and ataxia. PMID:30692597 reported a five year old boy identified with a homozygous ROBO1 variant who had combined pituitary hormone deficiency, psychomotor developmental delay, severe intellectual disability, sensorineural hearing loss, strabismus and characteristic facial features. PMID:35227688 reported eight patients including the boy reported in PMID:30692597. Of the other seven patients, three were presented with intellectual disability. Of these three patients, two harboured compound heterozygous and one harboured homozygous variants. PMID:35348658 reported a patient identified with monoallelic de novo variant (p.D422G) who presented with early-onset epileptic encephalopathy and had severe developmental delay. This gene has not yet been associated with any phenotypes in OMIM or Gene2Phenotype.
22 Feb 2023	Intellectual disability - microarray and sequencing v4.72	ROBO1	Achchuthan Shanmugasundram Phenotypes for gene: ROBO1 were changed from ROBO1-related NDD; intellectual disability, MONDO:0001071 to ROBO1-related NDD; intellectual disability, MONDO:0001071
22 Feb 2023	Intellectual disability - microarray and sequencing v4.72	ROBO1	Achchuthan Shanmugasundram Phenotypes for gene: ROBO1 were changed from ROBO1-related NDD; intellectual disability, MONDO:0001071 to ROBO1-related NDD; intellectual disability, MONDO:0001071
22 Feb 2023	Intellectual disability - microarray and sequencing v4.76	ROBO1	Achchuthan Shanmugasundram Phenotypes for gene: ROBO1 were changed from ROBO1-related NDD; intellectual disability, MONDO:0001071 to ROBO1-related NDD; intellectual disability, MONDO:0001071
22 Feb 2023	Intellectual disability - microarray and sequencing v4.72	ROBO1	Achchuthan Shanmugasundram Phenotypes for gene: ROBO1 were changed from ROBO1-related NDD; intellectual disability, MONDO:0001071 to ROBO1-related NDD; intellectual disability, MONDO:0001071
22 Feb 2023	Intellectual disability - microarray and sequencing v4.75	ROBO1	Achchuthan Shanmugasundram Phenotypes for gene: ROBO1 were changed from ROBO1-related NDD; intellectual disability, MONDO:0001071 to ROBO1-related NDD; intellectual disability, MONDO:0001071
22 Feb 2023	Intellectual disability - microarray and sequencing v4.75	ROBO1	Achchuthan Shanmugasundram Phenotypes for gene: ROBO1 were changed from ROBO1-related NDD; intellectual disability, MONDO:0001071 to ROBO1-related NDD; intellectual disability, MONDO:0001071
22 Feb 2023	Intellectual disability - microarray and sequencing v4.75	ROBO1	Achchuthan Shanmugasundram Phenotypes for gene: ROBO1 were changed from ROBO1-related NDD; intellectual disability, MONDO:0001071 to ROBO1-related NDD; intellectual disability, MONDO:0001071
22 Feb 2023	Intellectual disability - microarray and sequencing v4.72	ROBO1	Achchuthan Shanmugasundram Mode of inheritance for gene: ROBO1 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
22 Feb 2023	Intellectual disability - microarray and sequencing v4.74	ROBO1	Achchuthan Shanmugasundram Mode of inheritance for gene: ROBO1 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
22 Feb 2023	Intellectual disability - microarray and sequencing v4.75	ROBO1	Achchuthan Shanmugasundram Phenotypes for gene: ROBO1 were changed from ROBO1-related NDD to ROBO1-related NDD; intellectual disability, MONDO:0001071
22 Feb 2023	Intellectual disability - microarray and sequencing v4.74	ROBO1	Achchuthan Shanmugasundram Mode of inheritance for gene: ROBO1 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
22 Feb 2023	Intellectual disability - microarray and sequencing v4.71	ROBO1	Achchuthan Shanmugasundram Mode of inheritance for gene: ROBO1 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
22 Feb 2023	Intellectual disability - microarray and sequencing v4.74	ROBO1	Achchuthan Shanmugasundram Mode of inheritance for gene: ROBO1 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
22 Feb 2023	Intellectual disability - microarray and sequencing v4.71	ROBO1	Achchuthan Shanmugasundram Mode of inheritance for gene: ROBO1 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
22 Feb 2023	Intellectual disability - microarray and sequencing v4.71	ROBO1	Achchuthan Shanmugasundram Mode of inheritance for gene: ROBO1 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
22 Feb 2023	Intellectual disability - microarray and sequencing v4.73	ROBO1	Achchuthan Shanmugasundram Mode of inheritance for gene: ROBO1 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
22 Feb 2023	Intellectual disability - microarray and sequencing v4.73	ROBO1	Achchuthan Shanmugasundram Mode of inheritance for gene: ROBO1 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
22 Feb 2023	Intellectual disability - microarray and sequencing v4.72	ROBO1	Achchuthan Shanmugasundram Mode of inheritance for gene: ROBO1 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
22 Feb 2023	Intellectual disability - microarray and sequencing v4.71	ROBO1	Achchuthan Shanmugasundram Classified gene: ROBO1 as Amber List (moderate evidence)
22 Feb 2023	Intellectual disability - microarray and sequencing v4.71	ROBO1	Achchuthan Shanmugasundram Gene: robo1 has been classified as Amber List (Moderate Evidence).
22 Feb 2023	Intellectual disability - microarray and sequencing v4.72	ROBO1	Achchuthan Shanmugasundram Mode of inheritance for gene: ROBO1 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
22 Feb 2023	Intellectual disability - microarray and sequencing v4.71	ROBO1	Achchuthan Shanmugasundram Classified gene: ROBO1 as Amber List (moderate evidence)
22 Feb 2023	Intellectual disability - microarray and sequencing v4.71	ROBO1	Achchuthan Shanmugasundram Gene: robo1 has been classified as Amber List (Moderate Evidence).
22 Feb 2023	Intellectual disability - microarray and sequencing v4.71	ROBO1	Achchuthan Shanmugasundram Mode of inheritance for gene: ROBO1 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
22 Feb 2023	Intellectual disability - microarray and sequencing v4.72	ROBO1	Achchuthan Shanmugasundram Mode of inheritance for gene: ROBO1 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
22 Feb 2023	Intellectual disability - microarray and sequencing v4.71	ROBO1	Achchuthan Shanmugasundram Mode of inheritance for gene: ROBO1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
22 Feb 2023	Intellectual disability - microarray and sequencing v4.71	ROBO1	Achchuthan Shanmugasundram Classified gene: ROBO1 as Amber List (moderate evidence)
22 Feb 2023	Intellectual disability - microarray and sequencing v4.71	ROBO1	Achchuthan Shanmugasundram Gene: robo1 has been classified as Amber List (Moderate Evidence).
