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Growth failure v1.76 LIG4 Santosh Varughese reviewed gene: LIG4: 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: 16088910, 9823897, 10911993, 15333585, 9809069, 12023982, 11040211, , images, related citations] [Full Text] 15175260, 19451691, 17554302; Phenotypes: LIG4 syndrome, MULTIPLE MYELOMA, RESISTANCE TO; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Growth failure v1.76 FOSL2 Zornitza Stark Phenotypes for gene: FOSL2 were changed from Neurodevelopmental disorder, MONDO:0700092, FOSL2-related to Aplasia cutis-enamel dysplasia syndrome, MIM# 620789
Growth failure v1.75 FOSL2 Zornitza Stark reviewed gene: FOSL2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Aplasia cutis-enamel dysplasia syndrome, MIM# 620789; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Growth failure v1.75 CEP295 Zornitza Stark Marked gene: CEP295 as ready
Growth failure v1.75 CEP295 Zornitza Stark Gene: cep295 has been classified as Green List (High Evidence).
Growth failure v1.75 CEP295 Chirag Patel Classified gene: CEP295 as Green List (high evidence)
Growth failure v1.75 CEP295 Chirag Patel Gene: cep295 has been classified as Green List (High Evidence).
Growth failure v1.74 CEP295 Chirag Patel gene: CEP295 was added
gene: CEP295 was added to Growth failure. Sources: Literature
Mode of inheritance for gene: CEP295 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CEP295 were set to PMID: 38154379
Phenotypes for gene: CEP295 were set to Seckel syndrome 11, OMIM # 620767
Review for gene: CEP295 was set to GREEN
gene: CEP295 was marked as current diagnostic
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: Literature
Growth failure v1.73 RAP1B Zornitza Stark Phenotypes for gene: RAP1B were changed from Syndromic disease, MONDO:0002254, RAP1B-related to Thrombocytopenia 1 with multiple congenital anomalies and dysmorphic facies, MIM# 620654
Growth failure v1.72 RAP1B Zornitza Stark edited their review of gene: RAP1B: Changed phenotypes: Thrombocytopenia 1 with multiple congenital anomalies and dysmorphic facies, MIM# 620654
Growth failure v1.72 DRG1 Zornitza Stark Phenotypes for gene: DRG1 were changed from Neurodevelopmental disorder (MONDO:0700092), DRG1-related to Tan-Almurshedi syndrome, MIM# 620641
Growth failure v1.71 WBP4 Zornitza Stark Marked gene: WBP4 as ready
Growth failure v1.71 WBP4 Zornitza Stark Gene: wbp4 has been classified as Green List (High Evidence).
Growth failure v1.71 WBP4 Zornitza Stark Classified gene: WBP4 as Green List (high evidence)
Growth failure v1.71 WBP4 Zornitza Stark Gene: wbp4 has been classified as Green List (High Evidence).
Growth failure v1.70 WBP4 Lilian Downie gene: WBP4 was added
gene: WBP4 was added to Growth failure. Sources: Literature
Mode of inheritance for gene: WBP4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: WBP4 were set to PMID: 37425688
Phenotypes for gene: WBP4 were set to Neurodevelopmental disorder, MONDO:0700092, WBP4-related
Review for gene: WBP4 was set to GREEN
Added comment: 11 individuals from 8 families, IUGR and postnatal growth restriction reported
Sources: Literature
Growth failure v1.70 ATRX Zornitza Stark Phenotypes for gene: ATRX were changed from Alpha-thalassemia/mental retardation syndrome, MIM# 301040; Mental retardation-hypotonic facies syndrome, X-linked, MIM# 309580 to ATR-X-related syndrome MONDO:0016980
Growth failure v1.69 ATRX Zornitza Stark edited their review of gene: ATRX: Changed phenotypes: ATR-X-related syndrome MONDO:0016980
Growth failure v1.69 SLC30A7 Zornitza Stark Marked gene: SLC30A7 as ready
Growth failure v1.69 SLC30A7 Zornitza Stark Gene: slc30a7 has been classified as Red List (Low Evidence).
Growth failure v1.69 SLC30A7 Zornitza Stark gene: SLC30A7 was added
gene: SLC30A7 was added to Growth failure. Sources: Expert Review
Mode of inheritance for gene: SLC30A7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC30A7 were set to 36821639
Phenotypes for gene: SLC30A7 were set to Ziegler-Huang syndrome, MIM# 620501
Review for gene: SLC30A7 was set to RED
Added comment: Two sibs reported with compound het variants in this gene and severe growth failure, testicular hypoplasia and progressive bone marrow failure.
Sources: Expert Review
Growth failure v1.68 RAP1B Zornitza Stark Phenotypes for gene: RAP1B were changed from Syndromic intellectual disability; short stature to Syndromic disease, MONDO:0002254, RAP1B-related
Growth failure v1.67 RAP1B Zornitza Stark edited their review of gene: RAP1B: Changed phenotypes: Syndromic disease, MONDO:0002254, RAP1B-related
Growth failure v1.67 DCAF15 Zornitza Stark Marked gene: DCAF15 as ready
Growth failure v1.67 DCAF15 Zornitza Stark Gene: dcaf15 has been classified as Amber List (Moderate Evidence).
Growth failure v1.67 DCAF15 Zornitza Stark Phenotypes for gene: DCAF15 were changed from Cornelia de Lange syndrome to Cornelia de Lange syndrome, MONDO:0016033, DCAF15-related
Growth failure v1.66 DCAF15 Chirag Patel Classified gene: DCAF15 as Amber List (moderate evidence)
Growth failure v1.66 DCAF15 Chirag Patel Gene: dcaf15 has been classified as Amber List (Moderate Evidence).
Growth failure v1.65 DCAF15 Chirag Patel gene: DCAF15 was added
gene: DCAF15 was added to Growth failure. Sources: Other
Mode of inheritance for gene: DCAF15 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DCAF15 were set to Cornelia de Lange syndrome
Review for gene: DCAF15 was set to AMBER
Added comment: ESHG 2023:
3 unrelated cases with CdLS (1 x TOP with MCA, 1 x death @20mths, 1 x living child)
Features suggestive of CdLS - DD, microcephaly, CHD, dysmorphism, visual/hearing impairment.

WES identified recurrent de novo variant (p.Ser470Phe) in DCAF15 gene. This mediates ubiquitination and degradation of target proteins, and interacts with cohesin complex members (SMC1/SMC3).

Protein analysis from individuals showed increased accumulation of ubiquitination-modified proteins and SM3 (GOF mechanism). EpiSign analysis showed same DNA methylation pattern as other CdLS cases/genes. Zebrafish model showed reduced body length, reduced head size, reduced oligodendrocytes, heart defect, aberrant motor neurons, and abnormal response to visual/auditory stimuli.
Sources: Other
Growth failure v1.64 DRG1 Krithika Murali Classified gene: DRG1 as Green List (high evidence)
Growth failure v1.64 DRG1 Krithika Murali Gene: drg1 has been classified as Green List (High Evidence).
Growth failure v1.63 DRG1 Krithika Murali Marked gene: DRG1 as ready
Growth failure v1.63 DRG1 Krithika Murali Gene: drg1 has been removed from the panel.
Growth failure v1.63 DRG1 Krithika Murali Marked gene: DRG1 as ready
Growth failure v1.63 DRG1 Krithika Murali Gene: drg1 has been removed from the panel.
Growth failure v1.63 DRG1 Dean Phelan gene: DRG1 was added
gene: DRG1 was added to Growth failure. Sources: Literature
Mode of inheritance for gene: DRG1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DRG1 were set to PMID: 37179472
Phenotypes for gene: DRG1 were set to Neurodevelopmental disorder (MONDO:0700092), DRG1-related
Review for gene: DRG1 was set to GREEN
Added comment: PMID: 37179472
- Biallelic variants were identified in four affected individuals from three distinct families with neurodevelopmental disorder with global developmental delay, primary microcephaly, short stature and craniofacial anomalies. Functional studies show the variants result in a loss of function.
Sources: Literature
Growth failure v1.63 Bryony Thompson Panel types changed to Victorian Clinical Genetics Services; Genetic Health Queensland; Royal Melbourne Hospital; Rare Disease
Growth failure v1.62 CRIPT Zornitza Stark Phenotypes for gene: CRIPT were changed from Short stature with microcephaly and distinctive facies (MIM#615789) to Short stature with microcephaly and distinctive facies (MIM#615789); Rothmund-Thomson syndrome MONDO:0010002
Growth failure v1.61 CRIPT Zornitza Stark Publications for gene: CRIPT were set to 24389050; 27250922
Growth failure v1.60 CRIPT Zornitza Stark Classified gene: CRIPT as Green List (high evidence)
Growth failure v1.60 CRIPT Zornitza Stark Gene: cript has been classified as Green List (High Evidence).
Growth failure v1.59 CRIPT Karina Sandoval reviewed gene: CRIPT: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 37013901; Phenotypes: Short stature with microcephaly and distinctive facies (MIM#615789), Rothmund-Thomson syndrome MONDO:0010002; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Growth failure v1.59 CRIPT Suliman Khan reviewed gene: CRIPT: Rating: ; Mode of pathogenicity: None; Publications: PMID: 36630262; Phenotypes: Short stature with microcephaly and distinctive facies; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Growth failure v1.59 ZNF668 Zornitza Stark Phenotypes for gene: ZNF668 were changed from DNA damage repair defect; microcephaly; growth deficiency; severe global developmental delay; brain malformation; facial dysmorphism to Neurodevelopmental disorder with poor growth, large ears, and dysmorphic facies, MIM# 620194
Growth failure v1.58 SMC5 Zornitza Stark Phenotypes for gene: SMC5 were changed from Multiple congenital anomalies/dysmorphic syndrome, MONDO:0019042, SLF2-related; Atelis syndrome; microcephaly; short stature; ID to Atelis syndrome 2, MIM# 620185
Growth failure v1.57 SMC5 Zornitza Stark edited their review of gene: SMC5: Changed phenotypes: Atelis syndrome 2, MIM# 620185
Growth failure v1.57 SLF2 Zornitza Stark Phenotypes for gene: SLF2 were changed from Multiple congenital anomalies/dysmorphic syndrome, MONDO:0019042, SLF2-related; Atelis syndrome; microcephaly; short stature; ID to Atelis syndrome 1, MIM# 620184
Growth failure v1.56 SLF2 Zornitza Stark edited their review of gene: SLF2: Changed phenotypes: Atelis syndrome 1, MIM# 620184
Growth failure v1.56 Zornitza Stark HPO terms changed from to Failure to thrive, HP:0001508; Growth delay, HP:0001510
List of related panels changed from to Failure to thrive; HP:0001508; Growth delay; HP:0001510
Growth failure v1.55 SMC5 Zornitza Stark Marked gene: SMC5 as ready
Growth failure v1.55 SMC5 Zornitza Stark Gene: smc5 has been classified as Green List (High Evidence).
Growth failure v1.55 SMC5 Zornitza Stark Classified gene: SMC5 as Green List (high evidence)
Growth failure v1.55 SMC5 Zornitza Stark Gene: smc5 has been classified as Green List (High Evidence).
Growth failure v1.54 SMC5 Zornitza Stark gene: SMC5 was added
gene: SMC5 was added to Growth failure. Sources: Literature
Mode of inheritance for gene: SMC5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SMC5 were set to 36333305
Phenotypes for gene: SMC5 were set to Multiple congenital anomalies/dysmorphic syndrome, MONDO:0019042, SLF2-related; Atelis syndrome; microcephaly; short stature; ID
Review for gene: SMC5 was set to GREEN
Added comment: Four individuals from three families with a chromosome breakage disorder and bi-allelic variants in this gene. However, three of the individuals had the same homozygous missense variant. Evidence for functional impact of the variant was limited. However, zebrafish model recapitulated the phenotype and was not rescued by the introduction of this variant, arguing for functional effect. Borderline Amber/Green.
Sources: Literature
Growth failure v1.53 SLF2 Zornitza Stark Marked gene: SLF2 as ready
Growth failure v1.53 SLF2 Zornitza Stark Gene: slf2 has been classified as Green List (High Evidence).
Growth failure v1.53 SLF2 Zornitza Stark Classified gene: SLF2 as Green List (high evidence)
Growth failure v1.53 SLF2 Zornitza Stark Gene: slf2 has been classified as Green List (High Evidence).
Growth failure v1.52 SLF2 Zornitza Stark gene: SLF2 was added
gene: SLF2 was added to Growth failure. Sources: Literature
Mode of inheritance for gene: SLF2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLF2 were set to 36333305
Phenotypes for gene: SLF2 were set to Multiple congenital anomalies/dysmorphic syndrome, MONDO:0019042, SLF2-related; Atelis syndrome; microcephaly; short stature; ID
Review for gene: SLF2 was set to GREEN
Added comment: Seven individuals from 6 families with a chromosome breakage disorder and bi-allelic variants in this gene (LoF). Functional data including zebrafish model.
Sources: Literature
Growth failure v1.51 UBR1 Zornitza Stark Marked gene: UBR1 as ready
Growth failure v1.51 UBR1 Zornitza Stark Gene: ubr1 has been classified as Green List (High Evidence).
Growth failure v1.51 UBR1 Zornitza Stark Classified gene: UBR1 as Green List (high evidence)
Growth failure v1.51 UBR1 Zornitza Stark Gene: ubr1 has been classified as Green List (High Evidence).
Growth failure v1.50 UBR1 Zornitza Stark gene: UBR1 was added
gene: UBR1 was added to Growth failure. Sources: Expert Review
Mode of inheritance for gene: UBR1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: UBR1 were set to Johanson-Blizzard syndrome, MIM# 243800
Review for gene: UBR1 was set to GREEN
Added comment: Well established gene-disease association. Short stature and growth failure are major features of the condition.
Sources: Expert Review
Growth failure v1.49 SBDS Zornitza Stark Marked gene: SBDS as ready
Growth failure v1.49 SBDS Zornitza Stark Gene: sbds has been classified as Green List (High Evidence).
Growth failure v1.49 SBDS Zornitza Stark Classified gene: SBDS as Green List (high evidence)
Growth failure v1.49 SBDS Zornitza Stark Gene: sbds has been classified as Green List (High Evidence).
Growth failure v1.48 SBDS Zornitza Stark gene: SBDS was added
gene: SBDS was added to Growth failure. Sources: Expert Review
Mode of inheritance for gene: SBDS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SBDS were set to Shwachman-Diamond syndrome 1, MIM# 260400
Review for gene: SBDS was set to GREEN
Added comment: Well established gene-disease association. Short stature and growth failure are major features of the condition.
Sources: Expert Review
Growth failure v1.47 FRA10AC1 Zornitza Stark Phenotypes for gene: FRA10AC1 were changed from Neurodevelopmental disorder, MONDO:0700092, FRA10AC1-related to Neurodevelopmental disorder with growth retardation, dysmorphic facies, and corpus callosum abnormalities, MIM# 620113
Growth failure v1.46 FRA10AC1 Zornitza Stark edited their review of gene: FRA10AC1: Changed phenotypes: Neurodevelopmental disorder with growth retardation, dysmorphic facies, and corpus callosum abnormalities, MIM# 620113
Growth failure v1.46 HEATR3 Zornitza Stark Phenotypes for gene: HEATR3 were changed from Bone marrow failure, short stature, facial and acromelic dysmorphic features, and mild intellectual disability; Diamond Blackfan anaemia MONDO:0015253, HEATR3 related to Bone marrow failure, short stature, facial and acromelic dysmorphic features, and mild intellectual disability; Diamond-Blackfan anaemia 21, MIM# 620072
Growth failure v1.45 HEATR3 Zornitza Stark reviewed gene: HEATR3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Diamond-Blackfan anaemia 21, MIM# 620072; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Growth failure v1.45 FOSL2 Zornitza Stark Marked gene: FOSL2 as ready
Growth failure v1.45 FOSL2 Zornitza Stark Gene: fosl2 has been classified as Green List (High Evidence).
Growth failure v1.45 FOSL2 Zornitza Stark Classified gene: FOSL2 as Green List (high evidence)
Growth failure v1.45 FOSL2 Zornitza Stark Gene: fosl2 has been classified as Green List (High Evidence).
Growth failure v1.44 FOSL2 Krithika Murali gene: FOSL2 was added
gene: FOSL2 was added to Growth failure. Sources: Literature
Mode of inheritance for gene: FOSL2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FOSL2 were set to 36197437
Phenotypes for gene: FOSL2 were set to Neurodevelopmental disorder, MONDO:0700092, FOSL2-related
Review for gene: FOSL2 was set to GREEN
Added comment: PMID 36197437 Cospain et al 2022 report 11 individuals from 10 families with heterozygous PTC variants in exon 4/4 of the FOSL2 gene. All variants were predicted to escape NMD resulting in a truncated protein, with the truncation occurring proximal to the C-terminal domain (supportive functional studies).

In 10/11 families the variant occurred de novo in a single affected proband. In one family with 2 affected siblings, the variant was present in the siblings but absent in the unaffected parent likely due to gonadal mosaicism.

Clinical features included:
- Cutis aplasia congenital of the scalp (10/11)
- Tooth enamel hypoplasia and discolouration (8/9)
- Multiple other ectodermal features also noted e.g. small brittle nails, hypotrichosis/hypertrichosis, lichen sclerosis
- 5 individuals had cataracts (mostly bilateral, congenital/early childhood onset)
- 6/9 IUGR
- 5/9 postnatal growth restriction
- 7/9 developmental delay/ID
- 5/7 ADHD/ASD
- 2/9 seizures
Sources: Literature
Growth failure v1.44 LIG4 Zornitza Stark Tag treatable tag was added to gene: LIG4.
Growth failure v1.44 LHX4 Zornitza Stark Tag treatable tag was added to gene: LHX4.
Growth failure v1.44 LHX3 Zornitza Stark Tag treatable tag was added to gene: LHX3.
Growth failure v1.44 GINS3 Zornitza Stark Marked gene: GINS3 as ready
Growth failure v1.44 GINS3 Zornitza Stark Gene: gins3 has been classified as Green List (High Evidence).
Growth failure v1.44 GINS3 Zornitza Stark Classified gene: GINS3 as Green List (high evidence)
Growth failure v1.44 GINS3 Zornitza Stark Gene: gins3 has been classified as Green List (High Evidence).
Growth failure v1.43 GINS3 Zornitza Stark gene: GINS3 was added
gene: GINS3 was added to Growth failure. Sources: Literature
Mode of inheritance for gene: GINS3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GINS3 were set to 35603789
Phenotypes for gene: GINS3 were set to Meier-Gorlin syndrome, MONDO:0016817, GINS3-related
Review for gene: GINS3 was set to GREEN
Added comment: 7 individuals from 5 families reported, presenting with prenatal and postnatal growth deficiency as well as other features. Three unique missense variants identified, two affecting p.Asp24. These variants are thought to be hypomorphic. Supportive mouse model.
Sources: Literature
Growth failure v1.42 HEATR3 Zornitza Stark Marked gene: HEATR3 as ready
Growth failure v1.42 HEATR3 Zornitza Stark Gene: heatr3 has been classified as Green List (High Evidence).
Growth failure v1.42 HEATR3 Zornitza Stark Classified gene: HEATR3 as Green List (high evidence)
Growth failure v1.42 HEATR3 Zornitza Stark Gene: heatr3 has been classified as Green List (High Evidence).
Growth failure v1.41 HEATR3 Chern Lim changed review comment from: PMID: 35213692:
- 4 unrelated individuals with biallelic HEATR3 variants (missense and splice site variants), exhibiting bone marrow failure, short stature, facial and acromelic dysmorphic features, and mild intellectual disability.
- Functional analysis showed HEATR3 variants destabilised the protein, resulting in a reduction of nuclear uL18 and impaired ribosome biogenesis.

Bone marrow failure, short stature, facial and acromelic dysmorphic features, and mild intellectual disability
Sources: Literature; to: PMID: 35213692:
- 4 unrelated individuals with biallelic HEATR3 variants (missense and splice site variants), exhibiting bone marrow failure, short stature, facial and acromelic dysmorphic features, and mild intellectual disability.
- Functional analysis showed HEATR3 variants destabilised the protein, resulting in a reduction of nuclear uL18 and impaired ribosome biogenesis.
Growth failure v1.41 HEATR3 Chern Lim gene: HEATR3 was added
gene: HEATR3 was added to Growth failure. Sources: Literature
Mode of inheritance for gene: HEATR3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HEATR3 were set to PMID: 35213692
Phenotypes for gene: HEATR3 were set to Bone marrow failure, short stature, facial and acromelic dysmorphic features, and mild intellectual disability; Diamond Blackfan anaemia MONDO:0015253, HEATR3 related
Review for gene: HEATR3 was set to GREEN
gene: HEATR3 was marked as current diagnostic
Added comment: PMID: 35213692:
- 4 unrelated individuals with biallelic HEATR3 variants (missense and splice site variants), exhibiting bone marrow failure, short stature, facial and acromelic dysmorphic features, and mild intellectual disability.
- Functional analysis showed HEATR3 variants destabilised the protein, resulting in a reduction of nuclear uL18 and impaired ribosome biogenesis.

Bone marrow failure, short stature, facial and acromelic dysmorphic features, and mild intellectual disability
Sources: Literature
Growth failure v1.41 PCDHGC4 Zornitza Stark Marked gene: PCDHGC4 as ready
Growth failure v1.41 PCDHGC4 Zornitza Stark Gene: pcdhgc4 has been classified as Green List (High Evidence).
Growth failure v1.41 PCDHGC4 Zornitza Stark Classified gene: PCDHGC4 as Green List (high evidence)
Growth failure v1.41 PCDHGC4 Zornitza Stark Gene: pcdhgc4 has been classified as Green List (High Evidence).
Growth failure v1.40 PCDHGC4 Zornitza Stark edited their review of gene: PCDHGC4: Changed rating: GREEN
Growth failure v1.40 PCDHGC4 Zornitza Stark gene: PCDHGC4 was added
gene: PCDHGC4 was added to Growth failure. Sources: Expert Review
Mode of inheritance for gene: PCDHGC4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PCDHGC4 were set to 34244665
Phenotypes for gene: PCDHGC4 were set to Neurodevelopmental disorder with poor growth and skeletal anomalies, MIM# 619880
Added comment: Eight variants reported in 19 members of nine unreleted families with a neurodevelopmental syndrome. Severe or moderate intellectual disabilty in eight families and seizures in four families. Four of the variants were LoF, in silico analysis of the remaining missense (n=3) and splice variants were predicted to be pathogenic.

Poor growth was a key feature.
Sources: Expert Review
Growth failure v1.39 BAP1 Zornitza Stark Phenotypes for gene: BAP1 were changed from syndromic intellectual disability MONDO:0000508 to Kury-Isidor syndrome , MIM#619762
Growth failure v1.38 BRD4 Zornitza Stark Phenotypes for gene: BRD4 were changed from Cornelia de Lange syndrome (no OMIM# yet) to Cornelia de Lange syndrome, MONDO:0016033
Growth failure v1.37 SPRED2 Zornitza Stark Phenotypes for gene: SPRED2 were changed from Rasopathy; developmental delay; intellectual disability; cardiac defects; short stature; skeletal anomalies; a typical facial gestalt to Noonan syndrome 14, MIM# 619745
Growth failure v1.36 SPRED2 Zornitza Stark reviewed gene: SPRED2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Noonan syndrome 14, MIM# 619745; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Growth failure v1.36 THUMPD1 Zornitza Stark Marked gene: THUMPD1 as ready
Growth failure v1.36 THUMPD1 Zornitza Stark Gene: thumpd1 has been classified as Green List (High Evidence).
Growth failure v1.36 THUMPD1 Zornitza Stark Phenotypes for gene: THUMPD1 were changed from Syndromic form of intellectual disability associated with developmental delay, behavioral abnormalities, hearing loss and facial dysmorphism, AR to Syndromic disease, MONDO:0002254, THUMPD1-related
Growth failure v1.35 THUMPD1 Zornitza Stark Classified gene: THUMPD1 as Green List (high evidence)
Growth failure v1.35 THUMPD1 Zornitza Stark Gene: thumpd1 has been classified as Green List (High Evidence).
Growth failure v1.34 THUMPD1 Chern Lim changed review comment from: Broly, M. et al. (2022), AJHG:
- 13 individuals from 8 families, loss of function variants (PTVs, one missense, one single AA del).
- Common phenotypic findings included global developmental delay, speech delay, moderate to severe intellectual deficiency, behavioral abnormalities such as angry outbursts, facial dysmorphism and ophthalmological abnormalities.
Sources: Other; to: Broly, M. et al. (2022), AJHG:
- 13 individuals from 8 families, biallelic loss of function variants (PTVs, one missense, one single AA del).
- Common phenotypic findings included global developmental delay, speech delay, moderate to severe intellectual deficiency, behavioral abnormalities such as angry outbursts, facial dysmorphism and ophthalmological abnormalities.
Sources: Other
Growth failure v1.34 THUMPD1 Chern Lim changed review comment from: Broly, M. et al. (2022) manuscript accepted in AJHG:
- 13 individuals from 8 families, loss of function variants (PTVs, one missense, one single AA del).
- Common phenotypic findings included global developmental delay, speech delay, moderate to severe intellectual deficiency, behavioral abnormalities such as angry outbursts, facial dysmorphism and ophthalmological abnormalities.
Sources: Other; to: Broly, M. et al. (2022), AJHG:
- 13 individuals from 8 families, loss of function variants (PTVs, one missense, one single AA del).
- Common phenotypic findings included global developmental delay, speech delay, moderate to severe intellectual deficiency, behavioral abnormalities such as angry outbursts, facial dysmorphism and ophthalmological abnormalities.
Sources: Other
Growth failure v1.34 THUMPD1 Chern Lim gene: THUMPD1 was added
gene: THUMPD1 was added to Growth failure. Sources: Other
Mode of inheritance for gene: THUMPD1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: THUMPD1 were set to Syndromic form of intellectual disability associated with developmental delay, behavioral abnormalities, hearing loss and facial dysmorphism, AR
Review for gene: THUMPD1 was set to GREEN
gene: THUMPD1 was marked as current diagnostic
Added comment: Broly, M. et al. (2022) manuscript accepted in AJHG:
- 13 individuals from 8 families, loss of function variants (PTVs, one missense, one single AA del).
- Common phenotypic findings included global developmental delay, speech delay, moderate to severe intellectual deficiency, behavioral abnormalities such as angry outbursts, facial dysmorphism and ophthalmological abnormalities.
Sources: Other
Growth failure v1.34 BAP1 Zornitza Stark Marked gene: BAP1 as ready
Growth failure v1.34 BAP1 Zornitza Stark Gene: bap1 has been classified as Green List (High Evidence).
Growth failure v1.34 BAP1 Zornitza Stark Classified gene: BAP1 as Green List (high evidence)
Growth failure v1.34 BAP1 Zornitza Stark Gene: bap1 has been classified as Green List (High Evidence).
Growth failure v1.33 CENPJ Zornitza Stark Classified gene: CENPJ as Amber List (moderate evidence)
Growth failure v1.33 CENPJ Zornitza Stark Gene: cenpj has been classified as Amber List (Moderate Evidence).
Growth failure v1.32 CENPJ Zornitza Stark edited their review of gene: CENPJ: Added comment: PMID 34068194: two further families reported, same homozygous missense, founder?; Changed rating: AMBER; Changed publications: 20522431, 23166506, 34068194
Growth failure v1.32 BAP1 Anna Ritchie gene: BAP1 was added
gene: BAP1 was added to Growth failure. Sources: Literature
Mode of inheritance for gene: BAP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: BAP1 were set to PMID: 35051358
Phenotypes for gene: BAP1 were set to syndromic intellectual disability MONDO:0000508
Penetrance for gene: BAP1 were set to unknown
Review for gene: BAP1 was set to GREEN
Added comment: 11 de novo germline heterozygous missense BAP1 variants associated with a rare syndromic neurodevelopmental disorder. Functional analysis showed that most of the variants cannot rescue the consequences of BAP1 inactivation, suggesting a loss-of-function mechanism. All affected individuals harboring a de novo BAP1 variant had DD or ID (11/11) characterized notably by speech (11/ 11) and motor delay (6/11). Most of them had hypotonia (7/11), seizures (6/11), and abnormal behavior (8/10), including autism spectrum disorder, attention deficit hyperactivity disorder, and hypersensitivity. Almost all individuals showed dysmorphic facial features (10/11), and more than half (6/11) had skeletal malformations (involving the hands [4/11], feet [3/11], or spine [2/11]). Most of the individuals had growth failure (9/11), including four individuals with a very short stature.
Sources: Literature
Growth failure v1.32 FRA10AC1 Zornitza Stark Marked gene: FRA10AC1 as ready
Growth failure v1.32 FRA10AC1 Zornitza Stark Gene: fra10ac1 has been classified as Green List (High Evidence).
Growth failure v1.32 FRA10AC1 Zornitza Stark Classified gene: FRA10AC1 as Green List (high evidence)
Growth failure v1.32 FRA10AC1 Zornitza Stark Gene: fra10ac1 has been classified as Green List (High Evidence).
Growth failure v1.31 FRA10AC1 Zornitza Stark gene: FRA10AC1 was added
gene: FRA10AC1 was added to Growth failure. Sources: Literature
Mode of inheritance for gene: FRA10AC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FRA10AC1 were set to 34694367
Phenotypes for gene: FRA10AC1 were set to Neurodevelopmental disorder, MONDO:0700092, FRA10AC1-related
Review for gene: FRA10AC1 was set to GREEN
Added comment: PMID 34694367: 5 individuals from 3 unrelated families reported. Variable ID, possibly related to variant type with LoF variants associated with more severe ID. All individuals had microcephaly, hypoplasia or agenesis of the corpus callosum, growth retardation, and craniofacial dysmorphism.
Sources: Literature
Growth failure v1.30 STT3A Zornitza Stark Phenotypes for gene: STT3A were changed from Congenital disorder of glycosylation, type Iw MIM#615596 to Congenital disorder of glycosylation, type Iw, AR, OMIM #615596; Congenital disorder of glycosylation, type Iw, autosomal dominant, MIM# 619714
Growth failure v1.29 SCUBE3 Zornitza Stark Marked gene: SCUBE3 as ready
Growth failure v1.29 SCUBE3 Zornitza Stark Gene: scube3 has been classified as Green List (High Evidence).
Growth failure v1.29 SCUBE3 Zornitza Stark Classified gene: SCUBE3 as Green List (high evidence)
Growth failure v1.29 SCUBE3 Zornitza Stark Gene: scube3 has been classified as Green List (High Evidence).
Growth failure v1.28 SCUBE3 Zornitza Stark gene: SCUBE3 was added
gene: SCUBE3 was added to Growth failure. Sources: Expert Review
Mode of inheritance for gene: SCUBE3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SCUBE3 were set to 33308444
Phenotypes for gene: SCUBE3 were set to Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies OMIM:619184; short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 2 MONDO:0030953
Review for gene: SCUBE3 was set to GREEN
Added comment: Eighteen affected individuals from nine unrelated families reported with a consistent phenotype characterised by reduced growth, skeletal features, distinctive craniofacial appearance, and dental anomalies. Mouse model recapitulated phenotype. Can present with growth retardation antenatally.
Sources: Expert Review
Growth failure v1.27 TRMT10A Zornitza Stark Marked gene: TRMT10A as ready
Growth failure v1.27 TRMT10A Zornitza Stark Gene: trmt10a has been classified as Green List (High Evidence).
Growth failure v1.27 TRMT10A Zornitza Stark Classified gene: TRMT10A as Green List (high evidence)
Growth failure v1.27 TRMT10A Zornitza Stark Gene: trmt10a has been classified as Green List (High Evidence).
Growth failure v1.26 TRMT10A Zornitza Stark gene: TRMT10A was added
gene: TRMT10A was added to Growth failure. Sources: Expert Review
Mode of inheritance for gene: TRMT10A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TRMT10A were set to 24204302; 25053765; 33448213; 33067246; 26535115; 26526202; 26297882
Phenotypes for gene: TRMT10A were set to Microcephaly, short stature, and impaired glucose metabolism 1, MIM# 616033; MONDO:0000208
Review for gene: TRMT10A was set to GREEN
Added comment: More than 5 unrelated families reported, short stature is a key feature.
Sources: Expert Review
Growth failure v1.25 TKT Zornitza Stark Marked gene: TKT as ready
Growth failure v1.25 TKT Zornitza Stark Gene: tkt has been classified as Amber List (Moderate Evidence).
Growth failure v1.25 TKT Zornitza Stark Classified gene: TKT as Amber List (moderate evidence)
Growth failure v1.25 TKT Zornitza Stark Gene: tkt has been classified as Amber List (Moderate Evidence).
Growth failure v1.24 TKT Zornitza Stark gene: TKT was added
gene: TKT was added to Growth failure. Sources: Expert list
Mode of inheritance for gene: TKT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TKT were set to 27259054
Phenotypes for gene: TKT were set to Short stature, developmental delay, and congenital heart defects; OMIM #617044
Review for gene: TKT was set to AMBER
Added comment: Boyle et al. (2016) reported 3 families with 5 affected individuals with proportionate short stature, developmental delay, and congenital heart defects. Enzymatic testing confirmed significantly reduced transketolase activity. Elevated urinary excretion of erythritol, arabitol, ribitol, and pent(ul)ose-5-phosphates was detected, as well as elevated amounts of erythritol, arabitol, and ribitol in the plasma of affected individuals. Transketolase deficiency reduces NADPH synthesis and nucleic acid synthesis and cell division.

Two of the families had the same variant ?founder.
Sources: Expert list
Growth failure v1.23 KANSL1 Zornitza Stark Marked gene: KANSL1 as ready
Growth failure v1.23 KANSL1 Zornitza Stark Gene: kansl1 has been classified as Green List (High Evidence).
Growth failure v1.23 KANSL1 Zornitza Stark Classified gene: KANSL1 as Green List (high evidence)
Growth failure v1.23 KANSL1 Zornitza Stark Gene: kansl1 has been classified as Green List (High Evidence).
Growth failure v1.22 KANSL1 Zornitza Stark gene: KANSL1 was added
gene: KANSL1 was added to Growth failure. Sources: Expert Review
SV/CNV tags were added to gene: KANSL1.
Mode of inheritance for gene: KANSL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KANSL1 were set to 22544363
Phenotypes for gene: KANSL1 were set to Koolen-De Vries syndrome (MIM#610443)
Review for gene: KANSL1 was set to GREEN
Added comment: Well established gene-disease association. Short stature in around a third of affected individuals.
Sources: Expert Review
Growth failure v1.21 TRIP13 Zornitza Stark Tag founder tag was added to gene: TRIP13.
Growth failure v1.21 TRIP13 Zornitza Stark Classified gene: TRIP13 as Green List (high evidence)
Growth failure v1.21 TRIP13 Zornitza Stark Gene: trip13 has been classified as Green List (High Evidence).
Growth failure v1.20 TRIP13 Zornitza Stark changed review comment from: Autosomal recessive disorder resulting from errors in chromosome segregation. Most affected individuals develop early-onset Wilms tumor and show either aneuploidy or premature chromatid separation in cells. Some patients may have additional developmental features, such as microcephaly, growth retardation, or developmental delay.

6 unrelated families reported, but 5 shared the same homozygous stop variant, p.Arg354X, suggestive of founder effect.
Sources: Expert Review; to: Autosomal recessive disorder resulting from errors in chromosome segregation. Most affected individuals develop early-onset Wilms tumor and show either aneuploidy or premature chromatid separation in cells. Some patients may have additional developmental features, such as microcephaly, growth retardation, or developmental delay.

6 unrelated families reported, but 5 shared the same homozygous stop variant, p.Arg354X, suggestive of founder effect.

Supportive functional data.
Sources: Expert Review
Growth failure v1.20 TRIP13 Zornitza Stark edited their review of gene: TRIP13: Changed rating: GREEN
Growth failure v1.20 CDC45 Zornitza Stark Marked gene: CDC45 as ready
Growth failure v1.20 CDC45 Zornitza Stark Gene: cdc45 has been classified as Green List (High Evidence).
Growth failure v1.20 CDC45 Zornitza Stark Classified gene: CDC45 as Green List (high evidence)
Growth failure v1.20 CDC45 Zornitza Stark Gene: cdc45 has been classified as Green List (High Evidence).
Growth failure v1.19 CDC45 Zornitza Stark gene: CDC45 was added
gene: CDC45 was added to Growth failure. Sources: Expert Review
Mode of inheritance for gene: CDC45 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CDC45 were set to 31474763; 27374770
Phenotypes for gene: CDC45 were set to Meier-Gorlin syndrome 7, MIM 617063
Review for gene: CDC45 was set to GREEN
Added comment: More than 10 families reported, short stature is a defining feature.
Sources: Expert Review
Growth failure v1.18 ANTXR1 Zornitza Stark Marked gene: ANTXR1 as ready
Growth failure v1.18 ANTXR1 Zornitza Stark Gene: antxr1 has been classified as Green List (High Evidence).
Growth failure v1.18 ANTXR1 Zornitza Stark Classified gene: ANTXR1 as Green List (high evidence)
Growth failure v1.18 ANTXR1 Zornitza Stark Gene: antxr1 has been classified as Green List (High Evidence).
Growth failure v1.17 ANTXR1 Zornitza Stark gene: ANTXR1 was added
gene: ANTXR1 was added to Growth failure. Sources: Expert Review
Mode of inheritance for gene: ANTXR1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ANTXR1 were set to 23602711; 25045128; 31425299; 30575274; 29436111; 28870703
Phenotypes for gene: ANTXR1 were set to GAPO syndrome, MIM# 230740
Review for gene: ANTXR1 was set to GREEN
Added comment: GAPO syndrome is the acronymic designation for a complex of growth retardation, alopecia, pseudoanodontia (failure of tooth eruption), and progressive optic atrophy. Optic atrophy is not a consistent feature. At least 10 unrelated families reported.
Sources: Expert Review
Growth failure v1.16 RNPC3 Zornitza Stark Phenotypes for gene: RNPC3 were changed from Growth hormone deficiency to Growth hormone deficiency; Intellectual disability
Growth failure v1.15 RNPC3 Zornitza Stark Publications for gene: RNPC3 were set to 32462814; 29866761; 24480542
Growth failure v1.14 RNPC3 Zornitza Stark Classified gene: RNPC3 as Green List (high evidence)
Growth failure v1.14 RNPC3 Zornitza Stark Gene: rnpc3 has been classified as Green List (High Evidence).
Growth failure v1.13 RNPC3 Zornitza Stark edited their review of gene: RNPC3: Added comment: PMID 33650182: third individual reported with growth failure and ID.; Changed rating: GREEN; Changed publications: 29866761, 32462814, 33650182; Changed phenotypes: Growth hormone deficiency, Intellectual disability
Growth failure v1.13 STT3A Zornitza Stark Marked gene: STT3A as ready
Growth failure v1.13 STT3A Zornitza Stark Gene: stt3a has been classified as Green List (High Evidence).
Growth failure v1.13 STT3A Zornitza Stark Classified gene: STT3A as Green List (high evidence)
Growth failure v1.13 STT3A Zornitza Stark Gene: stt3a has been classified as Green List (High Evidence).
Growth failure v1.12 SPRED2 Zornitza Stark Marked gene: SPRED2 as ready
Growth failure v1.12 SPRED2 Zornitza Stark Gene: spred2 has been classified as Green List (High Evidence).
Growth failure v1.12 SPRED2 Zornitza Stark Phenotypes for gene: SPRED2 were changed from developmental delay; intellectual disability; cardiac defects; short stature; skeletal anomalies; a typical facial gestalt to Rasopathy; developmental delay; intellectual disability; cardiac defects; short stature; skeletal anomalies; a typical facial gestalt
Growth failure v1.11 SPRED2 Zornitza Stark Classified gene: SPRED2 as Green List (high evidence)
Growth failure v1.11 SPRED2 Zornitza Stark Gene: spred2 has been classified as Green List (High Evidence).
Growth failure v1.10 SPRED2 Dean Phelan gene: SPRED2 was added
gene: SPRED2 was added to Growth failure. Sources: Literature
Mode of inheritance for gene: SPRED2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SPRED2 were set to PMID: 34626534
Phenotypes for gene: SPRED2 were set to developmental delay; intellectual disability; cardiac defects; short stature; skeletal anomalies; a typical facial gestalt
Review for gene: SPRED2 was set to GREEN
Added comment: PMID: 34626534
Homozygosity for three different variants c.187C>T (p.Arg63∗), c.299T>C (p.Leu100Pro), and c.1142_1143delTT (p.Leu381Hisfs∗95) were identified in four subjects from three families. All variants severely affected protein stability, causing accelerated degradation, and variably perturbed SPRED2 functional behaviour. The clinical phenotype of the four affected individuals included developmental delay, intellectual disability, cardiac defects, short stature, skeletal anomalies, and a typical facial gestalt as major features, without the occurrence of the distinctive skin signs characterizing Legius syndrome.
Sources: Literature
Growth failure v1.10 STT3A Elena Savva gene: STT3A was added
gene: STT3A was added to Growth failure. Sources: Literature
Mode of inheritance for gene: STT3A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: STT3A were set to PMID: 34653363; 23842455; 30701557; 28424003
Phenotypes for gene: STT3A were set to Congenital disorder of glycosylation, type Iw MIM#615596
Mode of pathogenicity for gene: STT3A was set to Other
Review for gene: STT3A was set to GREEN
Added comment: ID/DD reported in all cases (at least 7 individuals from 3 unrelated families, with 2 different homozygous variants in STT3A)

PMID: 34653363 - 16 patients from 9 families with new AD mode of inheritance (both de novo and inherited). All variants were missense within/around acritical active/catalytic sites. Patients aged 3-55yo, with children noted to be "healthy" until reaching young adulthood
Clinical features include dysmorphic features, macrocephaly (6/16), mild-moderate ID/DD (10/16), short stature (8/16), skeletal abnormalities (10/16), muscle cramps (7/16).
Functional studies verifies AR disease is caused by LOF variants, whereas the AD variants cause DN proven by cotransfection in WT yeast resulting in impaired glycosylation (protein levels unchanged).
Sources: Literature
Growth failure v1.10 STAT5B Zornitza Stark Mode of inheritance for gene: STAT5B was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Growth failure v1.9 RNF113A Zornitza Stark Marked gene: RNF113A as ready
Growth failure v1.9 RNF113A Zornitza Stark Gene: rnf113a has been classified as Green List (High Evidence).
Growth failure v1.9 RNF113A Zornitza Stark Classified gene: RNF113A as Green List (high evidence)
Growth failure v1.9 RNF113A Zornitza Stark Gene: rnf113a has been classified as Green List (High Evidence).
Growth failure v1.8 RNF113A Zornitza Stark gene: RNF113A was added
gene: RNF113A was added to Growth failure. Sources: Expert Review
Mode of inheritance for gene: RNF113A was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: RNF113A were set to 25612912; 31793730; 31880405
Phenotypes for gene: RNF113A were set to Trichothiodystrophy 5, nonphotosensitive; OMIM #300953
Review for gene: RNF113A was set to GREEN
Added comment: Four families reported, two with same variant. Clinical features include ID, microcephaly, IUGR/growth failure, hypogonadism, and sparse/brittle hair. One of the families had antenatal presentation.
Sources: Expert Review
Growth failure v1.7 KMT2A Zornitza Stark Marked gene: KMT2A as ready
Growth failure v1.7 KMT2A Zornitza Stark Added comment: Comment when marking as ready: Short stature is a feature.
Growth failure v1.7 KMT2A Zornitza Stark Gene: kmt2a has been classified as Green List (High Evidence).
Growth failure v1.7 KMT2A Zornitza Stark Publications for gene: KMT2A were set to PubMed: 22795537, 25810209, 29574747, 33783954
Growth failure v1.6 KMT2A Chirag Patel Classified gene: KMT2A as Green List (high evidence)
Growth failure v1.6 KMT2A Chirag Patel Gene: kmt2a has been classified as Green List (High Evidence).
Growth failure v1.5 KMT2A Chirag Patel gene: KMT2A was added
gene: KMT2A was added to Growth failure. Sources: Literature
Mode of inheritance for gene: KMT2A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KMT2A were set to PubMed: 22795537, 25810209, 29574747, 33783954
Phenotypes for gene: KMT2A were set to Wiedemann-Steiner syndrome; OMIM #605130
Review for gene: KMT2A was set to GREEN
Added comment: Wiedemann-Steiner syndrome is a congenital malformation syndrome characteriSed by hypertrichosis cubiti/back, short stature/growth retardation, mild to moderate intellectual disability; behavioral difficulties, and dysmorphism (long eyelashes, thick/arched eyebrows with lateral flare, broad nasal bridge, and downslanting and vertically narrow palpebral fissures). Many patients reported in the literature.
Sources: Literature
Growth failure v1.4 ZNF668 Zornitza Stark Marked gene: ZNF668 as ready
Growth failure v1.4 ZNF668 Zornitza Stark Gene: znf668 has been classified as Amber List (Moderate Evidence).
Growth failure v1.4 ZNF668 Zornitza Stark Classified gene: ZNF668 as Amber List (moderate evidence)
Growth failure v1.4 ZNF668 Zornitza Stark Gene: znf668 has been classified as Amber List (Moderate Evidence).
Growth failure v1.3 ZNF668 Paul De Fazio gene: ZNF668 was added
gene: ZNF668 was added to Growth failure. Sources: Literature
Mode of inheritance for gene: ZNF668 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ZNF668 were set to 34313816; 26633546
Phenotypes for gene: ZNF668 were set to DNA damage repair defect; microcephaly; growth deficiency; severe global developmental delay; brain malformation; facial dysmorphism
Review for gene: ZNF668 was set to AMBER
gene: ZNF668 was marked as current diagnostic
Added comment: 2 consanguineous families reported with different biallelic truncating (not NMD) variants in ZNF668. Phenotypes included microcephaly, growth deficiency, severe global developmental delay, brain malformation, and distinct facial dysmorphism.