22 Feb 2023	Intellectual disability - microarray and sequencing v4.71	ROBO1	Achchuthan Shanmugasundram Classified gene: ROBO1 as Amber List (moderate evidence)
22 Feb 2023	Intellectual disability - microarray and sequencing v4.71	ROBO1	Achchuthan Shanmugasundram Gene: robo1 has been classified as Amber List (Moderate Evidence).
22 Feb 2023	Intellectual disability - microarray and sequencing v4.70	ROBO1	Achchuthan Shanmugasundram Classified gene: ROBO1 as Amber List (moderate evidence)
22 Feb 2023	Intellectual disability - microarray and sequencing v4.70	ROBO1	Achchuthan Shanmugasundram Gene: robo1 has been classified as Amber List (Moderate Evidence).
22 Feb 2023	Intellectual disability - microarray and sequencing v4.70	ROBO1	Achchuthan Shanmugasundram Classified gene: ROBO1 as Amber List (moderate evidence)
22 Feb 2023	Intellectual disability - microarray and sequencing v4.70	ROBO1	Achchuthan Shanmugasundram Gene: robo1 has been classified as Amber List (Moderate Evidence).
22 Feb 2023	Intellectual disability - microarray and sequencing v4.69	ROBO1	Achchuthan Shanmugasundram reviewed gene: ROBO1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28286008, 30692597, 35227688, 35348658; Phenotypes: intellectual disability, MONDO:0001071; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
21 Feb 2023	Intellectual disability - microarray and sequencing v4.69	CHAMP1	Achchuthan Shanmugasundram Publications for gene: CHAMP1 were set to 35271727
21 Feb 2023	Intellectual disability - microarray and sequencing v4.69	CHAMP1	Achchuthan Shanmugasundram Publications for gene: CHAMP1 were set to 35271727
21 Feb 2023	Intellectual disability - microarray and sequencing v4.69	CHAMP1	Achchuthan Shanmugasundram Publications for gene: CHAMP1 were set to 35271727
21 Feb 2023	Intellectual disability - microarray and sequencing v4.69	CHAMP1	Achchuthan Shanmugasundram Publications for gene: CHAMP1 were set to 35271727
21 Feb 2023	Intellectual disability - microarray and sequencing v4.69	CHAMP1	Achchuthan Shanmugasundram Publications for gene: CHAMP1 were set to 0
21 Feb 2023	Intellectual disability - microarray and sequencing v4.68	CHAMP1	Achchuthan Shanmugasundram Phenotypes for gene: CHAMP1 were changed from Neurodevelopmental disorder with hypotonia, impaired language, and dysmorphic features, OMIM:616579 to Neurodevelopmental disorder with hypotonia, impaired language, and dysmorphic features, OMIM:616579
21 Feb 2023	Intellectual disability - microarray and sequencing v4.68	CHAMP1	Achchuthan Shanmugasundram Phenotypes for gene: CHAMP1 were changed from Neurodevelopmental disorder with hypotonia, impaired language, and dysmorphic features, OMIM:616579 to Neurodevelopmental disorder with hypotonia, impaired language, and dysmorphic features, OMIM:616579
21 Feb 2023	Intellectual disability - microarray and sequencing v4.68	CHAMP1	Achchuthan Shanmugasundram Phenotypes for gene: CHAMP1 were changed from Neurodevelopmental disorder with hypotonia, impaired language, and dysmorphic features, OMIM:616579 to Neurodevelopmental disorder with hypotonia, impaired language, and dysmorphic features, OMIM:616579
21 Feb 2023	Intellectual disability - microarray and sequencing v4.68	CHAMP1	Achchuthan Shanmugasundram Phenotypes for gene: CHAMP1 were changed from Neurodevelopmental disorder with hypotonia, impaired language, and dysmorphic features, OMIM:616579 to Neurodevelopmental disorder with hypotonia, impaired language, and dysmorphic features, OMIM:616579
21 Feb 2023	Intellectual disability - microarray and sequencing v4.67	CHAMP1	Achchuthan Shanmugasundram Phenotypes for gene: CHAMP1 were changed from Neurodevelopmental disorder with hypotonia, impaired language, and dysmorphic features, OMIM:616579 to Neurodevelopmental disorder with hypotonia, impaired language, and dysmorphic features, OMIM:616579
21 Feb 2023	Intellectual disability - microarray and sequencing v4.67	CHAMP1	Achchuthan Shanmugasundram Phenotypes for gene: CHAMP1 were changed from Neurodevelopmental disorder with hypotonia, impaired language, and dysmorphic features, OMIM:616579 to Neurodevelopmental disorder with hypotonia, impaired language, and dysmorphic features, OMIM:616579
21 Feb 2023	Intellectual disability - microarray and sequencing v4.67	CHAMP1	Achchuthan Shanmugasundram Phenotypes for gene: CHAMP1 were changed from INTELLECTUAL DISABILITY to Neurodevelopmental disorder with hypotonia, impaired language, and dysmorphic features, OMIM:616579
10 Feb 2023	Intellectual disability - microarray and sequencing v4.66	HIST1H1E	Achchuthan Shanmugasundram Publications for gene: HIST1H1E were set to 28475857
10 Feb 2023	Intellectual disability - microarray and sequencing v4.65	RAB39B	Achchuthan Shanmugasundram Added comment: Comment on publications: Additional cases diagnosed with intellectual disability, autism, macrocephaly and poor motor coordination reported in PMIDs 29152164, 32873259 & 34761259. There are also ample functional evidence including studies from animal models described in these and other publications.
10 Feb 2023	Intellectual disability - microarray and sequencing v4.65	RAB39B	Achchuthan Shanmugasundram Publications for gene: RAB39B were set to 20159109; 25434005; 11050621; 29152164; 32873259; 34761259
10 Feb 2023	Intellectual disability - microarray and sequencing v4.64	RAB39B	Achchuthan Shanmugasundram Publications for gene: RAB39B were set to
10 Feb 2023	Intellectual disability - microarray and sequencing v4.63	RAB39B	Achchuthan Shanmugasundram Phenotypes for gene: RAB39B were changed from Mental retardation, X-linked 72, 300271; Mental Retardation, X-linked; MENTAL RETARDATION X-LINKED TYPE 72 (MRX72) +/- PARKINSONS to Intellectual developmental disorder, X-linked 72, OMIM:300271; Waisman syndrome, OMIM:311510
08 Feb 2023	Intellectual disability - microarray and sequencing v4.62	TRPM3	Eleanor Williams Phenotypes for gene: TRPM3 were changed from Generalized hypotonia; Global developmental delay; Intellectual disability; Seizures; Autistic behavior to Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures, OMIM:620224
08 Feb 2023	Intellectual disability - microarray and sequencing v4.61	TRPM3	Eleanor Williams Tag gene-checked was removed from gene: TRPM3.
08 Feb 2023	Intellectual disability - microarray and sequencing v4.61	TMEM63C	Eleanor Williams Tag gene-checked tag was added to gene: TMEM63C.
08 Feb 2023	Intellectual disability - microarray and sequencing v4.61	SPATA5L1	Eleanor Williams Tag gene-checked tag was added to gene: SPATA5L1.
08 Feb 2023	Intellectual disability - microarray and sequencing v4.61	CCDC32	Eleanor Williams Tag gene-checked tag was added to gene: CCDC32.
07 Feb 2023	Intellectual disability - microarray and sequencing v4.61	WNK3	Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: WNK3.
07 Feb 2023	Intellectual disability - microarray and sequencing v4.61	SRRM2	Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: SRRM2.
07 Feb 2023	Intellectual disability - microarray and sequencing v4.61	SCAMP5	Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: SCAMP5.
07 Feb 2023	Intellectual disability - microarray and sequencing v4.61	SCAF4	Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: SCAF4.
07 Feb 2023	Intellectual disability - microarray and sequencing v4.61	RAB11A	Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: RAB11A.
07 Feb 2023	Intellectual disability - microarray and sequencing v4.61	HMGB1	Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: HMGB1.
07 Feb 2023	Intellectual disability - microarray and sequencing v4.61	FOXP4	Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: FOXP4.
07 Feb 2023	Intellectual disability - microarray and sequencing v4.61	DROSHA	Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: DROSHA.
07 Feb 2023	Intellectual disability - microarray and sequencing v4.61	CDK9	Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: CDK9.
07 Feb 2023	Intellectual disability - microarray and sequencing v4.61	BLOC1S1	Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: BLOC1S1.
07 Feb 2023	Intellectual disability - microarray and sequencing v4.61	ASCC3	Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: ASCC3.
07 Feb 2023	Intellectual disability - microarray and sequencing v4.61	PGM2L1	Achchuthan Shanmugasundram Phenotypes for gene: PGM2L1 were changed from Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skin abnormalities, OMIM:620191 to Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skin abnormalities, OMIM:620191
07 Feb 2023	Intellectual disability - microarray and sequencing v4.60	PGM2L1	Achchuthan Shanmugasundram Phenotypes for gene: PGM2L1 were changed from Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skin abnormalities, OMIM:620191 to Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skin abnormalities, OMIM:620191
07 Feb 2023	Intellectual disability - microarray and sequencing v4.61	PGM2L1	Achchuthan Shanmugasundram Phenotypes for gene: PGM2L1 were changed from Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skin abnormalities, OMIM:620191 to Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skin abnormalities, OMIM:620191
07 Feb 2023	Intellectual disability - microarray and sequencing v4.60	PGM2L1	Achchuthan Shanmugasundram Phenotypes for gene: PGM2L1 were changed from Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skin abnormalities, OMIM:620191 to Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skin abnormalities, OMIM:620191
07 Feb 2023	Intellectual disability - microarray and sequencing v4.60	PGM2L1	Achchuthan Shanmugasundram Phenotypes for gene: PGM2L1 were changed from Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skin abnormalities, OMIM:620191 to Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skin abnormalities, OMIM:620191
07 Feb 2023	Intellectual disability - microarray and sequencing v4.60	PGM2L1	Achchuthan Shanmugasundram Phenotypes for gene: PGM2L1 were changed from Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skin abnormalities, OMIM:620191 to Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skin abnormalities, OMIM:620191
07 Feb 2023	Intellectual disability - microarray and sequencing v4.60	PGM2L1	Achchuthan Shanmugasundram Phenotypes for gene: PGM2L1 were changed from Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skin abnormalities, OMIM:620191 to Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skin abnormalities, OMIM:620191
07 Feb 2023	Intellectual disability - microarray and sequencing v4.60	PGM2L1	Achchuthan Shanmugasundram Phenotypes for gene: PGM2L1 were changed from Neurodevelopmental disorder to Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skin abnormalities, OMIM:620191
07 Feb 2023	Intellectual disability - microarray and sequencing v4.59	PGM2L1	Achchuthan Shanmugasundram Tag gene-checked was removed from gene: PGM2L1.
07 Feb 2023	Intellectual disability - microarray and sequencing v4.59	THUMPD1	Eleanor Williams Added comment: Comment on mode of inheritance: Adding the mode of inheritance of biallelic as this was missing. Autosomal recessive MOI in OMIM for a relevant phenotype.