Immunofluorescence indicated ZNF668 deficiency. An increased DNA damage phenotype was demonstrated in patient fibroblasts.
Sources: Literature
Growth failure v1.3 GINS2 Zornitza Stark Marked gene: GINS2 as ready
Growth failure v1.3 GINS2 Zornitza Stark Gene: gins2 has been classified as Red List (Low Evidence).
Growth failure v1.3 GINS2 Zornitza Stark gene: GINS2 was added
gene: GINS2 was added to Growth failure. Sources: Literature
Mode of inheritance for gene: GINS2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GINS2 were set to 34353863
Phenotypes for gene: GINS2 were set to Meier-Gorlin syndrome with craniosynostosis
Review for gene: GINS2 was set to RED
Added comment: Sa et al., 2021 (PMID: 34353863) identified a patient presenting with prenatal and postnatal growth restriction, a craniofacial gestalt of MGORS and coronal craniosynostosis. A homozygous missense variant (c.341G>T, p.Arg114Leu) in GINS2 was identified that was heterozygous in both unaffected parents. Some supportive functional data included. GINS2 is not currently not associated with any phenotype in OMIM or G2P and no additional cases have been identified to date.
Sources: Literature
Growth failure v1.2 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Genetic Health Queensland; Rare Disease
Growth failure v1.1 Zornitza Stark Panel name changed from Growth failure in early childhood to Growth failure
Panel types changed to Victorian Clinical Genetics Services; Rare Disease
Growth failure v1.0 Zornitza Stark promoted panel to version 1.0
Growth failure v0.404 ZFP57 Zornitza Stark edited their review of gene: ZFP57: Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Growth failure v0.404 ZFP57 Zornitza Stark Marked gene: ZFP57 as ready
Growth failure v0.404 ZFP57 Zornitza Stark Gene: zfp57 has been classified as Green List (High Evidence).
Growth failure v0.404 ZFP57 Zornitza Stark Phenotypes for gene: ZFP57 were changed from diabetes mellitus, transient neonatal, 1MONDO:0011073; Diabetes mellitus, transient neonatal 1 OMIM:601410; IUGR; Multi Locus Imprinting Disturbance to Diabetes mellitus, transient neonatal 1, MIM# 601410
Growth failure v0.403 ZFP57 Zornitza Stark Classified gene: ZFP57 as Green List (high evidence)
Growth failure v0.403 ZFP57 Zornitza Stark Gene: zfp57 has been classified as Green List (High Evidence).
Growth failure v0.402 ZFP57 Zornitza Stark reviewed gene: ZFP57: Rating: GREEN; Mode of pathogenicity: None; Publications: 18622393; Phenotypes: Diabetes mellitus, transient neonatal 1, MIM# 601410; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Growth failure v0.402 PADI6 Zornitza Stark Marked gene: PADI6 as ready
Growth failure v0.402 PADI6 Zornitza Stark Gene: padi6 has been classified as Amber List (Moderate Evidence).
Growth failure v0.402 PADI6 Zornitza Stark Phenotypes for gene: PADI6 were changed from miscarriages in the family; Preimplantation embryonic lethality 2 OMIM:617234; Short stature; preimplantation embryonic lethality 2 MONDO:0014978; Multi Locus Imprinting Disturbance; IUGR; Beckwith-Wiedemann syndrome to IUGR
Growth failure v0.401 PADI6 Zornitza Stark Mode of inheritance for gene: PADI6 was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal to Other
Growth failure v0.400 PADI6 Zornitza Stark reviewed gene: PADI6: Rating: AMBER; Mode of pathogenicity: None; Publications: 33221824, 32928291, 29574422; Phenotypes: IUGR; Mode of inheritance: Other
Growth failure v0.400 NLRP7 Zornitza Stark Marked gene: NLRP7 as ready
Growth failure v0.400 NLRP7 Zornitza Stark Gene: nlrp7 has been classified as Amber List (Moderate Evidence).
Growth failure v0.400 NLRP7 Zornitza Stark Phenotypes for gene: NLRP7 were changed from hydatidiform mole, recurrent, 1 MONDO:0009273; Short stature; fetal wastage; Hydatidiform mole, recurrent, 1 OMIM:231090; IUGR; Multi Locus Imprinting Disturbance to IUGR
Growth failure v0.399 NLRP7 Zornitza Stark Mode of inheritance for gene: NLRP7 was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal to Other
Growth failure v0.398 NLRP7 Zornitza Stark reviewed gene: NLRP7: Rating: AMBER; Mode of pathogenicity: None; Publications: 28561018; Phenotypes: IUGR; Mode of inheritance: Other
Growth failure v0.398 NLRP5 Zornitza Stark Marked gene: NLRP5 as ready
Growth failure v0.398 NLRP5 Zornitza Stark Gene: nlrp5 has been classified as Amber List (Moderate Evidence).
Growth failure v0.398 NLRP5 Zornitza Stark Phenotypes for gene: NLRP5 were changed from body asymmetry; Short stature; Failure to thrive; multilocus imprinting disturbances; IUGR to Short stature; Failure to thrive; multilocus imprinting disturbances; IUGR
Growth failure v0.397 NLRP5 Zornitza Stark Mode of inheritance for gene: NLRP5 was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal to Other
Growth failure v0.396 NLRP5 Zornitza Stark Classified gene: NLRP5 as Amber List (moderate evidence)
Growth failure v0.396 NLRP5 Zornitza Stark Gene: nlrp5 has been classified as Amber List (Moderate Evidence).
Growth failure v0.395 NLRP5 Zornitza Stark changed review comment from: A number of patients with IUGR and failure of catch up have an imprinting error (within the spectrum of Silver Russell syndrome) caused by mutations in NLRP2 in the MOTHER of the patient.

Note that LOF mutations (homozygous or heterozygous mutations) identified in the mother would lead to further patient testing for multi-locus imprinting disturbance through methylation testing or vice versa, methylation abnormalities in offspring may prompt genomic evaluation of the mother.

Current trio filtering protocols may not account for this adequately.; to: A number of patients with IUGR and failure of catch up have an imprinting error (within the spectrum of Silver Russell syndrome) caused by mutations in NLRP5 in the MOTHER of the patient.

Note that LOF mutations (homozygous or heterozygous mutations) identified in the mother would lead to further patient testing for multi-locus imprinting disturbance through methylation testing or vice versa, methylation abnormalities in offspring may prompt genomic evaluation of the mother.

Current trio filtering protocols may not account for this adequately.
Growth failure v0.395 NLRP5 Zornitza Stark reviewed gene: NLRP5: Rating: AMBER; Mode of pathogenicity: None; Publications: 29574422; Phenotypes: IUGR; Mode of inheritance: Other
Growth failure v0.395 STAT3 Zornitza Stark Marked gene: STAT3 as ready
Growth failure v0.395 STAT3 Zornitza Stark Gene: stat3 has been classified as Green List (High Evidence).
Growth failure v0.395 STAT3 Zornitza Stark Classified gene: STAT3 as Green List (high evidence)
Growth failure v0.395 STAT3 Zornitza Stark Gene: stat3 has been classified as Green List (High Evidence).
Growth failure v0.394 Zornitza Stark removed gene:NPR2 from the panel
Growth failure v0.393 Zornitza Stark removed gene:RAPSN from the panel
Growth failure v0.392 RPS6KA3 Zornitza Stark Marked gene: RPS6KA3 as ready
Growth failure v0.392 RPS6KA3 Zornitza Stark Gene: rps6ka3 has been classified as Green List (High Evidence).
Growth failure v0.392 RPS6KA3 Zornitza Stark Phenotypes for gene: RPS6KA3 were changed from Coffin Lowry to Coffin-Lowry syndrome MIM# 303600; Intellectual disability; short stature; delayed bone age; hearing deficit; hypotonia; tapering fingers; abnormal facies (hypertelorism, anteverted nares, prominent frontal region)
Growth failure v0.391 RPS6KA3 Zornitza Stark Publications for gene: RPS6KA3 were set to
Growth failure v0.390 RPS6KA3 Zornitza Stark Classified gene: RPS6KA3 as Green List (high evidence)
Growth failure v0.390 RPS6KA3 Zornitza Stark Gene: rps6ka3 has been classified as Green List (High Evidence).
Growth failure v0.389 SHOX2 Zornitza Stark Mode of inheritance for gene: SHOX2 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Growth failure v0.388 SHOX2 Zornitza Stark Marked gene: SHOX2 as ready
Growth failure v0.388 SHOX2 Zornitza Stark Gene: shox2 has been classified as Red List (Low Evidence).
Growth failure v0.388 SHOX2 Zornitza Stark Phenotypes for gene: SHOX2 were changed from to Sinus Node Dysfunction; Atrial Fibrillation
Growth failure v0.387 SHOX2 Zornitza Stark Publications for gene: SHOX2 were set to
Growth failure v0.386 SHOX2 Zornitza Stark Mode of inheritance for gene: SHOX2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Growth failure v0.385 SMARCAL1 Zornitza Stark Marked gene: SMARCAL1 as ready
Growth failure v0.385 SMARCAL1 Zornitza Stark Gene: smarcal1 has been classified as Green List (High Evidence).
Growth failure v0.385 SMARCAL1 Zornitza Stark Phenotypes for gene: SMARCAL1 were changed from to Schimke immune-osseous dysplasia MIM# 242900; T cell deficiency; Short stature; IUGR; spondyloepiphyseal dysplasia; growth retardation; renal dysfunction; lymphocytopaenia; nephropathy; bacterial/viral/fungal infections; may present as SCID; bone marrow failure
Growth failure v0.384 SMARCAL1 Zornitza Stark Publications for gene: SMARCAL1 were set to
Growth failure v0.383 SMARCAL1 Zornitza Stark Mode of inheritance for gene: SMARCAL1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Growth failure v0.382 SMARCAL1 Zornitza Stark Classified gene: SMARCAL1 as Green List (high evidence)
Growth failure v0.382 SMARCAL1 Zornitza Stark Gene: smarcal1 has been classified as Green List (High Evidence).
Growth failure v0.381 NPR2 Danielle Ariti gene: NPR2 was added
gene: NPR2 was added to Growth failure in early childhood. Sources: Literature
Mode of inheritance for gene: NPR2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NPR2 were set to 31555216; 16384845; 15146390
Phenotypes for gene: NPR2 were set to Acromesomelic dysplasia, Maroteaux type MIM# 602875; Short stature, disproportionate; Oval vertebral bodies in infancy; Progressive shortening of humerus, radius and ulna in first year; dwarfism; Prominent forehead
Review for gene: NPR2 was set to GREEN
Added comment: Over 15 unrelated families; Biallelic (missense, nonsense, frameshift, splice) NPR2 variants; loss of function; multiple mouse models.

Disorder is characterised by severe dwarfism with shortening of the middle and distal segments of the limbs (disproportionate) with skeletal growth falling off sharply after birth.
Sources: Literature
Growth failure v0.381 STAT3 Danielle Ariti gene: STAT3 was added
gene: STAT3 was added to Growth failure in early childhood. Sources: Literature
Mode of inheritance for gene: STAT3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: STAT3 were set to 25349174; 25038750; 25359994
Phenotypes for gene: STAT3 were set to Autoimmune disease, multisystem, infantile-onset, 1 MIM# 615952; Lymphoproliferation; solid organ autoimmunity; growth failure; recurrent infections; short stature; IUGR; eczema; delayed puberty; dental abnormalities; autoimmune interstitial lung disease; juvenile-onset arthritis; primary hypothyroidism
Mode of pathogenicity for gene: STAT3 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: STAT3 was set to GREEN
Added comment: 18 individuals from 15 unrelated families; monoallelic (missense or in-frame del) variants; gain of function; Multiple mouse models

Individuals exhibited various clinical features, with most presenting with early-onset autoimmunity and growth failure (IUGR, lymphadenopathy, autoimmune cytopaenias, multiorgan autoimmunity, recurrent infections, and short stature (<2SDS)).
Sources: Literature
Growth failure v0.381 RAPSN Danielle Ariti reviewed gene: RAPSN: Rating: GREEN; Mode of pathogenicity: None; Publications: 18179903, 18252226, 28495245, 22482962; Phenotypes: Fetal akinesia deformation sequence 2 MIM# 618388, AChR deficiency, fetal akinesia, IUGR, micrognathia, hypokinesia, contractures, muscular hypotonia, feeding difficulties, severe respiratory insufficiency, history of miscarriage; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Growth failure v0.381 RPS6KA3 Danielle Ariti reviewed gene: RPS6KA3: Rating: GREEN; Mode of pathogenicity: None; Publications: 6879200; Phenotypes: Coffin-Lowry syndrome MIM# 303600, Intellectual disability, short stature, delayed bone age, hearing deficit, hypotonia, tapering fingers, abnormal facies (hypertelorism, anteverted nares, prominent frontal region); Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Growth failure v0.381 SHOX2 Danielle Ariti reviewed gene: SHOX2: Rating: RED; Mode of pathogenicity: None; Publications: 30443179, 16537395, 16537395; Phenotypes: Linked to Sinus Node Dysfunction, Linked to Atrial Fibrillation; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Growth failure v0.381 SMARCAL1 Danielle Ariti reviewed gene: SMARCAL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301550, 17089404, 20036229; Phenotypes: Schimke immune-osseous dysplasia MIM# 242900, T cell deficiency, Short stature, IUGR, spondyloepiphyseal dysplasia, growth retardation, renal dysfunction, lymphocytopaenia, nephropathy, bacterial/viral/fungal infections, may present as SCID, bone marrow failure; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Growth failure v0.381 MSTO1 Zornitza Stark Marked gene: MSTO1 as ready
Growth failure v0.381 MSTO1 Zornitza Stark Gene: msto1 has been classified as Green List (High Evidence).
Growth failure v0.381 MSTO1 Zornitza Stark Classified gene: MSTO1 as Green List (high evidence)
Growth failure v0.381 MSTO1 Zornitza Stark Gene: msto1 has been classified as Green List (High Evidence).
Growth failure v0.380 MSTO1 Zornitza Stark reviewed gene: MSTO1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28544275, 29339779, 30684668; Phenotypes: Myopathy, mitochondrial, and ataxia, MIM# 617675; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Growth failure v0.380 RPL10 Zornitza Stark Marked gene: RPL10 as ready
Growth failure v0.380 RPL10 Zornitza Stark Gene: rpl10 has been classified as Green List (High Evidence).
Growth failure v0.380 RPL10 Zornitza Stark Phenotypes for gene: RPL10 were changed from Mental retardation, X-linked, syndromic, 35 to Intellectual developmental disorder, X-linked, syndromic, 35 MIM# 300998; severe growth retardation; intrauterine growth restriction; short stature; dysmorphic facial features (prognathism, dental crowding, thin upper lip); microcephaly; seizures; hypotonia; genitourinary abnormalities; cerebellar hypoplasia
Growth failure v0.379 RPL10 Zornitza Stark Publications for gene: RPL10 were set to 25316788
Growth failure v0.378 RPL10 Zornitza Stark Classified gene: RPL10 as Green List (high evidence)
Growth failure v0.378 RPL10 Zornitza Stark Gene: rpl10 has been classified as Green List (High Evidence).
Growth failure v0.377 ROR2 Zornitza Stark Marked gene: ROR2 as ready
Growth failure v0.377 ROR2 Zornitza Stark Gene: ror2 has been classified as Green List (High Evidence).
Growth failure v0.377 ROR2 Zornitza Stark Phenotypes for gene: ROR2 were changed from Robinow to Robinow syndrome, autosomal recessive MIM# 268310; hypertelorism; short stature; mesomelic shortening of the limbs; hypoplastic genitalia; rib/vertebral anomalies; abnormal morphogenesis of the face
Growth failure v0.376 ROR2 Zornitza Stark Publications for gene: ROR2 were set to
Growth failure v0.375 ROR2 Zornitza Stark Classified gene: ROR2 as Green List (high evidence)
Growth failure v0.375 ROR2 Zornitza Stark Gene: ror2 has been classified as Green List (High Evidence).
Growth failure v0.374 PROP1 Zornitza Stark Marked gene: PROP1 as ready
Growth failure v0.374 PROP1 Zornitza Stark Gene: prop1 has been classified as Green List (High Evidence).
Growth failure v0.374 PROP1 Zornitza Stark Phenotypes for gene: PROP1 were changed from Pituitary hormone deficiency, combined to Pituitary hormone deficiency, combined, 2 MIM# 262600; Ateliotic dwarfism with hypogonadism; growth failure; short stature; failure to thrive; absent sexual development at puberty; GH, PRL, TSH, LH, and FSH deficiency; pituitary hypoplasia
Growth failure v0.373 PROP1 Zornitza Stark Publications for gene: PROP1 were set to
Growth failure v0.372 PROP1 Zornitza Stark Classified gene: PROP1 as Green List (high evidence)
Growth failure v0.372 PROP1 Zornitza Stark Gene: prop1 has been classified as Green List (High Evidence).
Growth failure v0.371 PROKR2 Zornitza Stark Marked gene: PROKR2 as ready
Growth failure v0.371 PROKR2 Zornitza Stark Gene: prokr2 has been classified as Red List (Low Evidence).
Growth failure v0.371 PROKR2 Zornitza Stark Phenotypes for gene: PROKR2 were changed from hypopituitarism, Hypoplastic corpus callosum, normal or small anterior pituitary, Club foot, syrinx spinal cord, microcephaly, epilepsy to Hypogonadotropic hypogonadism 3 with or without anosmia MIM# 244200; Kallmann syndrome (KS); normosmic idiopathic hypogonadotropic hypogonadism (nIHH); Anosmia; GnRH deficiency; cleft lip and palate; renal agenesis; Hypogonadotropic hypogonadism; low testosterone/ estradiol; Absent/ partial Puberty; Hearing loss
Growth failure v0.370 PROKR2 Zornitza Stark Publications for gene: PROKR2 were set to 22319038
Growth failure v0.369 PROKR2 Zornitza Stark Mode of inheritance for gene: PROKR2 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Growth failure v0.368 RPL10 Danielle Ariti Deleted their comment
Growth failure v0.368 RPL10 Danielle Ariti changed review comment from: 9 males from 3 unrelated families reported with hemizygous missense (altering highly conserved residue) variants in RPL10 gene; one mouse model.

Patients typically present with intellectual disability, psychomotor delay, microcephaly, IUGR and severe growth restriction infancy-childhood (Short stature), genitourinary abnormalities, cerebellar syndrome, seizures and dysmorphic facial features.; to: 9 males from 3 unrelated families reported with hemizygous missense (altering highly conserved residue) variants in RPL10 gene; one mouse model.

Patients typically present with intellectual disability, psychomotor delay, microcephaly, IUGR and severe growth restriction infancy-childhood (Short stature), genitourinary abnormalities, cerebellar syndrome, seizures and dysmorphic facial features.
Growth failure v0.368 RPL10 Danielle Ariti edited their review of gene: RPL10: Added comment: 9 males from 3 unrelated families reported with hemizygous missense (altering highly conserved residue) variants in RPL10 gene; one mouse model.

Patients typically present with intellectual disability, psychomotor delay, microcephaly, IUGR and severe growth restriction infancy-childhood (Short stature), genitourinary abnormalities, cerebellar syndrome, seizures and dysmorphic facial features.; Changed phenotypes: Intellectual developmental disorder, X-linked, syndromic, 35 MIM# 300998, severe growth retardation, intrauterine growth restriction, short stature, dysmorphic facial features (prognathism, dental crowding, thin upper lip), microcephaly, seizures, hypotonia, genitourinary abnormalities, cerebellar hypoplasia
Growth failure v0.368 RPL10 Danielle Ariti changed review comment from: 9 males from 3 unrelated families reported with hemizygous missense (altering highly conserved residue) variants in RPL10 gene; one mouse model.

Patients typically present with intellectual disability, psychomotor delay, microcephaly, IUGR and severe growth restriction infancy-childhood, genitourinary abnormalities, cerebellar syndrome, seizures and dysmorphic facial features.; to: 9 males from 3 unrelated families reported with hemizygous missense (altering highly conserved residue) variants in RPL10 gene; one mouse model.

Patients typically present with intellectual disability, psychomotor delay, microcephaly, IUGR and severe growth restriction infancy-childhood (Short stature), genitourinary abnormalities, cerebellar syndrome, seizures and dysmorphic facial features.
Growth failure v0.368 RPL10 Danielle Ariti changed review comment from: 9 males from 3 unrelated families reported with hemizygous missense (altering highly conserved residue) variants in RPL10 gene; one mouse model.

Patients typically present with intellectual disability, psychomotor delay, microcephaly, severe growth restriction (IUGR), genitourinary abnormalities, cerebellar syndrome, seizures and dysmorphic facial features.; to: 9 males from 3 unrelated families reported with hemizygous missense (altering highly conserved residue) variants in RPL10 gene; one mouse model.

Patients typically present with intellectual disability, psychomotor delay, microcephaly, IUGR and severe growth restriction infancy-childhood, genitourinary abnormalities, cerebellar syndrome, seizures and dysmorphic facial features.
Growth failure v0.368 RPL10 Danielle Ariti reviewed gene: RPL10: Rating: GREEN; Mode of pathogenicity: None; Publications: 25316788, 25846674, 26290468; Phenotypes: Intellectual developmental disorder, X-linked, syndromic, 35 MIM# 300998, severe growth retardation, intrauterine growth restriction, dysmorphic facial features (prognathism, dental crowding, thin upper lip), microcephaly, seizures, hypotonia, genitourinary abnormalities, cerebellar hypoplasia; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Growth failure v0.368 PROKR2 Danielle Ariti Deleted their comment
Growth failure v0.368 PROKR2 Danielle Ariti edited their review of gene: PROKR2: Added comment: Autosomal dominant disorder, however often association with mutations in other genes (KAL1 and FGFR1).

Over 20 unrelated individuals with the disorder displaying heterozygous (frameshift/missense) variants.

Anosmia accompanied by GnRH deficiency and delayed puberty are the typical features.
Associated phenotypes such as cleft lip and palate, renal agenesis, and other neurological and skeletal abnormalities occur with variable frequency.

Growth failure/ short stature in early childhood is not a prominent feature; Changed rating: RED
Growth failure v0.368 PROKR2 Danielle Ariti changed review comment from: Autosomal dominant disorder, however often association with mutations in other genes (KAL1 and FGFR1) and

Over 20 unrelated individuals with the disorder displaying heterozygous (frameshift/missense) variants.

Anosmia accompanied by GnRH deficiency and delayed puberty are the typical features.
Associated phenotypes such as cleft lip and palate, renal agenesis, and other neurological and skeletal abnormalities occur with variable frequency.

Growth failure/ short stature is not a prominent feature; to: Autosomal dominant disorder, however often association with mutations in other genes (KAL1 and FGFR1).

Over 20 unrelated individuals with the disorder displaying heterozygous (frameshift/missense) variants.

Anosmia accompanied by GnRH deficiency and delayed puberty are the typical features.
Associated phenotypes such as cleft lip and palate, renal agenesis, and other neurological and skeletal abnormalities occur with variable frequency.

Growth failure/ short stature is not a prominent feature
Growth failure v0.368 ROR2 Danielle Ariti reviewed gene: ROR2: Rating: GREEN; Mode of pathogenicity: None; Publications: 10932186, 10932187, 10986040, 19461659; Phenotypes: Robinow syndrome, autosomal recessive MIM# 268310, hypertelorism, short stature, mesomelic shortening of the limbs, hypoplastic genitalia, rib/vertebral anomalies, abnormal morphogenesis of the face, Brachydactyly, type B1 MIM# 113000, hypoplasia/aplasia of distal phalanges and nails (2-5); Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Growth failure v0.368 PROP1 Danielle Ariti reviewed gene: PROP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301521, 31090814; Phenotypes: Pituitary hormone deficiency, combined, 2 MIM# 262600, Ateliotic dwarfism with hypogonadism, growth failure, short stature, failure to thrive, absent sexual development at puberty, GH, PRL, TSH, LH, and FSH deficiency, pituitary hypoplasia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Growth failure v0.368 PROKR2 Danielle Ariti changed review comment from: Autosomal dominant disorder, however often association with mutations in other genes (KAL1 and FGFR1) and

Over 20 unrelated individuals with the disorder displaying heterozygous (frameshift/missense) variants.

Anosmia accompanied by GnRH deficiency and delayed puberty are the typical features.
Associated phenotypes such as cleft lip and palate, renal agenesis, and other neurological and skeletal abnormalities occur with variable frequency.

Growth failure/ short stature is not a prominent feature; to: Autosomal dominant disorder, however often association with mutations in other genes (KAL1 and FGFR1) and

Over 20 unrelated individuals with the disorder displaying heterozygous (frameshift/missense) variants.

Anosmia accompanied by GnRH deficiency and delayed puberty are the typical features.
Associated phenotypes such as cleft lip and palate, renal agenesis, and other neurological and skeletal abnormalities occur with variable frequency.

Growth failure/ short stature is not a prominent feature
Growth failure v0.368 PROKR2 Danielle Ariti Deleted their comment
Growth failure v0.368 PROKR2 Danielle Ariti edited their review of gene: PROKR2: Added comment: Autosomal dominant disorder, however often association with mutations in other genes (KAL1 and FGFR1) and

Over 20 unrelated individuals with the disorder displaying heterozygous (frameshift/missense) variants.