07 Feb 2023	Intellectual disability - microarray and sequencing v4.59	THUMPD1	Eleanor Williams Mode of inheritance for gene: THUMPD1 was changed from to BIALLELIC, autosomal or pseudoautosomal
07 Feb 2023	Intellectual disability - microarray and sequencing v4.58	THUMPD1	Eleanor Williams Phenotypes for gene: THUMPD1 were changed from THUMPD1 neurodevelopment disorder to Neurodevelopmental disorder with speech delay and variable ocular anomalies, OMIM:619989
07 Feb 2023	Intellectual disability - microarray and sequencing v4.57	ISCA-37429-Loss	Arina Puzriakova Phenotypes for Region: ISCA-37429-Loss were changed from Wolf-Hirschhorn syndrome, OMIM:194190 to Wolf-Hirschhorn syndrome, OMIM:194190
07 Feb 2023	Intellectual disability - microarray and sequencing v4.57	ISCA-37429-Loss	Arina Puzriakova Phenotypes for Region: ISCA-37429-Loss were changed from 194190; Wolf-Hirschhorn syndrome to Wolf-Hirschhorn syndrome, OMIM:194190
07 Feb 2023	Intellectual disability - microarray and sequencing v4.56	ISCA-37420-Loss	Arina Puzriakova Phenotypes for Region: ISCA-37420-Loss were changed from PMID: 18628315 developmental delay, hypotonia, facial dysmorphisms including a long face, a tubular or pear-shaped nose and a bulbous nasal tip, and a friendly/amiable behaviour, other clinically important features include epilepsy, heart defects and kidney/urologic anomalies; 610443; PMID: 25217958; Koolen-De Vries syndrome 610443 to Koolen-De Vries syndrome, OMIM:610443; Developmental delay/intellectual disability, hypotonia, distinctive facial features, congenital malformations, and behavioural feature
07 Feb 2023	Intellectual disability - microarray and sequencing v4.55	ISCA-37420-Loss	Arina Puzriakova commented on Region: ISCA-37420-Loss: Previously in phenotypes field: PMID: 18628315 developmental delay, hypotonia, facial dysmorphisms including a long face, a tubular or pear-shaped nose and a bulbous nasal tip, and a friendly/amiable behaviour, other clinically important features include epilepsy, heart defects and kidney/urologic anomalies; 610443; PMID: 25217958; Koolen-De Vries syndrome 610443
07 Feb 2023	Intellectual disability - microarray and sequencing v4.55	ISCA-37408-Loss	Arina Puzriakova commented on Region: ISCA-37408-Loss
07 Feb 2023	Intellectual disability - microarray and sequencing v4.55	ISCA-37408-Loss	Arina Puzriakova Phenotypes for Region: ISCA-37408-Loss were changed from PMID: 16963482 idiopathic intellectual disability including moderate to severe intellectual disability, autism/autistic features, microcephaly, structural brain anomalies including cortical dysplasia/pachygyria, renal anomalies (multicystic kidney, hydronephrosis), digital camptodactyly, visual impairment, strabismus, neuromotor deficits, communication and attention impairments, and a distinctive pattern of craniofacial features. Dysmorphic craniofacial features include progressive microcephaly, flat occiput, widened inner canthal distance, small palpebral fissures, ptosis, long and straight eyelashes, broad and high nasal root extending to a widened, prominent nasal tip with elongated, smooth philtrum, rounding of the upper vermillion border and everted lower lips. PMID: 18245392 A 32-year-old, mentally retarded male was referred to our centre for further clinical genetic analysis. He was born to non-consanguineous parents after 42 weeks gestation with a birth weight of 3500 g. He had a healthy older brother. In the neonatal period he was hypotonic and at 8 weeks of age he underwent surgery because of an inguinal hernia with removal of an atrophic right testis. His motor development was severely delayed with sitting at 3.5 years and walking at 5 years of age. Speech was poorly developed, characterised by the usage of only a few words. During infancy an optic nerve hypoplasia was diagnosed, and during childhood he frequently suffered from luxations of the patellae, which required surgery. At the age of 32 years his height is 163 cm (_3 SDS) and head circumference 52.5 cm (_2.5 SDS). He has a narrow receding forehead, widened inner canthal distance of 3.5 cm (90th centile), normal outer canthal distance of 8.5 cm (25th centile), telecanthus, short and down slanting palpebral fissures, epicanthal folds, ptosis, long, straight eyelashes, high nasal bridge, low set large ears, flat philtrum, small mouth with high, narrow palate and retrognathia. The thorax is broad with increased internipple distance and slight gynaecomastia. A recent renal ultrasound revealed multiple cysts in the left, dystrophic kidney and two uncomplicated cysts in the enlarged, right kidney. The patient has a normally sized phallus with absent right testis and small left testis. His hands show a simian crease right and tapering fingers with broad proximal interphalangeal joints. He shows sandal gaps on both flat feet with clinodactyly of the fourth and fifth toes (and more); 612513; PMID: 22579565 severe developmental delay, congenital microcephaly, intractable epilepsy, and renal anomalies, as well as a congenital choledochal cyst which has not been previously reported in other patients with this cytogenetic defect to Dysmorphic features, moderate to severe intellectual disability, microcephaly and renal anomalies
02 Feb 2023	Intellectual disability - microarray and sequencing v4.54	ISCA-46553-Loss	Arina Puzriakova reviewed Region: ISCA-46553-Loss: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
02 Feb 2023	Intellectual disability - microarray and sequencing v4.54	ISCA-46742-Loss	Arina Puzriakova reviewed Region: ISCA-46742-Loss: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
02 Feb 2023	Intellectual disability - microarray and sequencing v4.54	ISCA-46297-Loss	Arina Puzriakova reviewed Region: ISCA-46297-Loss: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
02 Feb 2023	Intellectual disability - microarray and sequencing v4.54	ISCA-37495-Loss	Arina Puzriakova reviewed Region: ISCA-37495-Loss: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
02 Feb 2023	Intellectual disability - microarray and sequencing v4.54	ISCA-46304-Gain	Arina Puzriakova reviewed Region: ISCA-46304-Gain: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
02 Feb 2023	Intellectual disability - microarray and sequencing v4.54	ISCA-37423-Loss	Arina Puzriakova edited their review of Region: ISCA-37423-Loss: Added comment: Following Genomics England clinical review and NHS Genomic Medicine Service approval, the genomic coordinates of this region were updated based on ClinGen Region Curation Results (version on 05 Aug 2022).; Changed rating: GREEN
02 Feb 2023	Intellectual disability - microarray and sequencing v4.54	ISCA-37423-Gain	Arina Puzriakova edited their review of Region: ISCA-37423-Gain: Added comment: Following Genomics England clinical review and NHS Genomic Medicine Service approval, the genomic coordinates and triplosensitivity score (from 3 to 2) of this region were updated based on ClinGen Region Curation Results (version on 05 Aug 2022). Regardless of the change in triplosensitivity score, it was deemed appropriate for this regions to remain green as evidence to support pathogenicity remains.; Changed rating: GREEN
02 Feb 2023	Intellectual disability - microarray and sequencing v4.54	ISCA-46553-Loss	Arina Puzriakova Region: ISCA-46553-Loss was added Region: ISCA-46553-Loss was added to Intellectual disability. Sources: Expert Review Green,ClinGen Mode of inheritance for Region: ISCA-46553-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for Region: ISCA-46553-Loss were set to 21204220; 15338008; 22067867; 21471554; 28503614
02 Feb 2023	Intellectual disability - microarray and sequencing v4.54	ISCA-46742-Loss	Arina Puzriakova Region: ISCA-46742-Loss was added Region: ISCA-46742-Loss was added to Intellectual disability. Sources: Expert Review Green,ClinGen Mode of inheritance for Region: ISCA-46742-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for Region: ISCA-46742-Loss were set to 27633570; 32562408; 29274487; 29220674
02 Feb 2023	Intellectual disability - microarray and sequencing v4.54	ISCA-46297-Loss	Arina Puzriakova Region: ISCA-46297-Loss was added Region: ISCA-46297-Loss was added to Intellectual disability. Sources: Expert Review Green,ClinGen Mode of inheritance for Region: ISCA-46297-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for Region: ISCA-46297-Loss were set to 31204719; 19888295; 20301607; 25719193; 30836598
02 Feb 2023	Intellectual disability - microarray and sequencing v4.54	ISCA-37495-Loss	Arina Puzriakova Region: ISCA-37495-Loss was added Region: ISCA-37495-Loss was added to Intellectual disability. Sources: Expert Review Green,ClinGen Mode of inheritance for Region: ISCA-37495-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for Region: ISCA-37495-Loss were set to 26227573
02 Feb 2023	Intellectual disability - microarray and sequencing v4.54	ISCA-46304-Gain	Arina Puzriakova Region: ISCA-46304-Gain was added Region: ISCA-46304-Gain was added to Intellectual disability. Sources: Expert Review Green,ClinGen Mode of inheritance for Region: ISCA-46304-Gain was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for Region: ISCA-46304-Gain were set to 22679399; 29141583; 29618507; 32043567
02 Feb 2023	Intellectual disability - microarray and sequencing v4.54	ISCA-37423-Loss	Arina Puzriakova GRCh38 position for ISCA-37423-Loss was changed from 8261773-11908210 to 8242542-11908820.
02 Feb 2023	Intellectual disability - microarray and sequencing v4.54	ISCA-37423-Gain	Arina Puzriakova GRCh38 position for ISCA-37423-Gain was changed from 8261773-11908210 to 8242542-11908820. Triplosensitivity Score for ISCA-37423-Gain was changed from 3 to 2.
31 Jan 2023	Intellectual disability - microarray and sequencing v4.53	CUX2	Arina Puzriakova Tag Q3_21_NHS_review was removed from gene: CUX2.
31 Jan 2023	Intellectual disability - microarray and sequencing v4.53	RAP1GDS1	Arina Puzriakova Tag Q3_22_rating was removed from gene: RAP1GDS1. Tag Q3_22_expert_review was removed from gene: RAP1GDS1.
31 Jan 2023	Intellectual disability - microarray and sequencing v4.53	ZC4H2	Arina Puzriakova Tag Q4_21_MOI was removed from gene: ZC4H2.
31 Jan 2023	Intellectual disability - microarray and sequencing v4.53	PRODH	Arina Puzriakova Tag Q2_22_rating was removed from gene: PRODH. Tag Q2_22_expert_review was removed from gene: PRODH. Tag Q2_22_NHS_review was removed from gene: PRODH.
31 Jan 2023	Intellectual disability - microarray and sequencing v4.53	ZBTB7A	Arina Puzriakova Tag Q2_22_rating was removed from gene: ZBTB7A. Tag Q2_22_NHS_review was removed from gene: ZBTB7A.
31 Jan 2023	Intellectual disability - microarray and sequencing v4.53	THUMPD1	Arina Puzriakova Tag Q2_22_rating was removed from gene: THUMPD1. Tag Q2_22_NHS_review was removed from gene: THUMPD1.
31 Jan 2023	Intellectual disability - microarray and sequencing v4.53	SRRM2	Arina Puzriakova Tag Q2_22_rating was removed from gene: SRRM2.
31 Jan 2023	Intellectual disability - microarray and sequencing v4.53	SPRED2	Arina Puzriakova Tag Q1_22_rating was removed from gene: SPRED2.
31 Jan 2023	Intellectual disability - microarray and sequencing v4.53	SPATA5L1	Arina Puzriakova Tag Q1_22_rating was removed from gene: SPATA5L1.
31 Jan 2023	Intellectual disability - microarray and sequencing v4.53	SNORD118	Arina Puzriakova Tag Q2_22_rating was removed from gene: SNORD118. Tag Q2_22_NHS_review was removed from gene: SNORD118.
31 Jan 2023	Intellectual disability - microarray and sequencing v4.53	SLC12A5	Arina Puzriakova Tag Q1_22_MOI was removed from gene: SLC12A5.
31 Jan 2023	Intellectual disability - microarray and sequencing v4.53	SCAF4	Arina Puzriakova Tag Q2_22_rating was removed from gene: SCAF4. Tag Q2_22_NHS_review was removed from gene: SCAF4.
31 Jan 2023	Intellectual disability - microarray and sequencing v4.53	PRPF8	Arina Puzriakova Tag Q2_22_rating was removed from gene: PRPF8.
31 Jan 2023	Intellectual disability - microarray and sequencing v4.53	PHF14	Arina Puzriakova Tag Q2_22_rating was removed from gene: PHF14.
31 Jan 2023	Intellectual disability - microarray and sequencing v4.53	PEX6	Arina Puzriakova Tag Q1_22_MOI was removed from gene: PEX6.
31 Jan 2023	Intellectual disability - microarray and sequencing v4.53	NAPB	Arina Puzriakova Tag Q2_22_rating was removed from gene: NAPB. Tag Q2_22_NHS_review was removed from gene: NAPB.
31 Jan 2023	Intellectual disability - microarray and sequencing v4.53	MED13	Arina Puzriakova Tag Q2_22_rating was removed from gene: MED13. Tag Q2_22_NHS_review was removed from gene: MED13.
31 Jan 2023	Intellectual disability - microarray and sequencing v4.53	KDM5C	Arina Puzriakova Tag Q3_21_MOI was removed from gene: KDM5C.
31 Jan 2023	Intellectual disability - microarray and sequencing v4.53	HSPD1	Arina Puzriakova Tag Q2_22_MOI was removed from gene: HSPD1.
31 Jan 2023	Intellectual disability - microarray and sequencing v4.53	DTYMK	Arina Puzriakova Tag Q2_22_rating was removed from gene: DTYMK.
31 Jan 2023	Intellectual disability - microarray and sequencing v4.53	DROSHA	Arina Puzriakova Tag Q2_22_rating was removed from gene: DROSHA.
31 Jan 2023	Intellectual disability - microarray and sequencing v4.53	DHDDS	Arina Puzriakova Tag Q4_21_MOI was removed from gene: DHDDS.
31 Jan 2023	Intellectual disability - microarray and sequencing v4.53	COG5	Arina Puzriakova Tag Q3_21_MOI was removed from gene: COG5.
31 Jan 2023	Intellectual disability - microarray and sequencing v4.53	CELF2	Arina Puzriakova Tag Q2_22_rating was removed from gene: CELF2. Tag Q2_22_NHS_review was removed from gene: CELF2.
31 Jan 2023	Intellectual disability - microarray and sequencing v4.53	CACNA2D1	Arina Puzriakova Tag Q2_22_rating was removed from gene: CACNA2D1.
31 Jan 2023	Intellectual disability - microarray and sequencing v4.53	BSCL2	Arina Puzriakova Tag Q3_21_MOI was removed from gene: BSCL2.