Anosmia accompanied by GnRH deficiency and delayed puberty are the typical features.
Associated phenotypes such as cleft lip and palate, renal agenesis, and other neurological and skeletal abnormalities occur with variable frequency.

Growth failure/ short stature is not a prominent feature; Changed rating: AMBER
Growth failure v0.368 PROKR2 Danielle Ariti reviewed gene: PROKR2: Rating: RED; Mode of pathogenicity: None; Publications: 18559922, 29161432, 17054399; Phenotypes: Hypogonadotropic hypogonadism 3 with or without anosmia MIM# 244200, Kallmann syndrome (KS), normosmic idiopathic hypogonadotropic hypogonadism (nIHH), Anosmia, GnRH deficiency, cleft lip and palate, renal agenesis, Hypogonadotropic hypogonadism, low testosterone/ estradiol, Absent/ partial Puberty, Hearing loss; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Growth failure v0.368 PROKR2 Danielle Ariti Deleted their review
Growth failure v0.368 PROKR2 Danielle Ariti Deleted their comment
Growth failure v0.368 PROKR2 Danielle Ariti edited their review of gene: PROKR2: Added comment: Autosomal dominant disorder, however often association with mutations in other genes (KAL1 and FGFR1) and

Over 20 unrelated individuals with the disorder displaying heterozygous (frameshift/missense) variants.

Anosmia accompanied by GnRH deficiency and delayed puberty are the typical features.
Associated phenotypes such as cleft lip and palate, renal agenesis, and other neurological and skeletal abnormalities occur with variable frequency.

Growth failure is not a prominent feature; Changed rating: AMBER
Growth failure v0.368 PROKR2 Danielle Ariti reviewed gene: PROKR2: Rating: RED; Mode of pathogenicity: None; Publications: 18559922, 29161432, 17054399; Phenotypes: Hypogonadotropic hypogonadism 3 with or without anosmia MIM# 244200, Kallmann syndrome (KS), Normosmic idiopathic hypogonadotropic hypogonadism (nIHH), Anosmia, GnRH deficiency, cleft lip and palate, renal agenesis, Hypogonadotropic hypogonadism, low testosterone/ estradiol, Absent/partial Puberty, Hearing loss; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Growth failure v0.368 WRN Zornitza Stark Marked gene: WRN as ready
Growth failure v0.368 WRN Zornitza Stark Gene: wrn has been classified as Green List (High Evidence).
Growth failure v0.368 WRN Zornitza Stark Phenotypes for gene: WRN were changed from Werner syndrome to Werner syndrome, MIM# 277700; MONDO:0010196
Growth failure v0.367 WRN Zornitza Stark Publications for gene: WRN were set to
Growth failure v0.366 WRN Zornitza Stark Classified gene: WRN as Green List (high evidence)
Growth failure v0.366 WRN Zornitza Stark Gene: wrn has been classified as Green List (High Evidence).
Growth failure v0.365 WRN Zornitza Stark reviewed gene: WRN: Rating: GREEN; Mode of pathogenicity: None; Publications: 28476236, 8602509, 8968742, 9012406; Phenotypes: Werner syndrome, MIM# 277700, MONDO:0010196; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Growth failure v0.365 POU1F1 Zornitza Stark Marked gene: POU1F1 as ready
Growth failure v0.365 POU1F1 Zornitza Stark Gene: pou1f1 has been classified as Green List (High Evidence).
Growth failure v0.365 POU1F1 Zornitza Stark Phenotypes for gene: POU1F1 were changed from GH, PRL deficiencies; variable degree of TSH deficiency to Pituitary hormone deficiency, combined, 1 MIM# 613038; pituitary hypoplasia; severe growth failure; combined GH, PRL and TSH deficiency; distinct facial features (prominent forehead, mid-facial hypoplasia, depressed nasal bridge, deep-set eyes and a short nose with anteverted nostrils)
Growth failure v0.364 POU1F1 Zornitza Stark Publications for gene: POU1F1 were set to
Growth failure v0.363 POU1F1 Zornitza Stark Classified gene: POU1F1 as Green List (high evidence)
Growth failure v0.363 POU1F1 Zornitza Stark Gene: pou1f1 has been classified as Green List (High Evidence).
Growth failure v0.362 POU1F1 Danielle Ariti reviewed gene: POU1F1: Rating: GREEN; Mode of pathogenicity: None; Publications: 1302000, 1472057, 9392392, 15928241, 7833912, 12773133; Phenotypes: Pituitary hormone deficiency, combined, 1 MIM# 613038, pituitary hypoplasia, severe growth failure, combined GH, PRL and TSH deficiency, distinct facial features (prominent forehead, mid-facial hypoplasia, depressed nasal bridge, deep-set eyes and a short nose with anteverted nostrils); Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Growth failure v0.362 PNPLA6 Zornitza Stark Marked gene: PNPLA6 as ready
Growth failure v0.362 PNPLA6 Zornitza Stark Gene: pnpla6 has been classified as Green List (High Evidence).
Growth failure v0.362 PNPLA6 Zornitza Stark Phenotypes for gene: PNPLA6 were changed from Oliver-Mcfarlane syndrome, Trichomegaly, GH deficiency, retinal dystrophy, hypogonadotrophic hypogonadism to Oliver-McFarlane syndrome, MIM# 275400; Laurence-Moon syndrome, MIM# 245800
Growth failure v0.361 PNPLA6 Zornitza Stark Publications for gene: PNPLA6 were set to 25480986
Growth failure v0.360 PNPLA6 Zornitza Stark Classified gene: PNPLA6 as Green List (high evidence)
Growth failure v0.360 PNPLA6 Zornitza Stark Gene: pnpla6 has been classified as Green List (High Evidence).
Growth failure v0.359 PNPLA6 Zornitza Stark reviewed gene: PNPLA6: Rating: GREEN; Mode of pathogenicity: None; Publications: 25480986, 33818269, 32758583, 30097146; Phenotypes: Oliver-McFarlane syndrome, MIM# 275400, Laurence-Moon syndrome, MIM# 245800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Growth failure v0.359 PITX2 Zornitza Stark Marked gene: PITX2 as ready
Growth failure v0.359 PITX2 Zornitza Stark Gene: pitx2 has been classified as Green List (High Evidence).
Growth failure v0.359 PITX2 Zornitza Stark Phenotypes for gene: PITX2 were changed from AXENFELD-RIEGER SYNDROME to Axenfeld-Rieger syndrome, type 1, MIM# 180500
Growth failure v0.358 PITX2 Zornitza Stark Classified gene: PITX2 as Green List (high evidence)
Growth failure v0.358 PITX2 Zornitza Stark Gene: pitx2 has been classified as Green List (High Evidence).
Growth failure v0.357 PITX2 Zornitza Stark reviewed gene: PITX2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Axenfeld-Rieger syndrome, type 1, MIM# 180500; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Growth failure v0.357 OTX2 Zornitza Stark Marked gene: OTX2 as ready
Growth failure v0.357 OTX2 Zornitza Stark Gene: otx2 has been classified as Green List (High Evidence).
Growth failure v0.357 OTX2 Zornitza Stark Phenotypes for gene: OTX2 were changed from Microcephaly, bilateral anopthalmia, developmental delay, cleft palate to Pituitary hormone deficiency, combined, 6, MIM# 613986; Microphthalmia, syndromic 5, MIM# 610125
Growth failure v0.356 OTX2 Zornitza Stark Publications for gene: OTX2 were set to 18728160
Growth failure v0.355 OTX2 Zornitza Stark Classified gene: OTX2 as Green List (high evidence)
Growth failure v0.355 OTX2 Zornitza Stark Gene: otx2 has been classified as Green List (High Evidence).
Growth failure v0.354 OTX2 Zornitza Stark reviewed gene: OTX2: Rating: GREEN; Mode of pathogenicity: None; Publications: 18728160, 33950863, 15846561; Phenotypes: Pituitary hormone deficiency, combined, 6, MIM# 613986, Microphthalmia, syndromic 5, MIM# 610125; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Growth failure v0.354 MCM5 Zornitza Stark Marked gene: MCM5 as ready
Growth failure v0.354 MCM5 Zornitza Stark Gene: mcm5 has been classified as Red List (Low Evidence).
Growth failure v0.354 MCM5 Zornitza Stark Phenotypes for gene: MCM5 were changed from ?Meier-Gorlin syndrome 8 to Meier-Gorlin syndrome 8 (MIM#617564)
Growth failure v0.353 MCM5 Zornitza Stark reviewed gene: MCM5: Rating: RED; Mode of pathogenicity: None; Publications: 28198391; Phenotypes: Meier-Gorlin syndrome 8 (MIM#617564); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Growth failure v0.353 LIG1 Zornitza Stark Marked gene: LIG1 as ready
Growth failure v0.353 LIG1 Zornitza Stark Gene: lig1 has been classified as Green List (High Evidence).
Growth failure v0.353 LIG1 Zornitza Stark Phenotypes for gene: LIG1 were changed from immunodeficiency, sun sensitivity, growth reatrdation to Combined immunodeficiency; Lymphopaenia; Hypogammaglobulinaemia; Recurrent bacterial and viral infections; Growth retardation; Sun sensitivity, radiation sensitivity; Macrocytosis
Growth failure v0.352 LIG1 Zornitza Stark Publications for gene: LIG1 were set to 1581963, 1351188
Growth failure v0.351 LIG1 Zornitza Stark Classified gene: LIG1 as Green List (high evidence)
Growth failure v0.351 LIG1 Zornitza Stark Gene: lig1 has been classified as Green List (High Evidence).
Growth failure v0.350 LIG1 Zornitza Stark reviewed gene: LIG1: Rating: GREEN; Mode of pathogenicity: None; Publications: 30395541; Phenotypes: Combined immunodeficiency, Lymphopaenia, Hypogammaglobulinaemia, Recurrent bacterial and viral infections, Growth retardation, Sun sensitivity, radiation sensitivity, Macrocytosis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Growth failure v0.350 LHX4 Zornitza Stark Marked gene: LHX4 as ready
Growth failure v0.350 LHX4 Zornitza Stark Gene: lhx4 has been classified as Green List (High Evidence).
Growth failure v0.350 LHX4 Zornitza Stark Phenotypes for gene: LHX4 were changed from hypopituitarism to Pituitary hormone deficiency, combined, 4, MIM# 262700
Growth failure v0.349 LHX4 Zornitza Stark Publications for gene: LHX4 were set to 11567216, 18073311
Growth failure v0.348 LHX4 Zornitza Stark Classified gene: LHX4 as Green List (high evidence)
Growth failure v0.348 LHX4 Zornitza Stark Gene: lhx4 has been classified as Green List (High Evidence).
Growth failure v0.347 LHX4 Zornitza Stark reviewed gene: LHX4: Rating: GREEN; Mode of pathogenicity: None; Publications: 11567216, 17527005, 18073311; Phenotypes: Pituitary hormone deficiency, combined, 4, MIM# 262700; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Growth failure v0.347 LHX3 Zornitza Stark Marked gene: LHX3 as ready
Growth failure v0.347 LHX3 Zornitza Stark Gene: lhx3 has been classified as Green List (High Evidence).
Growth failure v0.347 LHX3 Zornitza Stark Phenotypes for gene: LHX3 were changed from GH, TSH, LH, FSH, PRL deficiencies to Pituitary hormone deficiency, combined, 3, MIM# 221750
Growth failure v0.346 LHX3 Zornitza Stark Publications for gene: LHX3 were set to
Growth failure v0.345 LHX3 Zornitza Stark Classified gene: LHX3 as Green List (high evidence)
Growth failure v0.345 LHX3 Zornitza Stark Gene: lhx3 has been classified as Green List (High Evidence).
Growth failure v0.344 LHX3 Zornitza Stark reviewed gene: LHX3: Rating: GREEN; Mode of pathogenicity: None; Publications: 10835633, 16394081, 17327381, 18407919; Phenotypes: Pituitary hormone deficiency, combined, 3, MIM# 221750; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Growth failure v0.344 KHDC3L Zornitza Stark Marked gene: KHDC3L as ready
Growth failure v0.344 KHDC3L Zornitza Stark Gene: khdc3l has been classified as Red List (Low Evidence).
Growth failure v0.344 KHDC3L Zornitza Stark Phenotypes for gene: KHDC3L were changed from pregnancy loss; Hydatidiform mole, recurrent, 2 OMIM:614293; hydatidiform mole, recurrent, 2 MONDO:0013671; Failure to thrive; IUGR to Silver-Russell syndrome
Growth failure v0.343 KHDC3L Zornitza Stark Mode of inheritance for gene: KHDC3L was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal to Other
Growth failure v0.342 KHDC3L Zornitza Stark reviewed gene: KHDC3L: Rating: RED; Mode of pathogenicity: None; Publications: 29574422; Phenotypes: Silver-Russell syndrome; Mode of inheritance: Other
Growth failure v0.342 Zornitza Stark removed gene:INTS8 from the panel
Growth failure v0.341 INSR Zornitza Stark Marked gene: INSR as ready
Growth failure v0.341 INSR Zornitza Stark Gene: insr has been classified as Green List (High Evidence).
Growth failure v0.341 INSR Zornitza Stark Phenotypes for gene: INSR were changed from Leprechaunism to Leprechaunism, MIM# 246200; Rabson-Mendenhall syndrome, MIM# 262190
Growth failure v0.340 INSR Zornitza Stark Publications for gene: INSR were set to
Growth failure v0.339 INSR Zornitza Stark Classified gene: INSR as Green List (high evidence)
Growth failure v0.339 INSR Zornitza Stark Gene: insr has been classified as Green List (High Evidence).
Growth failure v0.338 INSR Zornitza Stark reviewed gene: INSR: Rating: GREEN; Mode of pathogenicity: None; Publications: 8105179, 7815442, 33995269, 33224016, 33048476, 2121734, 9449692; Phenotypes: Leprechaunism, MIM# 246200, Rabson-Mendenhall syndrome, MIM# 262190; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Growth failure v0.338 IGFALS Zornitza Stark Marked gene: IGFALS as ready
Growth failure v0.338 IGFALS Zornitza Stark Gene: igfals has been classified as Green List (High Evidence).
Growth failure v0.338 IGFALS Zornitza Stark Phenotypes for gene: IGFALS were changed from very low IGF-I levels; Short stature; delayed puberty to Acid-labile subunit, deficiency of, MIM# 615961
Growth failure v0.337 IGFALS Zornitza Stark Publications for gene: IGFALS were set to 14762184
Growth failure v0.336 IGFALS Zornitza Stark Classified gene: IGFALS as Green List (high evidence)
Growth failure v0.336 IGFALS Zornitza Stark Gene: igfals has been classified as Green List (High Evidence).
Growth failure v0.335 IGFALS Zornitza Stark edited their review of gene: IGFALS: Changed rating: GREEN
Growth failure v0.335 IGFALS Zornitza Stark reviewed gene: IGFALS: Rating: ; Mode of pathogenicity: None; Publications: 14762184, 21396577, 34136918; Phenotypes: Acid-labile subunit, deficiency of, MIM# 615961; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Growth failure v0.335 IFT172 Zornitza Stark Marked gene: IFT172 as ready
Growth failure v0.335 IFT172 Zornitza Stark Gene: ift172 has been classified as Red List (Low Evidence).
Growth failure v0.335 IFT172 Zornitza Stark reviewed gene: IFT172: Rating: RED; Mode of pathogenicity: None; Publications: 25664603; Phenotypes: GH deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Growth failure v0.335 SAMD9 Zornitza Stark Marked gene: SAMD9 as ready
Growth failure v0.335 SAMD9 Zornitza Stark Gene: samd9 has been classified as Green List (High Evidence).
Growth failure v0.335 SAMD9 Zornitza Stark Classified gene: SAMD9 as Green List (high evidence)
Growth failure v0.335 SAMD9 Zornitza Stark Gene: samd9 has been classified as Green List (High Evidence).
Growth failure v0.334 SAMD9 Zornitza Stark reviewed gene: SAMD9: Rating: GREEN; Mode of pathogenicity: None; Publications: 27182967; Phenotypes: MIRAGE syndrome, MIM#617053; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Growth failure v0.334 HESX1 Zornitza Stark Marked gene: HESX1 as ready
Growth failure v0.334 HESX1 Zornitza Stark Gene: hesx1 has been classified as Green List (High Evidence).
Growth failure v0.334 HESX1 Zornitza Stark Phenotypes for gene: HESX1 were changed from Septo-optic dysplasia; variable involvement of pituitary hormones to Septooptic dysplasia, MIM# 182230; Growth hormone deficiency with pituitary anomalies, MIM#182230
Growth failure v0.333 HESX1 Zornitza Stark Publications for gene: HESX1 were set to
Growth failure v0.332 HESX1 Zornitza Stark Classified gene: HESX1 as Green List (high evidence)
Growth failure v0.332 HESX1 Zornitza Stark Gene: hesx1 has been classified as Green List (High Evidence).
Growth failure v0.331 HESX1 Zornitza Stark reviewed gene: HESX1: Rating: GREEN; Mode of pathogenicity: None; Publications: 14561704, 26781211, 11136712, 16940453; Phenotypes: Septooptic dysplasia, MIM# 182230, Growth hormone deficiency with pituitary anomalies, MIM#182230; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Growth failure v0.331 H19 Zornitza Stark Marked gene: H19 as ready
Growth failure v0.331 H19 Zornitza Stark Gene: h19 has been classified as Red List (Low Evidence).
Growth failure v0.331 H19 Zornitza Stark Phenotypes for gene: H19 were changed from Russell-Silver syndrome to Silver-Russell syndrome, MIM# 180860
Growth failure v0.330 H19 Zornitza Stark Mode of inheritance for gene: H19 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Growth failure v0.329 H19 Zornitza Stark reviewed gene: H19: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Silver-Russell syndrome, MIM# 180860; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Growth failure v0.329 GPR161 Zornitza Stark Marked gene: GPR161 as ready
Growth failure v0.329 GPR161 Zornitza Stark Gene: gpr161 has been classified as Red List (Low Evidence).
Growth failure v0.329 GPR161 Zornitza Stark Phenotypes for gene: GPR161 were changed from Short stature with hypopituitarism, intellectual disability, sparse or absent hair in the frontal area, hypotelorism, broad nasal root, thick alae nasi, nail hypoplasia, short fifth finger, 2-3 toe syndactyl. MRI showed hypoplastic pituitary gland, empty sella, ectopic neurohypophysis, and interrupted pituitary stalk to Pituitary stalk interruption syndrome
Growth failure v0.328 GPR161 Zornitza Stark changed review comment from: Two sisters reported with homozygous variant in this gene and short stature with hypopituitarism, intellectual disability, sparse or absent hair in the frontal area, hypotelorism, broad nasal root, thick alae nasi, nail hypoplasia, short fifth finger, 2-3 toe syndactyl. MRI showed hypoplastic pituitary gland, empty sella, ectopic neurohypophysis, and interrupted pituitary stalk.; to: Two sisters reported with homozygous variant in this gene and short stature with hypopituitarism, intellectual disability, sparse or absent hair in the frontal area, hypotelorism, broad nasal root, thick alae nasi, nail hypoplasia, short fifth finger, 2-3 toe syndactyly. MRI showed hypoplastic pituitary gland, empty sella, ectopic neurohypophysis, and interrupted pituitary stalk.
Growth failure v0.328 GPR161 Zornitza Stark reviewed gene: GPR161: Rating: RED; Mode of pathogenicity: None; Publications: 25322266; Phenotypes: Pituitary stalk interruption syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Growth failure v0.328 GLI3 Zornitza Stark Marked gene: GLI3 as ready
Growth failure v0.328 GLI3 Zornitza Stark Gene: gli3 has been classified as Green List (High Evidence).
Growth failure v0.328 GLI3 Zornitza Stark Phenotypes for gene: GLI3 were changed from Pallister-Hall syndrome to Pallister-Hall syndrome, MIM# 146510
Growth failure v0.327 GLI3 Zornitza Stark Publications for gene: GLI3 were set to 9054938
Growth failure v0.326 GLI3 Zornitza Stark Classified gene: GLI3 as Green List (high evidence)
Growth failure v0.326 GLI3 Zornitza Stark Gene: gli3 has been classified as Green List (High Evidence).
Growth failure v0.325 GLI3 Zornitza Stark reviewed gene: GLI3: Rating: GREEN; Mode of pathogenicity: None; Publications: 9054938, 10945658, 11693785; Phenotypes: Pallister-Hall syndrome, MIM# 146510; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Growth failure v0.325 TRIM37 Zornitza Stark Marked gene: TRIM37 as ready
Growth failure v0.325 TRIM37 Zornitza Stark Gene: trim37 has been classified as Green List (High Evidence).
Growth failure v0.325 TRIM37 Zornitza Stark Phenotypes for gene: TRIM37 were changed from Mulibrey nanism; Mulibery Nanism, 253250 to Mulibery nanism, MIM#253250
Growth failure v0.324 TRIM37 Zornitza Stark Publications for gene: TRIM37 were set to
Growth failure v0.323 GLI2 Zornitza Stark Marked gene: GLI2 as ready
Growth failure v0.323 GLI2 Zornitza Stark Gene: gli2 has been classified as Green List (High Evidence).
Growth failure v0.323 GLI2 Zornitza Stark Phenotypes for gene: GLI2 were changed from Holoprosencephaly, hypopituitarism to Culler-Jones syndrome, MIM#615849; Holoprosencephaly 9, MIM# 61082
Growth failure v0.322 GLI2 Zornitza Stark Publications for gene: GLI2 were set to
Growth failure v0.321 GLI2 Zornitza Stark Classified gene: GLI2 as Green List (high evidence)
Growth failure v0.321 GLI2 Zornitza Stark Gene: gli2 has been classified as Green List (High Evidence).
Growth failure v0.320 GLI2 Zornitza Stark reviewed gene: GLI2: Rating: GREEN; Mode of pathogenicity: None; Publications: 14581620, 17096318, 33235745, 27585885, 15994174, 20685856, 30629636, 30583238; Phenotypes: Culler-Jones syndrome, MIM#615849, Holoprosencephaly 9, MIM# 61082); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Growth failure v0.320 GHSR Zornitza Stark edited their review of gene: GHSR: Changed publications: 25557026, 19789204, 16511605
Growth failure v0.320 GHSR Zornitza Stark Marked gene: GHSR as ready
Growth failure v0.320 GHSR Zornitza Stark Gene: ghsr has been classified as Amber List (Moderate Evidence).
Growth failure v0.320 GHSR Zornitza Stark Phenotypes for gene: GHSR were changed from Idiopathic short stature, GH deficiency to Growth hormone deficiency, isolated partial, MIM# 615925
Growth failure v0.319 GHSR Zornitza Stark Publications for gene: GHSR were set to 16511605
Growth failure v0.318 GHSR Zornitza Stark Classified gene: GHSR as Amber List (moderate evidence)
Growth failure v0.318 GHSR Zornitza Stark Gene: ghsr has been classified as Amber List (Moderate Evidence).
Growth failure v0.317 GHSR Zornitza Stark reviewed gene: GHSR: Rating: AMBER; Mode of pathogenicity: None; Publications: 25557026, 19789204; Phenotypes: Growth hormone deficiency, isolated partial, MIM# 615925; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Growth failure v0.317 GHRHR Zornitza Stark Marked gene: GHRHR as ready
Growth failure v0.317 GHRHR Zornitza Stark Gene: ghrhr has been classified as Green List (High Evidence).
Growth failure v0.317 GHRHR Zornitza Stark Phenotypes for gene: GHRHR were changed from Growth hormone deficiency to Growth hormone deficiency, isolated, type IV, MIM# 618157
Growth failure v0.316 GHRHR Zornitza Stark Publications for gene: GHRHR were set to
Growth failure v0.315 GHRHR Zornitza Stark Classified gene: GHRHR as Green List (high evidence)
Growth failure v0.315 GHRHR Zornitza Stark Gene: ghrhr has been classified as Green List (High Evidence).
Growth failure v0.314 GHRHR Zornitza Stark reviewed gene: GHRHR: Rating: GREEN; Mode of pathogenicity: None; Publications: 8528260, 10084571, 11232012; Phenotypes: Growth hormone deficiency, isolated, type IV, MIM# 618157; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Growth failure v0.314 GHR Zornitza Stark Marked gene: GHR as ready
Growth failure v0.314 GHR Zornitza Stark Gene: ghr has been classified as Green List (High Evidence).
Growth failure v0.314 GHR Zornitza Stark Phenotypes for gene: GHR were changed from Laron syndrome to Growth hormone insensitivity, partial, MIM# 604271; Laron dwarfism, MIM# 262500
Growth failure v0.313 GHR Zornitza Stark Publications for gene: GHR were set to
Growth failure v0.312 GHR Zornitza Stark Mode of inheritance for gene: GHR was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Growth failure v0.311 GHR Zornitza Stark Classified gene: GHR as Green List (high evidence)
Growth failure v0.311 GHR Zornitza Stark Gene: ghr has been classified as Green List (High Evidence).
Growth failure v0.310 GHR Zornitza Stark reviewed gene: GHR: Rating: GREEN; Mode of pathogenicity: None; Publications: 1999489, 8488849, 7565946; Phenotypes: Growth hormone insensitivity, partial, MIM# 604271, Laron dwarfism, MIM# 262500; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Growth failure v0.310 GH1 Zornitza Stark Marked gene: GH1 as ready
Growth failure v0.310 GH1 Zornitza Stark Gene: gh1 has been classified as Green List (High Evidence).
Growth failure v0.310 GH1 Zornitza Stark Phenotypes for gene: GH1 were changed from Growth hormone deficiency to Growth hormone deficiency, isolated, type IA, MIM# 262400; Growth hormone deficiency, isolated, type II, MIM# 173100; Kowarski syndrome, MIM# 262650
Growth failure v0.309 GH1 Zornitza Stark Publications for gene: GH1 were set to
Growth failure v0.308 GH1 Zornitza Stark Classified gene: GH1 as Green List (high evidence)
Growth failure v0.308 GH1 Zornitza Stark Gene: gh1 has been classified as Green List (High Evidence).
Growth failure v0.307 GH1 Zornitza Stark reviewed gene: GH1: Rating: GREEN; Mode of pathogenicity: None; Publications: 2840669, 1603635, 12655557, 15671105, 8552145, 9276733, 15713716; Phenotypes: Growth hormone deficiency, isolated, type IA, MIM# 262400, Growth hormone deficiency, isolated, type II, MIM# 173100, Kowarski syndrome, MIM# 262650; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Growth failure v0.307 Zornitza Stark removed gene:FGFR1 from the panel
Growth failure v0.306 Zornitza Stark removed gene:FGF8 from the panel
Growth failure v0.305 Zornitza Stark removed gene:EPHX1 from the panel
Growth failure v0.304 EP300 Zornitza Stark Marked gene: EP300 as ready
Growth failure v0.304 EP300 Zornitza Stark Gene: ep300 has been classified as Green List (High Evidence).
Growth failure v0.304 EP300 Zornitza Stark Phenotypes for gene: EP300 were changed from Rubenstein Taybi to Rubinstein-Taybi syndrome 2, MIM# 613684; Menke-Hennekam syndrome , MIM#2 618333
Growth failure v0.303 EP300 Zornitza Stark Publications for gene: EP300 were set to
Growth failure v0.302 EP300 Zornitza Stark Classified gene: EP300 as Green List (high evidence)
Growth failure v0.302 EP300 Zornitza Stark Gene: ep300 has been classified as Green List (High Evidence).
Growth failure v0.301 EP300 Zornitza Stark reviewed gene: EP300: Rating: GREEN; Mode of pathogenicity: None; Publications: 29506490, 29460469; Phenotypes: Rubinstein-Taybi syndrome 2, MIM# 613684, Menke-Hennekam syndrome , MIM#2 618333; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Growth failure v0.301 Zornitza Stark removed gene:COL1A1 from the panel
Growth failure v0.300 Zornitza Stark removed gene:DOK7 from the panel
Growth failure v0.299 DHCR7 Zornitza Stark Marked gene: DHCR7 as ready
Growth failure v0.299 DHCR7 Zornitza Stark Gene: dhcr7 has been classified as Green List (High Evidence).
Growth failure v0.299 DHCR7 Zornitza Stark Phenotypes for gene: DHCR7 were changed from Smith Lemli Opitz to Smith-Lemli-Opitz syndrome, MIM#270400
Growth failure v0.298 DHCR7 Zornitza Stark Classified gene: DHCR7 as Green List (high evidence)
Growth failure v0.298 DHCR7 Zornitza Stark Gene: dhcr7 has been classified as Green List (High Evidence).
Growth failure v0.297 DHCR7 Zornitza Stark reviewed gene: DHCR7: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Smith-Lemli-Opitz syndrome, MIM#270400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Growth failure v0.297 CREBBP Zornitza Stark Marked gene: CREBBP as ready
Growth failure v0.297 CREBBP Zornitza Stark Gene: crebbp has been classified as Green List (High Evidence).
Growth failure v0.297 CREBBP Zornitza Stark Phenotypes for gene: CREBBP were changed from Rubenstein Taybi to Rubinstein-Taybi syndrome 1, MIM# 180849; Menke-Hennekam syndrome 1, MIM# 618332
Growth failure v0.296 CREBBP Zornitza Stark Publications for gene: CREBBP were set to
Growth failure v0.295 CREBBP Zornitza Stark Classified gene: CREBBP as Green List (high evidence)
Growth failure v0.295 CREBBP Zornitza Stark Gene: crebbp has been classified as Green List (High Evidence).
Growth failure v0.294 CREBBP Zornitza Stark reviewed gene: CREBBP: Rating: GREEN; Mode of pathogenicity: None; Publications: 10699051, 17855048, 27311832, 29460469; Phenotypes: Rubinstein-Taybi syndrome 1, MIM# 180849, Menke-Hennekam syndrome 1, MIM# 618332; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Growth failure v0.294 ATRX Zornitza Stark Marked gene: ATRX as ready
Growth failure v0.294 ATRX Zornitza Stark Gene: atrx has been classified as Green List (High Evidence).
Growth failure v0.294 ATRX Zornitza Stark Phenotypes for gene: ATRX were changed from SGA, which is sometimes called intrauterine growth restriction (IUGR), to Alpha-thalassemia/mental retardation syndrome, MIM# 301040; Mental retardation-hypotonic facies syndrome, X-linked, MIM# 309580
Growth failure v0.293 ATRX Zornitza Stark Publications for gene: ATRX were set to
Growth failure v0.292 ATRX Zornitza Stark Mode of inheritance for gene: ATRX was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Growth failure v0.291 ATRX Zornitza Stark Classified gene: ATRX as Green List (high evidence)
Growth failure v0.291 ATRX Zornitza Stark Gene: atrx has been classified as Green List (High Evidence).
Growth failure v0.290 ATRX Zornitza Stark reviewed gene: ATRX: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301622; Phenotypes: Alpha-thalassemia/mental retardation syndrome, MIM# 301040, Mental retardation-hypotonic facies syndrome, X-linked, MIM# 309580; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Growth failure v0.290 ZBTB24 Zornitza Stark Marked gene: ZBTB24 as ready
Growth failure v0.290 ZBTB24 Zornitza Stark Gene: zbtb24 has been classified as Green List (High Evidence).
Growth failure v0.290 ZBTB24 Zornitza Stark Classified gene: ZBTB24 as Green List (high evidence)
Growth failure v0.290 ZBTB24 Zornitza Stark Gene: zbtb24 has been classified as Green List (High Evidence).
Growth failure v0.289 ZBTB24 Zornitza Stark gene: ZBTB24 was added
gene: ZBTB24 was added to Growth failure in early childhood. Sources: Expert Review
Mode of inheritance for gene: ZBTB24 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ZBTB24 were set to 21596365; 21906047; 23486536
Phenotypes for gene: ZBTB24 were set to Immunodeficiency-centromeric instability-facial anomalies syndrome 2, MIM# 614069; MONDO:0013553
Review for gene: ZBTB24 was set to GREEN
Added comment: Immunodeficiency, centromeric instability, and facial dysmorphism (ICF) syndrome is characterized by facial dysmorphism, immunoglobulin deficiency resulting in recurrent infections, and intellectual disability. Laboratory studies of patient cells show hypomethylation of satellite regions of chromosomes 1, 9, and 16, as well as pericentromeric chromosomal instability in response to phytohaemagglutinin stimulation.