31 Jan 2023	Intellectual disability - microarray and sequencing v4.53	ARHGEF9	Arina Puzriakova Tag Q3_21_MOI was removed from gene: ARHGEF9.
31 Jan 2023	Intellectual disability - microarray and sequencing v4.53	AP1S2	Arina Puzriakova Tag Q4_21_MOI was removed from gene: AP1S2.
31 Jan 2023	Intellectual disability - microarray and sequencing v4.53	AFF3	Arina Puzriakova Tag for-review was removed from gene: AFF3.
31 Jan 2023	Intellectual disability - microarray and sequencing v4.53	ACO2	Arina Puzriakova Tag Q2_22_MOI was removed from gene: ACO2.
31 Jan 2023	Intellectual disability - microarray and sequencing v4.53	ACER3	Arina Puzriakova Tag Q1_22_rating was removed from gene: ACER3.
31 Jan 2023	Intellectual disability - microarray and sequencing v4.53	ZMYM2	Arina Puzriakova Tag Q3_22_rating was removed from gene: ZMYM2. Tag Q3_22_NHS_review was removed from gene: ZMYM2.
31 Jan 2023	Intellectual disability - microarray and sequencing v4.53	WNK3	Arina Puzriakova Tag Q3_22_rating was removed from gene: WNK3.
31 Jan 2023	Intellectual disability - microarray and sequencing v4.53	TPP2	Arina Puzriakova Tag Q3_22_rating was removed from gene: TPP2.
31 Jan 2023	Intellectual disability - microarray and sequencing v4.53	TMEM63C	Arina Puzriakova Tag Q3_22_rating was removed from gene: TMEM63C.
31 Jan 2023	Intellectual disability - microarray and sequencing v4.53	TIAM1	Arina Puzriakova Tag Q3_22_rating was removed from gene: TIAM1. Tag Q3_22_MOI was removed from gene: TIAM1.
31 Jan 2023	Intellectual disability - microarray and sequencing v4.53	TAF8	Arina Puzriakova Tag Q3_22_rating was removed from gene: TAF8. Tag Q3_22_NHS_review was removed from gene: TAF8.
30 Jan 2023	Intellectual disability - microarray and sequencing v4.53	STT3A	Arina Puzriakova Tag Q3_22_MOI was removed from gene: STT3A. Tag Q3_22_NHS_review was removed from gene: STT3A.
30 Jan 2023	Intellectual disability - microarray and sequencing v4.53	SLC38A3	Arina Puzriakova Tag Q3_22_rating was removed from gene: SLC38A3.
30 Jan 2023	Intellectual disability - microarray and sequencing v4.53	SCAMP5	Arina Puzriakova Tag Q3_22_rating was removed from gene: SCAMP5.
30 Jan 2023	Intellectual disability - microarray and sequencing v4.53	RAB11A	Arina Puzriakova Tag watchlist was removed from gene: RAB11A. Tag Q3_22_rating was removed from gene: RAB11A.
30 Jan 2023	Intellectual disability - microarray and sequencing v4.53	PRDM13	Arina Puzriakova Tag Q3_22_rating was removed from gene: PRDM13.
30 Jan 2023	Intellectual disability - microarray and sequencing v4.53	POLRMT	Arina Puzriakova Tag Q3_22_rating was removed from gene: POLRMT.
30 Jan 2023	Intellectual disability - microarray and sequencing v4.53	PDZD8	Arina Puzriakova Tag Q3_22_rating was removed from gene: PDZD8.
30 Jan 2023	Intellectual disability - microarray and sequencing v4.53	OGDHL	Arina Puzriakova Tag Q3_22_rating was removed from gene: OGDHL.
30 Jan 2023	Intellectual disability - microarray and sequencing v4.53	NSRP1	Arina Puzriakova Tag Q3_22_rating was removed from gene: NSRP1.
30 Jan 2023	Intellectual disability - microarray and sequencing v4.53	NRCAM	Arina Puzriakova Tag Q3_22_rating was removed from gene: NRCAM.
30 Jan 2023	Intellectual disability - microarray and sequencing v4.53	HMGB1	Arina Puzriakova Tag Q3_22_rating was removed from gene: HMGB1.
30 Jan 2023	Intellectual disability - microarray and sequencing v4.53	HK1	Arina Puzriakova Tag Q3_22_MOI was removed from gene: HK1. Tag Q3_22_NHS_review was removed from gene: HK1.
30 Jan 2023	Intellectual disability - microarray and sequencing v4.53	GLRA2	Arina Puzriakova Tag Q3_22_rating was removed from gene: GLRA2.
30 Jan 2023	Intellectual disability - microarray and sequencing v4.53	FBXW7	Arina Puzriakova Tag Q3_22_rating was removed from gene: FBXW7. Tag Q3_22_MOI was removed from gene: FBXW7.
30 Jan 2023	Intellectual disability - microarray and sequencing v4.53	FBXO28	Arina Puzriakova Tag Q3_22_rating was removed from gene: FBXO28. Tag Q3_22_MOI was removed from gene: FBXO28.
30 Jan 2023	Intellectual disability - microarray and sequencing v4.53	EMC1	Arina Puzriakova Tag Q3_22_MOI was removed from gene: EMC1.
30 Jan 2023	Intellectual disability - microarray and sequencing v4.53	EDEM3	Arina Puzriakova Tag Q3_22_rating was removed from gene: EDEM3.
30 Jan 2023	Intellectual disability - microarray and sequencing v4.53	DOCK8	Arina Puzriakova Tag Q3_22_rating was removed from gene: DOCK8. Tag Q3_22_MOI was removed from gene: DOCK8. Tag Q3_22_NHS_review was removed from gene: DOCK8. Tag Q3_22_expert_review was removed from gene: DOCK8.
30 Jan 2023	Intellectual disability - microarray and sequencing v4.53	CUL3	Arina Puzriakova Tag Q3_22_rating was removed from gene: CUL3. Tag Q3_22_NHS_review was removed from gene: CUL3.
30 Jan 2023	Intellectual disability - microarray and sequencing v4.53	CHKA	Arina Puzriakova Tag Q3_22_rating was removed from gene: CHKA.
30 Jan 2023	Intellectual disability - microarray and sequencing v4.53	CCDC32	Arina Puzriakova Tag watchlist was removed from gene: CCDC32. Tag Q3_22_rating was removed from gene: CCDC32.
30 Jan 2023	Intellectual disability - microarray and sequencing v4.53	CACNA1A	Arina Puzriakova Tag Q3_22_MOI was removed from gene: CACNA1A.