20 unrelated families reported. Short stature is a feature.
Sources: Expert Review
Growth failure v0.288 SPRTN Zornitza Stark Marked gene: SPRTN as ready
Growth failure v0.288 SPRTN Zornitza Stark Gene: sprtn has been classified as Green List (High Evidence).
Growth failure v0.288 SPRTN Zornitza Stark Classified gene: SPRTN as Green List (high evidence)
Growth failure v0.288 SPRTN Zornitza Stark Gene: sprtn has been classified as Green List (High Evidence).
Growth failure v0.287 SPRTN Zornitza Stark gene: SPRTN was added
gene: SPRTN was added to Growth failure in early childhood. Sources: Expert Review
Mode of inheritance for gene: SPRTN was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SPRTN were set to 25261934
Phenotypes for gene: SPRTN were set to Ruijs-Aalfs syndrome, MIM# 616200; MONDO:0014527
Review for gene: SPRTN was set to GREEN
Added comment: Two families with functional evidence for a DNA repair disorder; progeroid features and hepatocellular carcinoma reported as key features, as is short stature.
Sources: Expert Review
Growth failure v0.286 RNF168 Zornitza Stark Marked gene: RNF168 as ready
Growth failure v0.286 RNF168 Zornitza Stark Gene: rnf168 has been classified as Green List (High Evidence).
Growth failure v0.286 RNF168 Zornitza Stark Classified gene: RNF168 as Green List (high evidence)
Growth failure v0.286 RNF168 Zornitza Stark Gene: rnf168 has been classified as Green List (High Evidence).
Growth failure v0.285 RNF168 Zornitza Stark gene: RNF168 was added
gene: RNF168 was added to Growth failure in early childhood. Sources: Expert Review
Mode of inheritance for gene: RNF168 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RNF168 were set to 19203578; 21394101; 29255463; 21552324
Phenotypes for gene: RNF168 were set to RIDDLE syndrome MIM# 611943; Radiosensitivity; Immune Deficiency; Dysmorphic Features; Learning difficulties; Low IgG or IgA; Short stature; mild defect of motor control to ataxia; normal intelligence to learning difficulties; mild facial dysmorphism to microcephaly
Review for gene: RNF168 was set to GREEN
Added comment: 4 individuals from 3 unrelated families have been reported with RNF168 variants and display RIDDLE syndrome phenotype.

One mouse model; demonstrated RNF168 deficient mice are immunodeficient and exhibit increased radiosensitivity.

Homozygous and Compound heterozygous (duplications, deletions and nonsense) variants identified resulting in frameshift, aberrant protein and alteration of binding motifs.

Typically presents with increased radiosensitivity, immunodeficiency (decrease IgA), mild motor control and learning difficulties, facial dysmorphism, and short stature.
Sources: Expert Review
Growth failure v0.284 RECQL4 Zornitza Stark Marked gene: RECQL4 as ready
Growth failure v0.284 RECQL4 Zornitza Stark Gene: recql4 has been classified as Green List (High Evidence).
Growth failure v0.284 RECQL4 Zornitza Stark Classified gene: RECQL4 as Green List (high evidence)
Growth failure v0.284 RECQL4 Zornitza Stark Gene: recql4 has been classified as Green List (High Evidence).
Growth failure v0.283 RECQL4 Zornitza Stark gene: RECQL4 was added
gene: RECQL4 was added to Growth failure in early childhood. Sources: Expert Review
Mode of inheritance for gene: RECQL4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RECQL4 were set to 10319867; 12952869; 15964893
Phenotypes for gene: RECQL4 were set to Rothmund-Thomson syndrome, type 2, MIM# 268400; RAPADILINO syndrome, MIM# 266280; Baller-Gerold syndrome, MIM# 218600
Review for gene: RECQL4 was set to GREEN
Added comment: Gene encodes DNA helicase involved in DNA repair. Bi-allelic variants associated with a range of phenotypes. Short stature is a feature of these disorders.
Sources: Expert Review
Growth failure v0.282 RAD51C Zornitza Stark Marked gene: RAD51C as ready
Growth failure v0.282 RAD51C Zornitza Stark Gene: rad51c has been classified as Green List (High Evidence).
Growth failure v0.282 RAD51C Zornitza Stark Classified gene: RAD51C as Green List (high evidence)
Growth failure v0.282 RAD51C Zornitza Stark Gene: rad51c has been classified as Green List (High Evidence).
Growth failure v0.281 RAD51C Zornitza Stark gene: RAD51C was added
gene: RAD51C was added to Growth failure in early childhood. Sources: Expert Review
Mode of inheritance for gene: RAD51C was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RAD51C were set to 20400963; 29278735
Phenotypes for gene: RAD51C were set to Fanconi anaemia, complementation group O, MIM# 613390
Review for gene: RAD51C was set to GREEN
Added comment: Two unrelated families reported, excellent biological candidate for FA.
Sources: Expert Review
Growth failure v0.280 RAD51 Zornitza Stark Marked gene: RAD51 as ready
Growth failure v0.280 RAD51 Zornitza Stark Gene: rad51 has been classified as Green List (High Evidence).
Growth failure v0.280 RAD51 Zornitza Stark Classified gene: RAD51 as Green List (high evidence)
Growth failure v0.280 RAD51 Zornitza Stark Gene: rad51 has been classified as Green List (High Evidence).
Growth failure v0.279 RAD51 Zornitza Stark gene: RAD51 was added
gene: RAD51 was added to Growth failure in early childhood. Sources: Expert Review
Mode of inheritance for gene: RAD51 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RAD51 were set to 26253028; 26681308; 30907510
Phenotypes for gene: RAD51 were set to Fanconi anaemia, complementation group R, MIM# 617244
Review for gene: RAD51 was set to GREEN
Added comment: Three unrelated individuals reported with de novo missense variants in this gene.
Sources: Expert Review
Growth failure v0.278 RAD50 Zornitza Stark Marked gene: RAD50 as ready
Growth failure v0.278 RAD50 Zornitza Stark Gene: rad50 has been classified as Green List (High Evidence).
Growth failure v0.278 RAD50 Zornitza Stark Classified gene: RAD50 as Green List (high evidence)
Growth failure v0.278 RAD50 Zornitza Stark Gene: rad50 has been classified as Green List (High Evidence).
Growth failure v0.277 RAD50 Zornitza Stark gene: RAD50 was added
gene: RAD50 was added to Growth failure in early childhood. Sources: Expert Review
Mode of inheritance for gene: RAD50 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RAD50 were set to 19409520; 32212377; 33378670
Phenotypes for gene: RAD50 were set to Nijmegen breakage syndrome-like disorder, MIM# 613078; MONDO:0013118
Review for gene: RAD50 was set to GREEN
Added comment: Three unrelated families reported, short stature is a key feature.
Sources: Expert Review
Growth failure v0.276 NHEJ1 Zornitza Stark Marked gene: NHEJ1 as ready
Growth failure v0.276 NHEJ1 Zornitza Stark Gene: nhej1 has been classified as Green List (High Evidence).
Growth failure v0.276 NHEJ1 Zornitza Stark Classified gene: NHEJ1 as Green List (high evidence)
Growth failure v0.276 NHEJ1 Zornitza Stark Gene: nhej1 has been classified as Green List (High Evidence).
Growth failure v0.275 NHEJ1 Zornitza Stark gene: NHEJ1 was added
gene: NHEJ1 was added to Growth failure in early childhood. Sources: Expert Review
Mode of inheritance for gene: NHEJ1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NHEJ1 were set to 16439204; 16439205
Phenotypes for gene: NHEJ1 were set to Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation, MIM# 611291; MONDO:0012650
Review for gene: NHEJ1 was set to GREEN
Added comment: More than 5 unrelated families reported, poor growth is a key feature.
Sources: Expert Review
Growth failure v0.274 MPLKIP Zornitza Stark Marked gene: MPLKIP as ready
Growth failure v0.274 MPLKIP Zornitza Stark Gene: mplkip has been classified as Green List (High Evidence).
Growth failure v0.274 MPLKIP Zornitza Stark Classified gene: MPLKIP as Green List (high evidence)
Growth failure v0.274 MPLKIP Zornitza Stark Gene: mplkip has been classified as Green List (High Evidence).
Growth failure v0.273 MPLKIP Zornitza Stark gene: MPLKIP was added
gene: MPLKIP was added to Growth failure in early childhood. Sources: Expert list
Mode of inheritance for gene: MPLKIP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MPLKIP were set to 15645389; 16977596
Phenotypes for gene: MPLKIP were set to Trichothiodystrophy 4, nonphotosensitive, MIM# 234050; MONDO:0021013
Review for gene: MPLKIP was set to GREEN
Added comment: Trichothiodystrophy is a rare autosomal recessive disorder in which patients have brittle, sulfur-deficient hair that displays a diagnostic alternating light and dark banding pattern, called 'tiger tail banding,' under polarizing microscopy. TTD patients display a wide variety of clinical features, including cutaneous, neurologic, and growth abnormalities. Common additional clinical features are ichthyosis, intellectual/developmental disabilities, decreased fertility, abnormal characteristics at birth, ocular abnormalities, short stature, and infections.

Gene previously known as c7orf11.

More than 5 unrelated families reported.
Sources: Expert list
Growth failure v0.272 GTF2H5 Zornitza Stark Marked gene: GTF2H5 as ready
Growth failure v0.272 GTF2H5 Zornitza Stark Gene: gtf2h5 has been classified as Green List (High Evidence).
Growth failure v0.272 GTF2H5 Zornitza Stark Classified gene: GTF2H5 as Green List (high evidence)
Growth failure v0.272 GTF2H5 Zornitza Stark Gene: gtf2h5 has been classified as Green List (High Evidence).
Growth failure v0.271 GTF2H5 Zornitza Stark gene: GTF2H5 was added
gene: GTF2H5 was added to Growth failure in early childhood. Sources: Expert Review
Mode of inheritance for gene: GTF2H5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GTF2H5 were set to 15220921; 30359777; 24986372
Phenotypes for gene: GTF2H5 were set to Trichothiodystrophy 3, photosensitive, MIM# 616395; MONDO:0014619
Review for gene: GTF2H5 was set to GREEN
Added comment: Trichothiodystrophy is a rare autosomal recessive disorder in which patients have brittle, sulfur-deficient hair that displays a diagnostic alternating light and dark banding pattern, called 'tiger tail banding,' under polarizing microscopy. TTD patients display a wide variety of clinical features, including cutaneous, neurologic, and growth abnormalities. Common additional clinical features are ichthyosis, intellectual/developmental disabilities, decreased fertility, abnormal characteristics at birth, ocular abnormalities, short stature, and infections.

Established gene-disease association, at least 5 families reported.
Sources: Expert Review
Growth failure v0.270 ERCC5 Zornitza Stark Marked gene: ERCC5 as ready
Growth failure v0.270 ERCC5 Zornitza Stark Gene: ercc5 has been classified as Green List (High Evidence).
Growth failure v0.270 ERCC5 Zornitza Stark Classified gene: ERCC5 as Green List (high evidence)
Growth failure v0.270 ERCC5 Zornitza Stark Gene: ercc5 has been classified as Green List (High Evidence).
Growth failure v0.269 ERCC5 Zornitza Stark gene: ERCC5 was added
gene: ERCC5 was added to Growth failure in early childhood. Sources: Expert Review
Mode of inheritance for gene: ERCC5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ERCC5 were set to 7951246; 9096355; 9096355; 24700531; 33766032; 33219753
Phenotypes for gene: ERCC5 were set to Cerebrooculofacioskeletal syndrome 3, MIM# 616570; MONDO:0014696; Xeroderma pigmentosum, group G, MIM# 278780; MONDO:0010216
Review for gene: ERCC5 was set to GREEN
Added comment: Well established gene-disease association, spectrum of severity. Poor growth is a feature of COFS but is also present in some individuals with xeroderma pigmentosa.
Sources: Expert Review
Growth failure v0.268 ERCC3 Zornitza Stark Marked gene: ERCC3 as ready
Growth failure v0.268 ERCC3 Zornitza Stark Gene: ercc3 has been classified as Green List (High Evidence).
Growth failure v0.268 ERCC3 Zornitza Stark Classified gene: ERCC3 as Green List (high evidence)
Growth failure v0.268 ERCC3 Zornitza Stark Gene: ercc3 has been classified as Green List (High Evidence).
Growth failure v0.267 ERCC3 Zornitza Stark gene: ERCC3 was added
gene: ERCC3 was added to Growth failure in early childhood. Sources: Expert Review
Mode of inheritance for gene: ERCC3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ERCC3 were set to 2167179; 10447254; 16947863; 9012405; 32557569; 27004399
Phenotypes for gene: ERCC3 were set to Trichothiodystrophy 2, photosensitive, MIM# 616390; Xeroderma pigmentosum, group B 61, MIM#0651
Review for gene: ERCC3 was set to GREEN
Added comment: Nucleotide excision repair disorder, variable severity, short stature associated with both disorders.
Sources: Expert Review
Growth failure v0.266 ERCC2 Zornitza Stark Marked gene: ERCC2 as ready
Growth failure v0.266 ERCC2 Zornitza Stark Gene: ercc2 has been classified as Green List (High Evidence).
Growth failure v0.266 ERCC2 Zornitza Stark Classified gene: ERCC2 as Green List (high evidence)
Growth failure v0.266 ERCC2 Zornitza Stark Gene: ercc2 has been classified as Green List (High Evidence).
Growth failure v0.265 ERCC2 Zornitza Stark gene: ERCC2 was added
gene: ERCC2 was added to Growth failure in early childhood. Sources: Expert Review
Mode of inheritance for gene: ERCC2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ERCC2 were set to 7849702; 9758621; 11443545; 33733458
Phenotypes for gene: ERCC2 were set to Cerebrooculofacioskeletal syndrome 2, MIM# 610756; Trichothiodystrophy 1, photosensitive, MIM# 601675
Review for gene: ERCC2 was set to GREEN
Added comment: Bi-allelic inactivation of XPD protein, a nucleotide excision repair (NER) signaling pathway component encoded by ERCC2 gene, has been associated with several defective DNA repair phenotypes, of which photosensitive trichothiodystrophy and cerebro-oculo-facio-skeletal syndrome have short stature as a feature.
Sources: Expert Review
Growth failure v0.264 DNMT3B Zornitza Stark Marked gene: DNMT3B as ready
Growth failure v0.264 DNMT3B Zornitza Stark Gene: dnmt3b has been classified as Green List (High Evidence).
Growth failure v0.264 DNMT3B Zornitza Stark Classified gene: DNMT3B as Green List (high evidence)
Growth failure v0.264 DNMT3B Zornitza Stark Gene: dnmt3b has been classified as Green List (High Evidence).
Growth failure v0.263 DNMT3B Zornitza Stark gene: DNMT3B was added
gene: DNMT3B was added to Growth failure in early childhood. Sources: Expert Review
Mode of inheritance for gene: DNMT3B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DNMT3B were set to 10647011; 23486536
Phenotypes for gene: DNMT3B were set to Immunodeficiency-centromeric instability-facial anomalies syndrome 1, MIM# 242860
Review for gene: DNMT3B was set to GREEN
Added comment: Immunodeficiency, centromeric instability, and facial dysmorphism (ICF) syndrome is a rare autosomal recessive disease characterized by facial dysmorphism, immunoglobulin deficiency, and branching of chromosomes 1, 9, and 16 after phytohemagglutinin (PHA) stimulation of lymphocytes.

More than 20 unrelated families reported.

Short stature is a feature.
Sources: Expert Review
Growth failure v0.262 DDX11 Zornitza Stark Marked gene: DDX11 as ready
Growth failure v0.262 DDX11 Zornitza Stark Gene: ddx11 has been classified as Green List (High Evidence).
Growth failure v0.262 DDX11 Zornitza Stark Classified gene: DDX11 as Green List (high evidence)
Growth failure v0.262 DDX11 Zornitza Stark Gene: ddx11 has been classified as Green List (High Evidence).
Growth failure v0.261 DDX11 Zornitza Stark gene: DDX11 was added
gene: DDX11 was added to Growth failure in early childhood. Sources: Expert Review
Mode of inheritance for gene: DDX11 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DDX11 were set to 20137776; 23033317; 30216658
Phenotypes for gene: DDX11 were set to Warsaw breakage syndrome, MIM# 613398; MONDO:0013252
Review for gene: DDX11 was set to GREEN
Added comment: PMID 30216658 reviews 12 individuals reported to date: severe microcephaly with prenatal onset was identified in all patients, and severe pre- and postnatal growth restriction was observed in 11 of 11 patients. All 12 patients had sensorineural hearing loss, with 10 of 10 having cochlear hypoplasia or functional abnormalities; 1 patient had a posterior labyrinthine anomaly. In all 4 patients who had brain imaging, abnormalities were identified. Some patients had other structural anomalies, including cardiac defects (5/12), recurrent infections (4/9), and skin pigmentation changes (6/12). Craniofacial features included a depressed nasal bridge with a broad nasal tip and overhanging columella. Elevated induced chromosome breakage was observed in 6 of 8 reported patients. Cohesin defects (premature chromatid separation and premature centromere division) were consistent in most metaphases among the patients examined.
Sources: Expert Review
Growth failure v0.260 BRCA1 Zornitza Stark Marked gene: BRCA1 as ready
Growth failure v0.260 BRCA1 Zornitza Stark Gene: brca1 has been classified as Green List (High Evidence).
Growth failure v0.260 BRCA1 Zornitza Stark Classified gene: BRCA1 as Green List (high evidence)
Growth failure v0.260 BRCA1 Zornitza Stark Gene: brca1 has been classified as Green List (High Evidence).
Growth failure v0.259 BRCA1 Zornitza Stark gene: BRCA1 was added
gene: BRCA1 was added to Growth failure in early childhood. Sources: Expert list
Mode of inheritance for gene: BRCA1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BRCA1 were set to 23269703; 29133208; 25472942; 29712865
Phenotypes for gene: BRCA1 were set to Fanconi anaemia, complementation group S, MIM# 617883
Review for gene: BRCA1 was set to GREEN
Added comment: At least 5 unrelated families with bi-allelic variants reported and FA phenotype. Short stature is a feature.
Sources: Expert list
Growth failure v0.258 ATM Zornitza Stark Marked gene: ATM as ready
Growth failure v0.258 ATM Zornitza Stark Gene: atm has been classified as Green List (High Evidence).
Growth failure v0.258 ATM Zornitza Stark Classified gene: ATM as Green List (high evidence)
Growth failure v0.258 ATM Zornitza Stark Gene: atm has been classified as Green List (High Evidence).
Growth failure v0.257 ATM Zornitza Stark gene: ATM was added
gene: ATM was added to Growth failure in early childhood. Sources: Expert Review
Mode of inheritance for gene: ATM was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ATM were set to 30137827
Phenotypes for gene: ATM were set to Ataxia-telangiectasia, MIM# 208900
Review for gene: ATM was set to GREEN
Added comment: Well established gene-disease association.

Ataxia-telangiectasia (AT) is a chromosome breakage disorder characterized by cerebellar ataxia, telangiectases, immune defects, and a predisposition to malignancy.

Short stature is a feature.
Sources: Expert Review
Growth failure v0.256 TRAIP Zornitza Stark Marked gene: TRAIP as ready
Growth failure v0.256 TRAIP Zornitza Stark Gene: traip has been classified as Green List (High Evidence).
Growth failure v0.256 TRAIP Zornitza Stark Classified gene: TRAIP as Green List (high evidence)
Growth failure v0.256 TRAIP Zornitza Stark Gene: traip has been classified as Green List (High Evidence).
Growth failure v0.255 TRAIP Zornitza Stark gene: TRAIP was added
gene: TRAIP was added to Growth failure in early childhood. Sources: Expert Review
Mode of inheritance for gene: TRAIP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TRAIP were set to 26595769
Phenotypes for gene: TRAIP were set to Seckel syndrome 9, MIM# 616777
Review for gene: TRAIP was set to GREEN
Added comment: Three families reported, though two distantly related (founder); functional data.
Sources: Expert Review
Growth failure v0.254 RNU4ATAC Zornitza Stark Marked gene: RNU4ATAC as ready
Growth failure v0.254 RNU4ATAC Zornitza Stark Gene: rnu4atac has been classified as Green List (High Evidence).
Growth failure v0.254 RNU4ATAC Zornitza Stark Phenotypes for gene: RNU4ATAC were changed from MOPD I to Microcephalic osteodysplastic primordial dwarfism, type I (MIM# 210710); Roifman syndrome (MIM# 616651); Lowry-Wood syndrome, MIM# 226960
Growth failure v0.253 RNU4ATAC Zornitza Stark Publications for gene: RNU4ATAC were set to 21474760
Growth failure v0.252 RNU4ATAC Zornitza Stark Classified gene: RNU4ATAC as Green List (high evidence)
Growth failure v0.252 RNU4ATAC Zornitza Stark Gene: rnu4atac has been classified as Green List (High Evidence).
Growth failure v0.251 RNU4ATAC Zornitza Stark reviewed gene: RNU4ATAC: Rating: GREEN; Mode of pathogenicity: None; Publications: 23794361, 26522830, 30455926, 29265708, 12605445; Phenotypes: Microcephalic osteodysplastic primordial dwarfism, type I (MIM# 210710), Roifman syndrome (MIM# 616651), Lowry-Wood syndrome, MIM# 226960; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Growth failure v0.251 RBBP8 Zornitza Stark Marked gene: RBBP8 as ready
Growth failure v0.251 RBBP8 Zornitza Stark Gene: rbbp8 has been classified as Amber List (Moderate Evidence).
Growth failure v0.251 RBBP8 Zornitza Stark Phenotypes for gene: RBBP8 were changed from seckel syndrome but with proportionate head/height impairment, cafe au lair macules to Seckel syndrome 2, MIM# 606744
Growth failure v0.250 RBBP8 Zornitza Stark Publications for gene: RBBP8 were set to 24389050, 21998596
Growth failure v0.249 RBBP8 Zornitza Stark Classified gene: RBBP8 as Amber List (moderate evidence)
Growth failure v0.249 RBBP8 Zornitza Stark Gene: rbbp8 has been classified as Amber List (Moderate Evidence).
Growth failure v0.248 RBBP8 Zornitza Stark reviewed gene: RBBP8: Rating: AMBER; Mode of pathogenicity: None; Publications: 21998596, 24389050; Phenotypes: Seckel syndrome 2, MIM# 606744; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Growth failure v0.248 POLE Zornitza Stark Marked gene: POLE as ready
Growth failure v0.248 POLE Zornitza Stark Gene: pole has been classified as Green List (High Evidence).
Growth failure v0.248 POLE Zornitza Stark Classified gene: POLE as Green List (high evidence)
Growth failure v0.248 POLE Zornitza Stark Gene: pole has been classified as Green List (High Evidence).
Growth failure v0.247 POLE Zornitza Stark Tag deep intronic tag was added to gene: POLE.
Growth failure v0.247 POLE Zornitza Stark gene: POLE was added
gene: POLE was added to Growth failure in early childhood. Sources: Expert Review
Mode of inheritance for gene: POLE was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: POLE were set to 30503519; 23230001; 25948378
Phenotypes for gene: POLE were set to FILS syndrome, MIM# 615139; IMAGE-I syndrome, MIM# 618336
Review for gene: POLE was set to GREEN
Added comment: Both the FILS and IMAGE-I phenotypes have short stature as a feature, although it is more severe in IMAGE-I. Note recurrent intronic variant, c.1686+32C-G (intron 15) in IMAGE-I, found in combination with multiple other variants.
Sources: Expert Review
Growth failure v0.246 PCNT Zornitza Stark Marked gene: PCNT as ready
Growth failure v0.246 PCNT Zornitza Stark Gene: pcnt has been classified as Green List (High Evidence).
Growth failure v0.246 PCNT Zornitza Stark Phenotypes for gene: PCNT were changed from Seckel syndrome, MOPD type II - growth restrction, microcephaly, prominent nose, micrognathia, squeaky voice, insulin resistance, 210720; MOPDII to Microcephalic osteodysplastic primordial dwarfism, type II, MIM# 210720; MONDO:0008872
Growth failure v0.245 PCNT Zornitza Stark Publications for gene: PCNT were set to 18157127; 18174396
Growth failure v0.244 PCNT Zornitza Stark Classified gene: PCNT as Green List (high evidence)
Growth failure v0.244 PCNT Zornitza Stark Gene: pcnt has been classified as Green List (High Evidence).
Growth failure v0.243 PCNT Zornitza Stark reviewed gene: PCNT: Rating: GREEN; Mode of pathogenicity: None; Publications: 18174396, 12210304, 30922925, 33460028, 32557621, 32267100; Phenotypes: Microcephalic osteodysplastic primordial dwarfism, type II, MIM# 210720, MONDO:0008872; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Growth failure v0.243 LARP7 Zornitza Stark Marked gene: LARP7 as ready
Growth failure v0.243 LARP7 Zornitza Stark Gene: larp7 has been classified as Green List (High Evidence).
Growth failure v0.243 LARP7 Zornitza Stark Classified gene: LARP7 as Green List (high evidence)
Growth failure v0.243 LARP7 Zornitza Stark Gene: larp7 has been classified as Green List (High Evidence).
Growth failure v0.242 LARP7 Zornitza Stark gene: LARP7 was added
gene: LARP7 was added to Growth failure in early childhood. Sources: Expert Review
Mode of inheritance for gene: LARP7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LARP7 were set to 22865833; 21937992; 30006060; 33569879
Phenotypes for gene: LARP7 were set to Alazami syndrome, MIM# 615071; Microcephalic primordial dwarfism, Alazami type MONDO:0014031
Review for gene: LARP7 was set to GREEN
Added comment: Alazami syndrome is an autosomal recessive disorder characterized by severe growth restriction present at birth, severely impaired intellectual development, and distinctive facial features. Five unrelated families reported.
Sources: Expert Review
Growth failure v0.241 FAM111A Zornitza Stark Marked gene: FAM111A as ready
Growth failure v0.241 FAM111A Zornitza Stark Gene: fam111a has been classified as Green List (High Evidence).
Growth failure v0.241 FAM111A Zornitza Stark Classified gene: FAM111A as Green List (high evidence)
Growth failure v0.241 FAM111A Zornitza Stark Gene: fam111a has been classified as Green List (High Evidence).
Growth failure v0.240 FAM111A Zornitza Stark gene: FAM111A was added
gene: FAM111A was added to Growth failure in early childhood. Sources: Expert Review
Mode of inheritance for gene: FAM111A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FAM111A were set to 32996714; 23684011
Phenotypes for gene: FAM111A were set to Kenny-Caffey syndrome, type 2, MIM@ 127000
Review for gene: FAM111A was set to GREEN
Added comment: Kenny-Caffey syndrome is characterized by severe proportionate short stature, cortical thickening and medullary stenosis of the tubular bones, delayed closure of the anterior fontanel, eye abnormalities including microphthalmia/nanophthalmos, and transient hypocalcemia.

Note monoallelic variants in this gene are also associated with gracile bone dysplasia, but this is generally perinatal lethal.
Sources: Expert Review
Growth failure v0.239 DNA2 Zornitza Stark Marked gene: DNA2 as ready
Growth failure v0.239 DNA2 Zornitza Stark Gene: dna2 has been classified as Green List (High Evidence).
Growth failure v0.239 DNA2 Zornitza Stark Phenotypes for gene: DNA2 were changed from Seckel syndrome 8, OMIM:615807 to Seckel syndrome 8, MIM:615807
Growth failure v0.238 DNA2 Zornitza Stark Classified gene: DNA2 as Green List (high evidence)
Growth failure v0.238 DNA2 Zornitza Stark Gene: dna2 has been classified as Green List (High Evidence).
Growth failure v0.237 DNA2 Zornitza Stark reviewed gene: DNA2: Rating: GREEN; Mode of pathogenicity: None; Publications: 24389050, 31045292; Phenotypes: Seckel syndrome 8, MIM#615807; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Growth failure v0.237 TRPS1 Zornitza Stark Marked gene: TRPS1 as ready
Growth failure v0.237 TRPS1 Zornitza Stark Gene: trps1 has been classified as Green List (High Evidence).
Growth failure v0.237 TRPS1 Zornitza Stark Publications for gene: TRPS1 were set to PubMed: 11112658, 10615131
Growth failure v0.236 PUF60 Zornitza Stark Marked gene: PUF60 as ready
Growth failure v0.236 PUF60 Zornitza Stark Gene: puf60 has been classified as Green List (High Evidence).
Growth failure v0.236 PUF60 Zornitza Stark Publications for gene: PUF60 were set to PubMed: 19464398, 24140112, 28327570, 27804958
Growth failure v0.235 FGD1 Zornitza Stark Marked gene: FGD1 as ready
Growth failure v0.235 FGD1 Zornitza Stark Gene: fgd1 has been classified as Green List (High Evidence).
Growth failure v0.235 FGD1 Zornitza Stark Phenotypes for gene: FGD1 were changed from Aarskog to Aarskog-Scott syndrome, MIM # 305400
Growth failure v0.234 FGD1 Zornitza Stark Publications for gene: FGD1 were set to
Growth failure v0.233 RAD21 Zornitza Stark Marked gene: RAD21 as ready
Growth failure v0.233 RAD21 Zornitza Stark Gene: rad21 has been classified as Green List (High Evidence).
Growth failure v0.233 RAD21 Zornitza Stark Phenotypes for gene: RAD21 were changed from Cornelia De Lange to Cornelia de Lange syndrome 4, MIM # 614701
Growth failure v0.232 RAD21 Zornitza Stark Publications for gene: RAD21 were set to
Growth failure v0.231 BRD4 Zornitza Stark Marked gene: BRD4 as ready
Growth failure v0.231 BRD4 Zornitza Stark Gene: brd4 has been classified as Green List (High Evidence).
Growth failure v0.231 BRD4 Zornitza Stark Publications for gene: BRD4 were set to PMID: 29379197, 30302754, 11997514, 34035299
Growth failure v0.230 TRPS1 Chirag Patel Classified gene: TRPS1 as Green List (high evidence)
Growth failure v0.230 TRPS1 Chirag Patel Gene: trps1 has been classified as Green List (High Evidence).
Growth failure v0.229 TRPS1 Chirag Patel gene: TRPS1 was added
gene: TRPS1 was added to Growth failure in early childhood. Sources: Literature
Mode of inheritance for gene: TRPS1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TRPS1 were set to PubMed: 11112658, 10615131
Phenotypes for gene: TRPS1 were set to Trichorhinophalangeal syndrome, type I, OMIM # 190350; Trichorhinophalangeal syndrome, type III, OMIM # 190351
Review for gene: TRPS1 was set to GREEN
Added comment: Trichorhinophalangeal syndrome (TRPS) is characterised by sparse, slowly growing scalp hair, laterally sparse eyebrows, bulbous tip of the nose, protruding ears, long flat philtrum, thin upper vermillion border, cone-shaped epiphyses (middle phalanges), and hip malformations (coxa plana, coxa magna, or coxa vara, degenerative arthrosis). TRPS3 differs from TRPS1 by the presence of severe brachydactyly, due to short metacarpals, and severe short stature.

Momeni et al. (2000) identified 6 different nonsense mutations in the TRPS1 gene in 10 unrelated patients. Ludecke et al. (2001) found 35 different mutations in TRPS1 in 44 unrelated patients with TRPS I or TRPS III. The detection rate (86%) indicated that TRPS1 is the major locus for both type I and type III TRPS. They found no mutation in the parents of sporadic patients or in apparently healthy relatives of familial patients, indicating complete penetrance of TRPS1 mutations.
Sources: Literature
Growth failure v0.228 PUF60 Chirag Patel Classified gene: PUF60 as Green List (high evidence)
Growth failure v0.228 PUF60 Chirag Patel Gene: puf60 has been classified as Green List (High Evidence).
Growth failure v0.227 PUF60 Chirag Patel gene: PUF60 was added
gene: PUF60 was added to Growth failure in early childhood. Sources: Literature
Mode of inheritance for gene: PUF60 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PUF60 were set to PubMed: 19464398, 24140112, 28327570, 27804958
Phenotypes for gene: PUF60 were set to Verheij syndrome, OMIM # 615583
Review for gene: PUF60 was set to GREEN
Added comment: Verheij syndrome is characterised by growth retardation, delayed psychomotor development, dysmorphic facial features, skeletal/vertebral abnormalities, coloboma, renal defects, and cardiac defects. Over 25 patients reported in literature with deletions and SNVs involving PUF60.
Sources: Literature
Growth failure v0.226 FGD1 Chirag Patel Classified gene: FGD1 as Green List (high evidence)
Growth failure v0.226 FGD1 Chirag Patel Gene: fgd1 has been classified as Green List (High Evidence).
Growth failure v0.225 FGD1 Chirag Patel reviewed gene: FGD1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 7954831, 20082460; Phenotypes: Aarskog-Scott syndrome, OMIM # 305400; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Growth failure v0.225 RAD21 Chirag Patel Classified gene: RAD21 as Green List (high evidence)
Growth failure v0.225 RAD21 Chirag Patel Gene: rad21 has been classified as Green List (High Evidence).
Growth failure v0.224 RAD21 Chirag Patel reviewed gene: RAD21: Rating: GREEN; Mode of pathogenicity: None; Publications: PubMed: 22633399, 32193685, 27882533, 30716475, 30125677, 24378232; Phenotypes: Cornelia de Lange syndrome 4, OMIM # 614701; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Growth failure v0.224 BRD4 Chirag Patel Classified gene: BRD4 as Green List (high evidence)
Growth failure v0.224 BRD4 Chirag Patel Gene: brd4 has been classified as Green List (High Evidence).
Growth failure v0.223 BRD4 Chirag Patel gene: BRD4 was added
gene: BRD4 was added to Growth failure in early childhood. Sources: Literature
Mode of inheritance for gene: BRD4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: BRD4 were set to PMID: 29379197, 30302754, 11997514, 34035299
Phenotypes for gene: BRD4 were set to Cornelia de Lange syndrome (no OMIM# yet)
Review for gene: BRD4 was set to GREEN
Added comment: Cornelia de Lange syndrome is a clinically heterogeneous developmental disorder characterized by malformations affecting multiple systems. Affected individuals have dysmorphic facial features, cleft palate, distal limb defects, growth retardation, and developmental delay. About 1% of patients have mutations in the BRD4 gene.

Olley et al. (2018) report 4 patients with CdLS phenotype with 4 different variants (1 deletion incl BRD4, 1 missense, and 2 frameshift). Alesi et al. (2019) reported a patient with 19p13.12p13.11 deletion including BRD4 with CdLS phenotype.

Olley et al (2021) provided further functional evidence for the previous missense variant, showing it reduces BRD4-occupancy at enhancers it does not affect transcription of the pluripotency network in mouse embryonic stem cells. Rather, it delays the cell cycle, increases DNA damage signalling, and perturbs regulation of DNA repair in mutant cells.

Houzelstein et al. (2002) showed that mice with heterozygous LOF mutations in Brd4 have marked early postnatal mortality, severe prenatal onset growth failure, abnormalities of the craniofacial skeleton and reduced body fat19; all features common in CdLS.
Sources: Literature
Growth failure v0.222 ZNF699 Zornitza Stark Marked gene: ZNF699 as ready
Growth failure v0.222 ZNF699 Zornitza Stark Gene: znf699 has been classified as Green List (High Evidence).
Growth failure v0.222 ZNF699 Zornitza Stark Classified gene: ZNF699 as Green List (high evidence)
Growth failure v0.222 ZNF699 Zornitza Stark Gene: znf699 has been classified as Green List (High Evidence).
Growth failure v0.221 ZNF699 Zornitza Stark gene: ZNF699 was added
gene: ZNF699 was added to Growth failure in early childhood. Sources: Literature
Mode of inheritance for gene: ZNF699 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ZNF699 were set to 33875846
Phenotypes for gene: ZNF699 were set to DEGCAGS syndrome, MIM# 619488
Review for gene: ZNF699 was set to GREEN
Added comment: DEGCAGS syndrome is a neurodevelopmental disorder characterized by global developmental delay, coarse and dysmorphic facial features, and poor growth and feeding apparent from infancy. Affected individuals have variable systemic manifestations often with significant structural defects of the cardiovascular, genitourinary, gastrointestinal, and/or skeletal systems. Additional features may include sensorineural hearing loss, hypotonia, anaemia or pancytopaenia, and immunodeficiency with recurrent infections.