30 Jan 2023	Intellectual disability - microarray and sequencing v4.53	BLOC1S1	Arina Puzriakova Tag Q3_22_rating was removed from gene: BLOC1S1.
30 Jan 2023	Intellectual disability - microarray and sequencing v4.53	ATP6V0A1	Arina Puzriakova Tag Q3_22_rating was removed from gene: ATP6V0A1. Tag Q3_22_NHS_review was removed from gene: ATP6V0A1.
30 Jan 2023	Intellectual disability - microarray and sequencing v4.53	ATP2B1	Arina Puzriakova Tag Q3_22_rating was removed from gene: ATP2B1.
30 Jan 2023	Intellectual disability - microarray and sequencing v4.53	ATG7	Arina Puzriakova Tag Q3_22_rating was removed from gene: ATG7.
30 Jan 2023	Intellectual disability - microarray and sequencing v4.53	ANK3	Arina Puzriakova Tag Q3_22_rating was removed from gene: ANK3. Tag Q3_22_MOI was removed from gene: ANK3. Tag Q3_22_NHS_review was removed from gene: ANK3.
30 Jan 2023	Intellectual disability - microarray and sequencing v4.53	ALKBH8	Arina Puzriakova Tag Q3_22_rating was removed from gene: ALKBH8.
30 Jan 2023	Intellectual disability - microarray and sequencing v4.53	ADD1	Arina Puzriakova Tag Q3_22_rating was removed from gene: ADD1.
30 Jan 2023	Intellectual disability - microarray and sequencing v4.53	PHF14	Arina Puzriakova reviewed gene: PHF14: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
30 Jan 2023	Intellectual disability - microarray and sequencing v4.53	DROSHA	Arina Puzriakova reviewed gene: DROSHA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
30 Jan 2023	Intellectual disability - microarray and sequencing v4.53	RAP1GDS1	Arina Puzriakova edited their review of gene: RAP1GDS1: Added comment: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed and remains Amber.; Changed rating: AMBER
30 Jan 2023	Intellectual disability - microarray and sequencing v4.53	PRODH	Arina Puzriakova reviewed gene: PRODH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
30 Jan 2023	Intellectual disability - microarray and sequencing v4.53	ZC4H2	Arina Puzriakova commented on gene: ZC4H2
30 Jan 2023	Intellectual disability - microarray and sequencing v4.53	ZBTB7A	Arina Puzriakova reviewed gene: ZBTB7A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
30 Jan 2023	Intellectual disability - microarray and sequencing v4.53	THUMPD1	Arina Puzriakova reviewed gene: THUMPD1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
30 Jan 2023	Intellectual disability - microarray and sequencing v4.53	SRRM2	Arina Puzriakova reviewed gene: SRRM2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
30 Jan 2023	Intellectual disability - microarray and sequencing v4.53	SPRED2	Arina Puzriakova reviewed gene: SPRED2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
30 Jan 2023	Intellectual disability - microarray and sequencing v4.53	SPATA5L1	Arina Puzriakova reviewed gene: SPATA5L1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
30 Jan 2023	Intellectual disability - microarray and sequencing v4.53	SNORD118	Arina Puzriakova reviewed gene: SNORD118: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
30 Jan 2023	Intellectual disability - microarray and sequencing v4.53	SLC12A5	Arina Puzriakova commented on gene: SLC12A5
30 Jan 2023	Intellectual disability - microarray and sequencing v4.53	SCAF4	Arina Puzriakova edited their review of gene: SCAF4: Added comment: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.; Changed rating: GREEN
30 Jan 2023	Intellectual disability - microarray and sequencing v4.53	PRPF8	Arina Puzriakova reviewed gene: PRPF8: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
30 Jan 2023	Intellectual disability - microarray and sequencing v4.53	PEX6	Arina Puzriakova commented on gene: PEX6
30 Jan 2023	Intellectual disability - microarray and sequencing v4.53	NAPB	Arina Puzriakova edited their review of gene: NAPB: Added comment: The rating of this gene has been updated to Green and the mode of inheritance set to 'BIALLELIC, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.; Changed rating: GREEN
30 Jan 2023	Intellectual disability - microarray and sequencing v4.53	MED13	Arina Puzriakova reviewed gene: MED13: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
30 Jan 2023	Intellectual disability - microarray and sequencing v4.53	KDM5C	Arina Puzriakova commented on gene: KDM5C: The mode of inheritance of this gene has been updated to 'X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)' following NHS Genomic Medicine Service approval.
30 Jan 2023	Intellectual disability - microarray and sequencing v4.53	HSPD1	Arina Puzriakova commented on gene: HSPD1: The mode of inheritance of this gene has been updated to 'BIALLELIC, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.
30 Jan 2023	Intellectual disability - microarray and sequencing v4.53	DTYMK	Arina Puzriakova reviewed gene: DTYMK: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
30 Jan 2023	Intellectual disability - microarray and sequencing v4.53	DHDDS	Arina Puzriakova commented on gene: DHDDS: The mode of inheritance of this gene has been updated to 'MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted' following NHS Genomic Medicine Service approval.
30 Jan 2023	Intellectual disability - microarray and sequencing v4.53	COG5	Arina Puzriakova commented on gene: COG5
30 Jan 2023	Intellectual disability - microarray and sequencing v4.53	CELF2	Arina Puzriakova edited their review of gene: CELF2: Added comment: The rating of this gene has been updated to Green and the mode of inheritance set to 'MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted' following NHS Genomic Medicine Service approval.; Changed rating: GREEN
30 Jan 2023	Intellectual disability - microarray and sequencing v4.53	CACNA2D1	Arina Puzriakova reviewed gene: CACNA2D1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
30 Jan 2023	Intellectual disability - microarray and sequencing v4.53	BSCL2	Arina Puzriakova commented on gene: BSCL2: The mode of inheritance of this gene has been updated to 'BIALLELIC, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.
30 Jan 2023	Intellectual disability - microarray and sequencing v4.53	ARHGEF9	Arina Puzriakova commented on gene: ARHGEF9: The mode of inheritance of this gene has been updated to 'X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)' following NHS Genomic Medicine Service approval.
30 Jan 2023	Intellectual disability - microarray and sequencing v4.53	AP1S2	Arina Puzriakova commented on gene: AP1S2: The mode of inheritance of this gene has been updated to 'X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)' following NHS Genomic Medicine Service approval.