12 unrelated families reported, 5 different homozygous frameshift variants.
Sources: Literature
Growth failure v0.220 NIPBL Zornitza Stark Marked gene: NIPBL as ready
Growth failure v0.220 NIPBL Zornitza Stark Gene: nipbl has been classified as Green List (High Evidence).
Growth failure v0.220 NIPBL Zornitza Stark Phenotypes for gene: NIPBL were changed from Cornelia De Lange to Cornelia de Lange syndrome 1, MIM # 122470
Growth failure v0.219 NIPBL Zornitza Stark Publications for gene: NIPBL were set to
Growth failure v0.218 SMC1A Zornitza Stark Marked gene: SMC1A as ready
Growth failure v0.218 SMC1A Zornitza Stark Gene: smc1a has been classified as Green List (High Evidence).
Growth failure v0.218 SMC1A Zornitza Stark Phenotypes for gene: SMC1A were changed from Developmental and epileptic encephalopathy, 85, with or without midline brain defects, MONDO:0026771; Cornelia de Lange syndrome 2, MONDO:0010370; Cornelia de Lange syndrome 2, OMIM:300590; Developmental and epileptic encephalopathy 85, with or without midline brain defects, OMIM:301044 to Cornelia de Lange syndrome 2, OMIM # 300590, MONDO:0010370
Growth failure v0.217 SMC1A Zornitza Stark Publications for gene: SMC1A were set to
Growth failure v0.216 NIPBL Chirag Patel Classified gene: NIPBL as Green List (high evidence)
Growth failure v0.216 NIPBL Chirag Patel Gene: nipbl has been classified as Green List (High Evidence).
Growth failure v0.215 NIPBL Chirag Patel reviewed gene: NIPBL: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 16604071, 20358602, 16236812, 17661813; Phenotypes: Cornelia de Lange syndrome 1, OMIM # 122470; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Growth failure v0.215 SMC1A Chirag Patel Classified gene: SMC1A as Green List (high evidence)
Growth failure v0.215 SMC1A Chirag Patel Gene: smc1a has been classified as Green List (High Evidence).
Growth failure v0.214 SMC1A Chirag Patel reviewed gene: SMC1A: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 16604071, 20358602, 19842212, 24124034; Phenotypes: Cornelia de Lange syndrome 2, OMIM # 300590; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Growth failure v0.214 PAPPA2 Zornitza Stark Marked gene: PAPPA2 as ready
Growth failure v0.214 PAPPA2 Zornitza Stark Gene: pappa2 has been classified as Green List (High Evidence).
Growth failure v0.214 PAPPA2 Zornitza Stark Phenotypes for gene: PAPPA2 were changed from Proportionate Short Stature, High Circulating IGF-I, IGFBP-3, and ALS, Mild Microcephaly, thin Long Bones and Decreased Bone Mineral Density to Short stature, Dauber-Argente type, MIM#619489
Growth failure v0.213 PAPPA2 Zornitza Stark Publications for gene: PAPPA2 were set to 26902202
Growth failure v0.212 PAPPA2 Zornitza Stark Classified gene: PAPPA2 as Green List (high evidence)
Growth failure v0.212 PAPPA2 Zornitza Stark Gene: pappa2 has been classified as Green List (High Evidence).
Growth failure v0.211 PAPPA2 Zornitza Stark reviewed gene: PAPPA2: Rating: GREEN; Mode of pathogenicity: None; Publications: 26902202, 34272725, 32739295; Phenotypes: Short stature, Dauber-Argente type, MIM#619489; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Growth failure v0.211 CRIPT Zornitza Stark Marked gene: CRIPT as ready
Growth failure v0.211 CRIPT Zornitza Stark Gene: cript has been classified as Amber List (Moderate Evidence).
Growth failure v0.211 CRIPT Zornitza Stark Phenotypes for gene: CRIPT were changed from frontal bossing, high forehead, sparse hair and eyebrows, telecanthus, mild proptosis (staring look), upturned nostrils, and hypoplastic terminal phalanges with brachydactyly to Short stature with microcephaly and distinctive facies (MIM#615789)
Growth failure v0.210 CRIPT Zornitza Stark Publications for gene: CRIPT were set to PMC3912419
Growth failure v0.209 CRIPT Zornitza Stark Classified gene: CRIPT as Amber List (moderate evidence)
Growth failure v0.209 CRIPT Zornitza Stark Gene: cript has been classified as Amber List (Moderate Evidence).
Growth failure v0.208 CRIPT Zornitza Stark reviewed gene: CRIPT: Rating: AMBER; Mode of pathogenicity: None; Publications: 24389050, 27250922; Phenotypes: Short stature with microcephaly and distinctive facies (MIM#615789); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Growth failure v0.208 CEP152 Zornitza Stark Marked gene: CEP152 as ready
Growth failure v0.208 CEP152 Zornitza Stark Gene: cep152 has been classified as Green List (High Evidence).
Growth failure v0.208 CEP152 Zornitza Stark Classified gene: CEP152 as Green List (high evidence)
Growth failure v0.208 CEP152 Zornitza Stark Gene: cep152 has been classified as Green List (High Evidence).
Growth failure v0.207 CEP152 Zornitza Stark gene: CEP152 was added
gene: CEP152 was added to Growth failure in early childhood. Sources: Expert Review
Mode of inheritance for gene: CEP152 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CEP152 were set to 21131973
Phenotypes for gene: CEP152 were set to Seckel syndrome 5, MIM# 613823
Review for gene: CEP152 was set to GREEN
Added comment: At least three unrelated families reported. Note bi-allelic variants in this gene also cause isolated microcephaly.
Sources: Expert Review
Growth failure v0.206 ATR Zornitza Stark Marked gene: ATR as ready
Growth failure v0.206 ATR Zornitza Stark Gene: atr has been classified as Green List (High Evidence).
Growth failure v0.206 ATR Zornitza Stark Classified gene: ATR as Green List (high evidence)
Growth failure v0.206 ATR Zornitza Stark Gene: atr has been classified as Green List (High Evidence).
Growth failure v0.205 ATR Zornitza Stark gene: ATR was added
gene: ATR was added to Growth failure in early childhood. Sources: Expert Review
Mode of inheritance for gene: ATR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ATR were set to 12640452; 19620979; 30199583; 23111928
Phenotypes for gene: ATR were set to Seckel syndrome 1, MIM# 210600
Review for gene: ATR was set to GREEN
Added comment: At least three unrelated families reported.
Sources: Expert Review
Growth failure v0.204 KDM6A Zornitza Stark Marked gene: KDM6A as ready
Growth failure v0.204 KDM6A Zornitza Stark Gene: kdm6a has been classified as Green List (High Evidence).
Growth failure v0.204 KDM6A Zornitza Stark Phenotypes for gene: KDM6A were changed from Kabuki to Kabuki syndrome 2, MIM# 300867
Growth failure v0.203 KDM6A Zornitza Stark Publications for gene: KDM6A were set to
Growth failure v0.202 KDM6A Zornitza Stark Classified gene: KDM6A as Green List (high evidence)
Growth failure v0.202 KDM6A Zornitza Stark Gene: kdm6a has been classified as Green List (High Evidence).
Growth failure v0.201 KDM6A Zornitza Stark reviewed gene: KDM6A: Rating: GREEN; Mode of pathogenicity: None; Publications: 22197486, 23076834, 24633898, 25972376; Phenotypes: Kabuki syndrome 2, MIM# 300867; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Growth failure v0.201 MAPK1 Zornitza Stark Marked gene: MAPK1 as ready
Growth failure v0.201 MAPK1 Zornitza Stark Gene: mapk1 has been classified as Green List (High Evidence).
Growth failure v0.201 MAPK1 Zornitza Stark Classified gene: MAPK1 as Green List (high evidence)
Growth failure v0.201 MAPK1 Zornitza Stark Gene: mapk1 has been classified as Green List (High Evidence).
Growth failure v0.200 MAPK1 Zornitza Stark gene: MAPK1 was added
gene: MAPK1 was added to Growth failure in early childhood. Sources: Expert Review
Mode of inheritance for gene: MAPK1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MAPK1 were set to 32721402
Phenotypes for gene: MAPK1 were set to Noonan syndrome 13, MIM#619087
Mode of pathogenicity for gene: MAPK1 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: MAPK1 was set to GREEN
Added comment: Motta et al (2020 - PMID: 32721402) report on 7 unrelated individuals harboring de novo missense MAPK1 pathogenic variants.

The phenotype corresponded to a neurodevelopmental disorder and - as the authors comment - consistently included DD, ID , behavioral problems. Postnatal growth delay was observed in approximately half. Hypertelorism, ptosis, downslant of palpebral fissures, wide nasal bridge as low-set/posteriorly rotated ears were among the facial features observed (each in 3 or more subjects within this cohort). Together with short/webbed neck and abnormalities of skin (lentigines / CAL spots) and growth delay these led to clinical suspicion of Noonan s. or disorder of the same pathway in some. Congenital heart defects (ASD, mitral valve insufficiency, though not cardiomyopathy) occurred in 4/7. Bleeding diathesis and lymphedema were reported only once.

MAPK1 encodes the mitogen-activated protein kinase 1 (also known as ERK2) a serine/threonine kinase of the RAS-RAF-MEK-(MAPK/)ERK pathway.

MAPK1 de novo variants were identified in all individuals following trio exome sequencing (and extensive previous genetic investigations which were non-diagnostic).

The distribution of variants, as well as in silico/vitro/vivo studies suggest a GoF effect (boosted signal through the MAPK cascade. MAPK signaling also upregulated in Noonan syndrome).
Sources: Expert Review
Growth failure v0.199 RRAS2 Zornitza Stark Marked gene: RRAS2 as ready
Growth failure v0.199 RRAS2 Zornitza Stark Gene: rras2 has been classified as Green List (High Evidence).
Growth failure v0.199 RRAS2 Zornitza Stark Classified gene: RRAS2 as Green List (high evidence)
Growth failure v0.199 RRAS2 Zornitza Stark Gene: rras2 has been classified as Green List (High Evidence).
Growth failure v0.198 RRAS2 Zornitza Stark gene: RRAS2 was added
gene: RRAS2 was added to Growth failure in early childhood. Sources: Expert Review
Mode of inheritance for gene: RRAS2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RRAS2 were set to 31130282
Phenotypes for gene: RRAS2 were set to Noonan syndrome 12, MIM #618624
Mode of pathogenicity for gene: RRAS2 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: RRAS2 was set to GREEN
Added comment: Six unrelated families reported, GoF variants.
Sources: Expert Review
Growth failure v0.197 SHOX Zornitza Stark Marked gene: SHOX as ready
Growth failure v0.197 SHOX Zornitza Stark Gene: shox has been classified as Green List (High Evidence).
Growth failure v0.197 SHOX Zornitza Stark changed review comment from: Deletions common.; to: Deletions common. Pseudoautosomal region of X chromosome.
Growth failure v0.197 SHOX Zornitza Stark edited their review of gene: SHOX: Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Growth failure v0.197 SHOX Zornitza Stark Phenotypes for gene: SHOX were changed from to Langer mesomelic dysplasia, MIM# 249700; Leri-Weill dyschondrosteosis, MIM# 127300
Growth failure v0.196 SHOX Zornitza Stark Classified gene: SHOX as Green List (high evidence)
Growth failure v0.196 SHOX Zornitza Stark Gene: shox has been classified as Green List (High Evidence).
Growth failure v0.195 SHOX Zornitza Stark Tag SV/CNV tag was added to gene: SHOX.
Growth failure v0.195 SHOX Zornitza Stark reviewed gene: SHOX: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Langer mesomelic dysplasia, MIM# 249700, Leri-Weill dyschondrosteosis, MIM# 127300; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Growth failure v0.195 CENPJ Zornitza Stark Marked gene: CENPJ as ready
Growth failure v0.195 CENPJ Zornitza Stark Gene: cenpj has been classified as Red List (Low Evidence).
Growth failure v0.195 CENPJ Zornitza Stark Phenotypes for gene: CENPJ were changed from seckel syndrome to Seckel syndrome 4, MIM# 613676
Growth failure v0.194 CENPJ Zornitza Stark Publications for gene: CENPJ were set to 20522431
Growth failure v0.193 CENPJ Zornitza Stark changed review comment from: Single family reported with Seckel phenotype and supportive mouse model. However, bi-allelic variants in this gene are typically associated with microcephaly.; to: Single family reported with Seckel phenotype and supportive mouse model. However, bi-allelic variants in this gene are typically associated with microcephaly without short stature.
Growth failure v0.193 CENPJ Zornitza Stark reviewed gene: CENPJ: Rating: RED; Mode of pathogenicity: None; Publications: 20522431, 23166506; Phenotypes: Seckel syndrome 4, MIM# 613676; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Growth failure v0.193 ORC4 Zornitza Stark Marked gene: ORC4 as ready
Growth failure v0.193 ORC4 Zornitza Stark Gene: orc4 has been classified as Green List (High Evidence).
Growth failure v0.193 ORC4 Zornitza Stark Phenotypes for gene: ORC4 were changed from Meier-Gorlin syndrome 2, 613800; micrognathia, patellar aplasia/hypoplasia, microtia, mammary hypoplasia; Meier-Gorlin to Meier-Gorlin syndrome 2, MIM# 613800
Growth failure v0.192 ORC4 Zornitza Stark Publications for gene: ORC4 were set to 21358632
Growth failure v0.191 ORC4 Zornitza Stark Classified gene: ORC4 as Green List (high evidence)
Growth failure v0.191 ORC4 Zornitza Stark Gene: orc4 has been classified as Green List (High Evidence).
Growth failure v0.190 ORC4 Zornitza Stark reviewed gene: ORC4: Rating: GREEN; Mode of pathogenicity: None; Publications: 21358632, 21358631, 23023959, 22333897; Phenotypes: Meier-Gorlin syndrome 2, MIM# 613800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Growth failure v0.190 ORC1 Zornitza Stark Marked gene: ORC1 as ready
Growth failure v0.190 ORC1 Zornitza Stark Gene: orc1 has been classified as Green List (High Evidence).
Growth failure v0.190 ORC1 Zornitza Stark Phenotypes for gene: ORC1 were changed from Meier-Gorlin syndrome 1, 224690; microtia, beaked nose, patellar aplasia/hypoplasia, mammary hypoplasia, micrognathia; Meier-Gorlin to Meier-Gorlin syndrome 1, MIM# 224690; MONDO:0009143
Growth failure v0.189 ORC1 Zornitza Stark Publications for gene: ORC1 were set to 21358632
Growth failure v0.188 ORC1 Zornitza Stark Classified gene: ORC1 as Green List (high evidence)
Growth failure v0.188 ORC1 Zornitza Stark Gene: orc1 has been classified as Green List (High Evidence).
Growth failure v0.187 ORC1 Zornitza Stark reviewed gene: ORC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21358633, 21358632, 21358631, 23023959; Phenotypes: Meier-Gorlin syndrome 1, MIM# 224690, MONDO:0009143; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Growth failure v0.187 ORC6 Zornitza Stark Marked gene: ORC6 as ready
Growth failure v0.187 ORC6 Zornitza Stark Gene: orc6 has been classified as Green List (High Evidence).
Growth failure v0.187 ORC6 Zornitza Stark Phenotypes for gene: ORC6 were changed from Meier-Gorlin; micrognathia, patellar aplasia/hypoplasia, microtia, mammary hypoplasia; Meier-Gorlin syndrome 3, 613803 to Meier-Gorlin syndrome 3, MIM# 613803
Growth failure v0.186 ORC6 Zornitza Stark Publications for gene: ORC6 were set to 21358632
Growth failure v0.185 ORC6 Zornitza Stark Classified gene: ORC6 as Green List (high evidence)
Growth failure v0.185 ORC6 Zornitza Stark Gene: orc6 has been classified as Green List (High Evidence).
Growth failure v0.184 ORC6 Zornitza Stark reviewed gene: ORC6: Rating: GREEN; Mode of pathogenicity: None; Publications: 21358632, 22333897, 25691413, 26139588; Phenotypes: Meier-Gorlin syndrome 3, MIM# 613803; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Growth failure v0.184 IGF1R Zornitza Stark Marked gene: IGF1R as ready
Growth failure v0.184 IGF1R Zornitza Stark Gene: igf1r has been classified as Green List (High Evidence).
Growth failure v0.184 IGF1R Zornitza Stark Phenotypes for gene: IGF1R were changed from 15q-Del; Insulin likegrowthfactorI,resistanceto,270450; Insulin-Like Growth Factor I Resistance to Insulin-like growth factor I, resistance to, MIM # 270450
Growth failure v0.183 IGF1R Zornitza Stark Publications for gene: IGF1R were set to
Growth failure v0.182 IGF1 Zornitza Stark Publications for gene: IGF1 were set to 8857020; 15769976; 14684690; 31539878; 28768959; 34125705; 22832530
Growth failure v0.181 IGF1 Zornitza Stark Marked gene: IGF1 as ready
Growth failure v0.181 IGF1 Zornitza Stark Gene: igf1 has been classified as Green List (High Evidence).
Growth failure v0.181 IGF1 Zornitza Stark Phenotypes for gene: IGF1 were changed from Insulin-Like Growth Factor I Deficiency; Growth retardation with deafness and mental retardation due to IGF1 deficiency, 608747; IGF1 to Growth retardation with deafness and mental retardation due to IGF1 deficiency, MIM # 608747
Growth failure v0.180 IGF1 Zornitza Stark Publications for gene: IGF1 were set to
Growth failure v0.179 IGF1 Zornitza Stark Mode of inheritance for gene: IGF1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Growth failure v0.178 IGF2 Zornitza Stark Marked gene: IGF2 as ready
Growth failure v0.178 IGF2 Zornitza Stark Gene: igf2 has been classified as Green List (High Evidence).
Growth failure v0.178 IGF2 Zornitza Stark Phenotypes for gene: IGF2 were changed from Pre- and post-natal growth failure; SRS; ?Growth restriction, severe, with distinctive facies, 616489; Silver-Russell phenptype; IUGR to Silver-Russell syndrome 3, MIM #616489
Growth failure v0.177 IGF2 Zornitza Stark Publications for gene: IGF2 were set to 26154720
Growth failure v0.176 OBSL1 Zornitza Stark Marked gene: OBSL1 as ready
Growth failure v0.176 OBSL1 Zornitza Stark Gene: obsl1 has been classified as Green List (High Evidence).
Growth failure v0.176 OBSL1 Zornitza Stark Phenotypes for gene: OBSL1 were changed from 3M; 3-M syndrome 2, 612921 to 3-M syndrome 2, MIM #612921
Growth failure v0.175 OBSL1 Zornitza Stark Publications for gene: OBSL1 were set to 21737058
Growth failure v0.174 PIK3R1 Zornitza Stark Marked gene: PIK3R1 as ready
Growth failure v0.174 PIK3R1 Zornitza Stark Gene: pik3r1 has been classified as Green List (High Evidence).
Growth failure v0.174 PIK3R1 Zornitza Stark Phenotypes for gene: PIK3R1 were changed from SHORT syndrome, 269880; SHORT to SHORT syndrome, OMIM # 269880
Growth failure v0.173 PIK3R1 Zornitza Stark Publications for gene: PIK3R1 were set to
Growth failure v0.172 PLAG1 Zornitza Stark Marked gene: PLAG1 as ready
Growth failure v0.172 PLAG1 Zornitza Stark Gene: plag1 has been classified as Green List (High Evidence).
Growth failure v0.172 PLAG1 Zornitza Stark Phenotypes for gene: PLAG1 were changed from SRS; Silver-Russell syndrome to Silver-Russell syndrome 4, MIM # 618907
Growth failure v0.171 PLAG1 Zornitza Stark Publications for gene: PLAG1 were set to 28796236
Growth failure v0.170 SRCAP Zornitza Stark Marked gene: SRCAP as ready
Growth failure v0.170 SRCAP Zornitza Stark Gene: srcap has been classified as Green List (High Evidence).
Growth failure v0.170 SRCAP Zornitza Stark Phenotypes for gene: SRCAP were changed from Floating-Harbor syndrome, 136140; Floating Harbor to Floating-Harbor syndrome, OMIM # 136140
Growth failure v0.169 SRCAP Zornitza Stark Publications for gene: SRCAP were set to
Growth failure v0.168 IGF1R Chirag Patel reviewed gene: IGF1R: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 14657428, 22130793, 23045302, 26252249, 17264177, 31586944; Phenotypes: Insulin-like growth factor I, resistance to, OMIM # 270450; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Growth failure v0.168 IGF1 Chirag Patel reviewed gene: IGF1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 8857020, 15769976, 14684690, 31539878, 28768959, 34125705, 22832530; Phenotypes: Growth retardation with deafness and mental retardation due to IGF1 deficiency, OMIM # 608747; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Growth failure v0.168 IGF2 Chirag Patel reviewed gene: IGF2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 26154720, 31544945; Phenotypes: Silver-Russell syndrome 3, OMIM #616489; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Growth failure v0.168 OBSL1 Chirag Patel reviewed gene: OBSL1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 19481195, 23018678, 19877176; Phenotypes: 3-M syndrome 2, OMIM #612921; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Growth failure v0.168 PIK3R1 Chirag Patel reviewed gene: PIK3R1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 23810378, 23810379, 23810382; Phenotypes: SHORT syndrome, OMIM # 269880; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Growth failure v0.168 PLAG1 Chirag Patel reviewed gene: PLAG1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 28796236, 33291420, 32546215; Phenotypes: Silver-Russell syndrome 4,OMIM # 618907; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Growth failure v0.168 SRCAP Chirag Patel reviewed gene: SRCAP: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 22265015, 22965468, 22965468; Phenotypes: Floating-Harbor syndrome, OMIM # 136140; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Growth failure v0.168 TRIM37 Chirag Patel reviewed gene: TRIM37: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 10888877, 12754710, 15108285, 14757854, 27044324; Phenotypes: Mulibrey nanism; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Growth failure v0.167 KMT2D Zornitza Stark changed review comment from: Association with Kabuki syndrome: failure to thrive in infancy and short stature are key features.

Note new association between missense variants located in a specific region spanning exons 38 and 39 and affecting highly conserved residues cause a novel multiple malformations syndrome distinct from Kabuki syndrome, through a dominant negative mechanism.
~10 unrelated families with choanal atresia, athelia or hypoplastic nipples, branchial sinus abnormalities, neck pits, lacrimal duct anomalies, hearing loss, external ear malformations, and thyroid abnormalities. None of the individuals had intellectual disability.; to: Association with Kabuki syndrome: failure to thrive in infancy and short stature are key features.

Note new association between missense variants located in a specific region spanning exons 38 and 39 and affecting highly conserved residues cause a novel multiple malformations syndrome distinct from Kabuki syndrome, through a dominant negative mechanism.
~10 unrelated families with choanal atresia, athelia or hypoplastic nipples, branchial sinus abnormalities, neck pits, lacrimal duct anomalies, hearing loss, external ear malformations, and thyroid abnormalities. None of the individuals had intellectual disability. Extreme short stature reported.
Growth failure v0.167 KMT2D Zornitza Stark Phenotypes for gene: KMT2D were changed from Kabuki syndrome 1, MIM# 147920 to Kabuki syndrome 1, MIM# 147920; KMT2D-associated neurodevelopmental syndrome
Growth failure v0.166 KMT2D Zornitza Stark Publications for gene: KMT2D were set to 21882399
Growth failure v0.165 KMT2D Zornitza Stark changed review comment from: Failure to thrive in infancy and short stature are key features.; to: Association with Kabuki syndrome: failure to thrive in infancy and short stature are key features.