30 Jan 2023	Intellectual disability - microarray and sequencing v4.53	AFF3	Arina Puzriakova edited their review of gene: AFF3: Added comment: The rating of this gene has been updated to Green and the mode of inheritance updated to 'MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown' following NHS Genomic Medicine Service approval.; Changed rating: GREEN
30 Jan 2023	Intellectual disability - microarray and sequencing v4.53	ACO2	Arina Puzriakova commented on gene: ACO2
30 Jan 2023	Intellectual disability - microarray and sequencing v4.53	ACER3	Arina Puzriakova commented on gene: ACER3: The rating of this gene has been updated to Green and the mode of inheritance set to 'BIALLELIC, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.
30 Jan 2023	Intellectual disability - microarray and sequencing v4.53	ZMYM2	Arina Puzriakova reviewed gene: ZMYM2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
30 Jan 2023	Intellectual disability - microarray and sequencing v4.53	WNK3	Arina Puzriakova commented on gene: WNK3: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.
30 Jan 2023	Intellectual disability - microarray and sequencing v4.53	TPP2	Arina Puzriakova reviewed gene: TPP2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
30 Jan 2023	Intellectual disability - microarray and sequencing v4.53	TMEM63C	Arina Puzriakova reviewed gene: TMEM63C: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
30 Jan 2023	Intellectual disability - microarray and sequencing v4.53	TIAM1	Arina Puzriakova reviewed gene: TIAM1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
30 Jan 2023	Intellectual disability - microarray and sequencing v4.53	TAF8	Arina Puzriakova edited their review of gene: TAF8: Added comment: The rating of this gene has been updated to Green and the mode of inheritance set to 'BIALLELIC, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.; Changed rating: GREEN
30 Jan 2023	Intellectual disability - microarray and sequencing v4.53	STT3A	Arina Puzriakova commented on gene: STT3A: The mode of inheritance of this gene has been updated to 'BOTH monoallelic and biallelic, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.
30 Jan 2023	Intellectual disability - microarray and sequencing v4.53	SLC38A3	Arina Puzriakova reviewed gene: SLC38A3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
30 Jan 2023	Intellectual disability - microarray and sequencing v4.53	SCAMP5	Arina Puzriakova reviewed gene: SCAMP5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
30 Jan 2023	Intellectual disability - microarray and sequencing v4.53	RAB11A	Arina Puzriakova reviewed gene: RAB11A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
30 Jan 2023	Intellectual disability - microarray and sequencing v4.53	PRDM13	Arina Puzriakova reviewed gene: PRDM13: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
30 Jan 2023	Intellectual disability - microarray and sequencing v4.53	POLRMT	Arina Puzriakova edited their review of gene: POLRMT: Added comment: The rating of this gene has been updated to Green and the mode of inheritance set to 'BOTH monoallelic and biallelic, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.; Changed rating: GREEN
30 Jan 2023	Intellectual disability - microarray and sequencing v4.53	PDZD8	Arina Puzriakova reviewed gene: PDZD8: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
30 Jan 2023	Intellectual disability - microarray and sequencing v4.53	OGDHL	Arina Puzriakova edited their review of gene: OGDHL: Added comment: The rating of this gene has been updated to Green and the mode of inheritance set to 'BIALLELIC, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.; Changed rating: GREEN
30 Jan 2023	Intellectual disability - microarray and sequencing v4.53	NSRP1	Arina Puzriakova edited their review of gene: NSRP1: Added comment: The rating of this gene has been updated to Green and the mode of inheritance set to 'BIALLELIC, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.; Changed rating: GREEN
30 Jan 2023	Intellectual disability - microarray and sequencing v4.53	NRCAM	Arina Puzriakova reviewed gene: NRCAM: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
30 Jan 2023	Intellectual disability - microarray and sequencing v4.53	HMGB1	Arina Puzriakova edited their review of gene: HMGB1: Added comment: The rating of this gene has been updated to Green and the mode of inheritance set to 'MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted' following NHS Genomic Medicine Service approval.; Changed rating: GREEN
30 Jan 2023	Intellectual disability - microarray and sequencing v4.53	HK1	Arina Puzriakova commented on gene: HK1
30 Jan 2023	Intellectual disability - microarray and sequencing v4.53	GLRA2	Arina Puzriakova reviewed gene: GLRA2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
30 Jan 2023	Intellectual disability - microarray and sequencing v4.53	FBXW7	Arina Puzriakova reviewed gene: FBXW7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
30 Jan 2023	Intellectual disability - microarray and sequencing v4.53	FBXO28	Arina Puzriakova reviewed gene: FBXO28: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
30 Jan 2023	Intellectual disability - microarray and sequencing v4.53	EMC1	Arina Puzriakova commented on gene: EMC1
30 Jan 2023	Intellectual disability - microarray and sequencing v4.53	EDEM3	Arina Puzriakova edited their review of gene: EDEM3: Added comment: The rating of this gene has been updated to Green and the mode of inheritance set to 'BIALLELIC, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.; Changed rating: GREEN
30 Jan 2023	Intellectual disability - microarray and sequencing v4.53	DOCK8	Arina Puzriakova reviewed gene: DOCK8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
30 Jan 2023	Intellectual disability - microarray and sequencing v4.53	CUL3	Arina Puzriakova edited their review of gene: CUL3: Added comment: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.; Changed rating: GREEN
30 Jan 2023	Intellectual disability - microarray and sequencing v4.53	CHKA	Arina Puzriakova reviewed gene: CHKA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
30 Jan 2023	Intellectual disability - microarray and sequencing v4.53	CCDC32	Arina Puzriakova reviewed gene: CCDC32: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
30 Jan 2023	Intellectual disability - microarray and sequencing v4.53	CACNA1A	Arina Puzriakova commented on gene: CACNA1A
30 Jan 2023	Intellectual disability - microarray and sequencing v4.53	BLOC1S1	Arina Puzriakova edited their review of gene: BLOC1S1: Added comment: The rating of this gene has been updated to Green and the mode of inheritance set to 'BIALLELIC, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.; Changed rating: GREEN
30 Jan 2023	Intellectual disability - microarray and sequencing v4.53	ATP6V0A1	Arina Puzriakova reviewed gene: ATP6V0A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
30 Jan 2023	Intellectual disability - microarray and sequencing v4.53	ATP2B1	Arina Puzriakova reviewed gene: ATP2B1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
30 Jan 2023	Intellectual disability - microarray and sequencing v4.53	ATG7	Arina Puzriakova edited their review of gene: ATG7: Added comment: The rating of this gene has been updated to Green and the mode of inheritance set to 'BIALLELIC, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.; Changed rating: GREEN

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