Note new association between missense variants located in a specific region spanning exons 38 and 39 and affecting highly conserved residues cause a novel multiple malformations syndrome distinct from Kabuki syndrome, through a dominant negative mechanism.
~10 unrelated families with choanal atresia, athelia or hypoplastic nipples, branchial sinus abnormalities, neck pits, lacrimal duct anomalies, hearing loss, external ear malformations, and thyroid abnormalities. None of the individuals had intellectual disability.
Growth failure v0.165 KMT2D Zornitza Stark edited their review of gene: KMT2D: Changed publications: 31949313, 32083401, 21882399; Changed phenotypes: Kabuki syndrome 1, MIM# 147920, KMT2D-associated neurodevelopmental syndrome
Growth failure v0.165 KMT2D Zornitza Stark Publications for gene: KMT2D were set to
Growth failure v0.164 KMT2D Zornitza Stark edited their review of gene: KMT2D: Changed publications: 21882399
Growth failure v0.164 KMT2D Zornitza Stark Marked gene: KMT2D as ready
Growth failure v0.164 KMT2D Zornitza Stark Gene: kmt2d has been classified as Green List (High Evidence).
Growth failure v0.164 KMT2D Zornitza Stark Phenotypes for gene: KMT2D were changed from Kabuki to Kabuki syndrome 1, MIM# 147920
Growth failure v0.163 KMT2D Zornitza Stark Classified gene: KMT2D as Green List (high evidence)
Growth failure v0.163 KMT2D Zornitza Stark Gene: kmt2d has been classified as Green List (High Evidence).
Growth failure v0.162 KMT2D Zornitza Stark reviewed gene: KMT2D: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Kabuki syndrome 1, MIM# 147920; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Growth failure v0.162 CDT1 Zornitza Stark Marked gene: CDT1 as ready
Growth failure v0.162 CDT1 Zornitza Stark Gene: cdt1 has been classified as Green List (High Evidence).
Growth failure v0.162 CDT1 Zornitza Stark Phenotypes for gene: CDT1 were changed from Meier-Gorlin syndrome 4, 613804; micrognathia, microtia, patellar hypoplasia/aplasia, mammary hypoplasia; Meier-Gorlin to Meier-Gorlin syndrome 4, MIM# 613804; MONDO:0013431
Growth failure v0.161 CDT1 Zornitza Stark Publications for gene: CDT1 were set to 21358632
Growth failure v0.160 CDT1 Zornitza Stark Classified gene: CDT1 as Green List (high evidence)
Growth failure v0.160 CDT1 Zornitza Stark Gene: cdt1 has been classified as Green List (High Evidence).
Growth failure v0.159 CDT1 Zornitza Stark reviewed gene: CDT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21358632, 21358631, 33338304, 22333897; Phenotypes: Meier-Gorlin syndrome 4, MIM# 613804, MONDO:0013431; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Growth failure v0.159 CHD7 Zornitza Stark Marked gene: CHD7 as ready
Growth failure v0.159 CHD7 Zornitza Stark Gene: chd7 has been classified as Green List (High Evidence).
Growth failure v0.159 CHD7 Zornitza Stark Phenotypes for gene: CHD7 were changed from CHARGE syndrome, 214800; CHARGE syndrome - ocular coloboma, choanal atresia, cranial nerve defects, distinctive external and inner ear abnormalities, hearing loss, cardiovascular malformations, urogenital anomalies, and growth retardation to CHARGE syndrome, MIM# 214800
Growth failure v0.158 CHD7 Zornitza Stark Classified gene: CHD7 as Green List (high evidence)
Growth failure v0.158 CHD7 Zornitza Stark Gene: chd7 has been classified as Green List (High Evidence).
Growth failure v0.157 CHD7 Zornitza Stark reviewed gene: CHD7: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: CHARGE syndrome, MIM# 214800; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Growth failure v0.157 ATRIP Zornitza Stark Marked gene: ATRIP as ready
Growth failure v0.157 ATRIP Zornitza Stark Gene: atrip has been classified as Red List (Low Evidence).
Growth failure v0.157 ATRIP Zornitza Stark Phenotypes for gene: ATRIP were changed from microcephaly, micrognathia, small ear lobes, dental crowding to Seckel-like syndrome
Growth failure v0.156 ATRIP Zornitza Stark reviewed gene: ATRIP: Rating: RED; Mode of pathogenicity: None; Publications: 23144622; Phenotypes: Seckel syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Growth failure v0.156 PLK4 Zornitza Stark Marked gene: PLK4 as ready
Growth failure v0.156 PLK4 Zornitza Stark Gene: plk4 has been classified as Green List (High Evidence).
Growth failure v0.156 PLK4 Zornitza Stark Phenotypes for gene: PLK4 were changed from microcephaly and chorioretinopathy 2, MONDO:0014516; Microcephaly and chorioretinopathy, autosomal recessive, 2, OMIM:616171 to Microcephaly and chorioretinopathy 2, MONDO:0014516; Microcephaly and chorioretinopathy, autosomal recessive, 2, #MIM:616171
Growth failure v0.155 PLK4 Zornitza Stark Classified gene: PLK4 as Green List (high evidence)
Growth failure v0.155 PLK4 Zornitza Stark Gene: plk4 has been classified as Green List (High Evidence).
Growth failure v0.154 PLK4 Zornitza Stark reviewed gene: PLK4: Rating: GREEN; Mode of pathogenicity: None; Publications: 25344692, 25320347, 27650967; Phenotypes: Microcephaly and chorioretinopathy, autosomal recessive, 2, MIM# 616171; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Growth failure v0.154 Zornitza Stark Panel types changed to Rare Disease
Growth failure v0.153 RNPC3 Zornitza Stark Marked gene: RNPC3 as ready
Growth failure v0.153 RNPC3 Zornitza Stark Gene: rnpc3 has been classified as Amber List (Moderate Evidence).
Growth failure v0.153 RNPC3 Zornitza Stark Phenotypes for gene: RNPC3 were changed from ?Growth hormone deficiency, isolated, type V, 618160; isolated growth hormone deficiency to Growth hormone deficiency
Growth failure v0.152 RNPC3 Zornitza Stark reviewed gene: RNPC3: Rating: AMBER; Mode of pathogenicity: None; Publications: 29866761, 32462814; Phenotypes: Growth hormone deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Growth failure v0.152 RAP1B Zornitza Stark edited their review of gene: RAP1B: Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Growth failure v0.152 RAP1B Zornitza Stark Marked gene: RAP1B as ready
Growth failure v0.152 RAP1B Zornitza Stark Gene: rap1b has been classified as Amber List (Moderate Evidence).
Growth failure v0.152 RAP1B Zornitza Stark Phenotypes for gene: RAP1B were changed from short stature; Syndromic intellectual disability to Syndromic intellectual disability; short stature
Growth failure v0.151 RAP1B Zornitza Stark reviewed gene: RAP1B: Rating: AMBER; Mode of pathogenicity: None; Publications: 32627184, 26280580; Phenotypes: Syndromic intellectual disability, short stature; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Growth failure v0.151 CDC6 Zornitza Stark Marked gene: CDC6 as ready
Growth failure v0.151 CDC6 Zornitza Stark Gene: cdc6 has been classified as Red List (Low Evidence).
Growth failure v0.151 CDC6 Zornitza Stark Phenotypes for gene: CDC6 were changed from patellar hypoplasia/aplasia, microtia, meier-gorlin syndrome, mammary hypoplasia; ?Meier-Gorlin syndrome 5, 613805 to Meier-Gorlin syndrome 5 (MIM#613805)
Growth failure v0.150 CDC6 Zornitza Stark reviewed gene: CDC6: Rating: RED; Mode of pathogenicity: None; Publications: 21358632; Phenotypes: Meier-Gorlin syndrome 5 (MIM#613805); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Growth failure v0.149 HDAC8 Zornitza Stark Marked gene: HDAC8 as ready
Growth failure v0.149 HDAC8 Zornitza Stark Gene: hdac8 has been classified as Green List (High Evidence).
Growth failure v0.149 HDAC8 Zornitza Stark Phenotypes for gene: HDAC8 were changed from Cornelia De Lange to Cornelia de Lange syndrome 5, MIM# 300882
Growth failure v0.148 HDAC8 Zornitza Stark Publications for gene: HDAC8 were set to
Growth failure v0.147 HDAC8 Zornitza Stark Classified gene: HDAC8 as Green List (high evidence)
Growth failure v0.147 HDAC8 Zornitza Stark Gene: hdac8 has been classified as Green List (High Evidence).
Growth failure v0.146 HDAC8 Zornitza Stark reviewed gene: HDAC8: Rating: GREEN; Mode of pathogenicity: None; Publications: 30614194, 24403048; Phenotypes: Cornelia de Lange syndrome 5, MIM# 300882; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Growth failure v0.146 NLRP2 Zornitza Stark edited their review of gene: NLRP2: Changed publications: 30877238, 33090377, 29574422, 26323243, 19300480
Growth failure v0.146 NLRP2 Zornitza Stark Marked gene: NLRP2 as ready
Growth failure v0.146 NLRP2 Zornitza Stark Gene: nlrp2 has been classified as Amber List (Moderate Evidence).
Growth failure v0.146 NLRP2 Zornitza Stark Mode of inheritance for gene: NLRP2 was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal to Other
Growth failure v0.145 NLRP2 Zornitza Stark reviewed gene: NLRP2: Rating: AMBER; Mode of pathogenicity: None; Publications: 29574422; Phenotypes: IUGR; Mode of inheritance: Other
Growth failure v0.145 NHLRC2 Zornitza Stark Marked gene: NHLRC2 as ready
Growth failure v0.145 NHLRC2 Zornitza Stark Gene: nhlrc2 has been classified as Green List (High Evidence).
Growth failure v0.145 NHLRC2 Zornitza Stark Phenotypes for gene: NHLRC2 were changed from FINCA syndrome OMIM:618278 to Fibrosis, neurodegeneration, and cerebral angiomatosis (FINCA) syndrome MIM#618278
Growth failure v0.144 NHLRC2 Zornitza Stark Classified gene: NHLRC2 as Green List (high evidence)
Growth failure v0.144 NHLRC2 Zornitza Stark Gene: nhlrc2 has been classified as Green List (High Evidence).
Growth failure v0.143 NHLRC2 Zornitza Stark reviewed gene: NHLRC2: Rating: GREEN; Mode of pathogenicity: None; Publications: 29423877, 32435055; Phenotypes: Fibrosis, neurodegeneration, and cerebral angiomatosis (FINCA) syndrome MIM#618278; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Growth failure v0.143 NBAS Zornitza Stark Marked gene: NBAS as ready
Growth failure v0.143 NBAS Zornitza Stark Gene: nbas has been classified as Green List (High Evidence).
Growth failure v0.143 NBAS Zornitza Stark Marked gene: NBAS as ready
Growth failure v0.143 NBAS Zornitza Stark Gene: nbas has been classified as Green List (High Evidence).
Growth failure v0.143 NBAS Zornitza Stark Phenotypes for gene: NBAS were changed from Short stature, optic nerve atrophy, and Pelger-Huet anomaly, 614800 to Short stature, optic nerve atrophy, and Pelger-Huet anomaly, MIM# 614800
Growth failure v0.142 NBAS Zornitza Stark Publications for gene: NBAS were set to 31761904
Growth failure v0.141 NBAS Zornitza Stark changed review comment from: Founder mutation in Yakut population but also reported in other ethnicities. Short stature is a feature.

Note bi-allelic variants in this gene also cause infantile liver failure syndrome, MIM#616483.; to: Founder mutation in Yakut population but also reported in other ethnicities. Short stature is a feature.

Note bi-allelic variants in this gene also cause infantile liver failure syndrome, MIM#616483. Clinical features are directly related to the affected region of the NBAS protein: β-propeller (combined phenotype), Sec39 (infantile liver failure syndrome type 2/ILFS2), and C-terminal (short stature, optic atrophy, and Pelger-Huët anomaly/SOPH)
Growth failure v0.141 NBAS Zornitza Stark Classified gene: NBAS as Green List (high evidence)
Growth failure v0.141 NBAS Zornitza Stark Gene: nbas has been classified as Green List (High Evidence).
Growth failure v0.140 NBAS Zornitza Stark reviewed gene: NBAS: Rating: GREEN; Mode of pathogenicity: None; Publications: 20577004, 26286438; Phenotypes: Short stature, optic nerve atrophy, and Pelger-Huet anomaly, MIM# 614800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Growth failure v0.140 MTX2 Zornitza Stark Marked gene: MTX2 as ready
Growth failure v0.140 MTX2 Zornitza Stark Gene: mtx2 has been classified as Green List (High Evidence).
Growth failure v0.140 MTX2 Zornitza Stark Classified gene: MTX2 as Green List (high evidence)
Growth failure v0.140 MTX2 Zornitza Stark Gene: mtx2 has been classified as Green List (High Evidence).
Growth failure v0.139 MTX2 Zornitza Stark reviewed gene: MTX2: Rating: GREEN; Mode of pathogenicity: None; Publications: 32917887; Phenotypes: Mandibuloacral dysplasia progeroid syndrome, MIM# 619127, Mandibuloacral dysplasia, lipodystrophy, arterial calcification; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Growth failure v0.139 KDM3B Zornitza Stark Phenotypes for gene: KDM3B were changed from Intellectual disability; short stature to Diets-Jongmans syndrome, MIM# 618846; Intellectual disability; short stature; deafness
Growth failure v0.138 KDM3B Zornitza Stark edited their review of gene: KDM3B: Changed phenotypes: Diets-Jongmans syndrome, MIM# 618846, Intellectual disability, short stature, deafness
Growth failure v0.138 KDM3B Zornitza Stark Marked gene: KDM3B as ready
Growth failure v0.138 KDM3B Zornitza Stark Gene: kdm3b has been classified as Green List (High Evidence).
Growth failure v0.138 KDM3B Zornitza Stark Phenotypes for gene: KDM3B were changed from Behavioral abnormality; Seizures; Global developmental delay; Short stature; Intellectual disability to Intellectual disability; short stature
Growth failure v0.137 KDM3B Zornitza Stark Mode of inheritance for gene: KDM3B was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Growth failure v0.136 KDM3B Zornitza Stark Classified gene: KDM3B as Green List (high evidence)
Growth failure v0.136 KDM3B Zornitza Stark Gene: kdm3b has been classified as Green List (High Evidence).
Growth failure v0.135 KDM3B Zornitza Stark reviewed gene: KDM3B: Rating: GREEN; Mode of pathogenicity: None; Publications: 30929739; Phenotypes: Intellectual disability, short stature; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Growth failure v0.135 INTS1 Zornitza Stark Marked gene: INTS1 as ready
Growth failure v0.135 INTS1 Zornitza Stark Gene: ints1 has been classified as Green List (High Evidence).
Growth failure v0.135 INTS1 Zornitza Stark Classified gene: INTS1 as Green List (high evidence)
Growth failure v0.135 INTS1 Zornitza Stark Gene: ints1 has been classified as Green List (High Evidence).
Growth failure v0.134 INTS1 Zornitza Stark reviewed gene: INTS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28542170, 30622326, 31428919; Phenotypes: Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies, #MIM:618571, MONDO:0032817; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Growth failure v0.134 FOXP4 Zornitza Stark Marked gene: FOXP4 as ready
Growth failure v0.134 FOXP4 Zornitza Stark Gene: foxp4 has been classified as Green List (High Evidence).
Growth failure v0.134 FOXP4 Zornitza Stark Phenotypes for gene: FOXP4 were changed from Neurodevelopmental disorder; multiple congenital abnormalities to Neurodevelopmental disorder; multiple congenital abnormalities; short stature
Growth failure v0.133 FOXP4 Zornitza Stark Mode of inheritance for gene: FOXP4 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Growth failure v0.132 FOXP4 Zornitza Stark Classified gene: FOXP4 as Green List (high evidence)
Growth failure v0.132 FOXP4 Zornitza Stark Gene: foxp4 has been classified as Green List (High Evidence).
Growth failure v0.131 FOXP4 Zornitza Stark reviewed gene: FOXP4: Rating: GREEN; Mode of pathogenicity: None; Publications: 33110267; Phenotypes: Neurodevelopmental disorder, multiple congenital abnormalities, short stature; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Growth failure v0.131 COG4 Zornitza Stark Marked gene: COG4 as ready
Growth failure v0.131 COG4 Zornitza Stark Gene: cog4 has been classified as Green List (High Evidence).
Growth failure v0.131 COG4 Zornitza Stark Phenotypes for gene: COG4 were changed from microcephalic osteodysplastic dysplasia, Saul-Wilson type, MONDO:0019407; Saul-Wilson syndrome, OMIM:618150 to Saul-Wilson syndrome, OMIM:618150; Microcephalic osteodysplastic dysplasia, Saul-Wilson type, MONDO:0019407
Growth failure v0.130 COG4 Zornitza Stark Classified gene: COG4 as Green List (high evidence)
Growth failure v0.130 COG4 Zornitza Stark Gene: cog4 has been classified as Green List (High Evidence).
Growth failure v0.129 COG4 Zornitza Stark edited their review of gene: COG4: Changed mode of pathogenicity: Other
Growth failure v0.129 COG4 Zornitza Stark changed review comment from: 14 individuals reported with DD, skeletal changes, cataracts, and growth retardation (progeriod like). All have a recurrent de novo heterozygous missense variant (p.Gly516Arg).

Please note bi-allelic variants cause CDG.; to: 14 individuals reported with DD, skeletal changes, cataracts, and growth retardation (progeriod like). All have a recurrent de novo heterozygous missense variant (p.Gly516Arg). GoF suggested.

Please note bi-allelic variants cause CDG.
Growth failure v0.129 COG4 Zornitza Stark reviewed gene: COG4: Rating: GREEN; Mode of pathogenicity: None; Publications: 30290151; Phenotypes: Saul-Wilson syndrome, OMIM:618150, Microcephalic osteodysplastic dysplasia, Saul-Wilson type, MONDO:0019407; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Growth failure v0.129 TRIP13 Zornitza Stark Marked gene: TRIP13 as ready
Growth failure v0.129 TRIP13 Zornitza Stark Gene: trip13 has been classified as Amber List (Moderate Evidence).
Growth failure v0.129 TRIP13 Zornitza Stark Classified gene: TRIP13 as Amber List (moderate evidence)
Growth failure v0.129 TRIP13 Zornitza Stark Gene: trip13 has been classified as Amber List (Moderate Evidence).
Growth failure v0.128 TRIP13 Zornitza Stark gene: TRIP13 was added
gene: TRIP13 was added to Growth failure in early childhood. Sources: Expert Review
Mode of inheritance for gene: TRIP13 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TRIP13 were set to 28553959
Phenotypes for gene: TRIP13 were set to Mosaic variegated aneuploidy syndrome 3, MIM# 617598
Review for gene: TRIP13 was set to AMBER
Added comment: Autosomal recessive disorder resulting from errors in chromosome segregation. Most affected individuals develop early-onset Wilms tumor and show either aneuploidy or premature chromatid separation in cells. Some patients may have additional developmental features, such as microcephaly, growth retardation, or developmental delay.

6 unrelated families reported, but 5 shared the same homozygous stop variant, p.Arg354X, suggestive of founder effect.
Sources: Expert Review
Growth failure v0.127 BUB1B Zornitza Stark Marked gene: BUB1B as ready
Growth failure v0.127 BUB1B Zornitza Stark Gene: bub1b has been classified as Green List (High Evidence).
Growth failure v0.127 BUB1B Zornitza Stark Classified gene: BUB1B as Green List (high evidence)
Growth failure v0.127 BUB1B Zornitza Stark Gene: bub1b has been classified as Green List (High Evidence).
Growth failure v0.126 BUB1B Zornitza Stark gene: BUB1B was added
gene: BUB1B was added to Growth failure in early childhood. Sources: Expert Review
Mode of inheritance for gene: BUB1B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BUB1B were set to 18548531
Phenotypes for gene: BUB1B were set to Mosaic variegated aneuploidy syndrome 1, MIM#257300
Review for gene: BUB1B was set to GREEN
Added comment: Mosaic Variegated Aneuploidy Syndrome (MVA) is a rare autosomal recessive disorder characterized by mosaic aneuploidies involving multiple chromosomes and tissues. Affected individuals typically present with severe intrauterine and postnatal growth retardation, microcephaly, facial dysmorphism, developmental delay and predisposition to cancer and epilepsy.

More than 10 families reported.
Sources: Expert Review
Growth failure v0.125 CEP57 Zornitza Stark edited their review of gene: CEP57: Changed publications: 24259107, 21552266, 32861809, 30147898
Growth failure v0.125 CEP57 Zornitza Stark Marked gene: CEP57 as ready
Growth failure v0.125 CEP57 Zornitza Stark Gene: cep57 has been classified as Green List (High Evidence).
Growth failure v0.125 CEP57 Zornitza Stark Classified gene: CEP57 as Green List (high evidence)
Growth failure v0.125 CEP57 Zornitza Stark Gene: cep57 has been classified as Green List (High Evidence).
Growth failure v0.124 CEP57 Zornitza Stark Phenotypes for gene: CEP57 were changed from Mosaic variegated aneuploidy syndrome 2, 614114 to Mosaic variegated aneuploidy syndrome 2, MIM#614114
Growth failure v0.123 CEP57 Zornitza Stark Publications for gene: CEP57 were set to 24259107; 21552266
Growth failure v0.122 CEP57 Zornitza Stark Deleted their comment
Growth failure v0.122 CEP57 Zornitza Stark edited their review of gene: CEP57: Added comment: Mosaic Variegated Aneuploidy Syndrome (MVA) is a rare autosomal recessive disorder characterized by mosaic aneuploidies involving multiple chromosomes and tissues. Affected individuals typically present with severe intrauterine and postnatal growth retardation, microcephaly, facial dysmorphism, developmental delay and predisposition to cancer and epilepsy.; Changed publications: 24259107, 21552266, 32861809
Growth failure v0.122 CEP57 Zornitza Stark reviewed gene: CEP57: Rating: GREEN; Mode of pathogenicity: None; Publications: 24259107, 21552266; Phenotypes: Mosaic variegated aneuploidy syndrome 2, #MIM 614114; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Growth failure v0.122 Zornitza Stark removed gene:CCDC186 from the panel
Growth failure v0.121 ANAPC1 Zornitza Stark Marked gene: ANAPC1 as ready
Growth failure v0.121 ANAPC1 Zornitza Stark Gene: anapc1 has been classified as Green List (High Evidence).
Growth failure v0.121 ANAPC1 Zornitza Stark Tag deep intronic tag was added to gene: ANAPC1.
Growth failure v0.121 ANAPC1 Zornitza Stark Classified gene: ANAPC1 as Green List (high evidence)
Growth failure v0.121 ANAPC1 Zornitza Stark Gene: anapc1 has been classified as Green List (High Evidence).
Growth failure v0.120 ANAPC1 Zornitza Stark reviewed gene: ANAPC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31303264; Phenotypes: Rothmund-Thomson syndrome, type 1, MIM# 618625; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Growth failure v0.120 FANCM Zornitza Stark Marked gene: FANCM as ready
Growth failure v0.120 FANCM Zornitza Stark Gene: fancm has been classified as Red List (Low Evidence).
Growth failure v0.120 FANCM Zornitza Stark Phenotypes for gene: FANCM were changed from Fanconi anemia, complementation group M, 614087; Fanconi anemia; Fanconi Anemia to Fanconi anaemia
Growth failure v0.119 SMC3 Zornitza Stark Marked gene: SMC3 as ready
Growth failure v0.119 SMC3 Zornitza Stark Gene: smc3 has been classified as Green List (High Evidence).
Growth failure v0.119 SMC3 Zornitza Stark Phenotypes for gene: SMC3 were changed from Cornelia De Lange to Cornelia de Lange syndrome 3, MIM# 610759
Growth failure v0.118 SMC3 Zornitza Stark Publications for gene: SMC3 were set to
Growth failure v0.117 SMC3 Zornitza Stark Classified gene: SMC3 as Green List (high evidence)
Growth failure v0.117 SMC3 Zornitza Stark Gene: smc3 has been classified as Green List (High Evidence).
Growth failure v0.116 SMC3 Zornitza Stark reviewed gene: SMC3: Rating: GREEN; Mode of pathogenicity: None; Publications: 25125236, 25655089; Phenotypes: Cornelia de Lange syndrome 3, MIM# 610759; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Growth failure v0.116 SOX3 Zornitza Stark Marked gene: SOX3 as ready
Growth failure v0.116 SOX3 Zornitza Stark Gene: sox3 has been classified as Red List (Low Evidence).
Growth failure v0.116 SOX3 Zornitza Stark Phenotypes for gene: SOX3 were changed from Panhypopituitarism, X-linked, OMIM:312000; Mental retardation, X-linked, with isolated growth hormone deficiency, OMIM:300123; Panhypopituitarism, X-linked, MONDO:0010712; Intellectual disability, X-linked, with panhypopituitarism, MONDO:0010252 to Mental retardation, X-linked, with isolated growth hormone deficiency, MIM#300123; Panhypopituitarism, X-linked, MIM#312000
Growth failure v0.115 SOX3 Zornitza Stark Publications for gene: SOX3 were set to 15800844
Growth failure v0.114 SOX3 Zornitza Stark Mode of inheritance for gene: SOX3 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
Growth failure v0.113 SOX3 Zornitza Stark Tag SV/CNV tag was added to gene: SOX3.
Growth failure v0.113 SOX3 Zornitza Stark reviewed gene: SOX3: Rating: RED; Mode of pathogenicity: None; Publications: 29175558, 30125608, 12428212, 15800844; Phenotypes: Mental retardation, X-linked, with isolated growth hormone deficiency, MIM#300123, Panhypopituitarism, X-linked, MIM#312000; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Growth failure v0.113 SOX2 Zornitza Stark Marked gene: SOX2 as ready
Growth failure v0.113 SOX2 Zornitza Stark Gene: sox2 has been classified as Green List (High Evidence).
Growth failure v0.113 SOX2 Zornitza Stark Phenotypes for gene: SOX2 were changed from to Microphthalmia, syndromic 3, MIM# 206900
Growth failure v0.112 SOX2 Zornitza Stark Publications for gene: SOX2 were set to
Growth failure v0.111 SOX2 Zornitza Stark Classified gene: SOX2 as Green List (high evidence)
Growth failure v0.111 SOX2 Zornitza Stark Gene: sox2 has been classified as Green List (High Evidence).
Growth failure v0.110 SOX2 Zornitza Stark reviewed gene: SOX2: Rating: GREEN; Mode of pathogenicity: None; Publications: 15812812, 16543359, 16932809,; Phenotypes: Microphthalmia, syndromic 3, MIM# 206900; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Growth failure v0.110 ERCC8 Zornitza Stark edited their review of gene: ERCC8: Changed phenotypes: Cockayne syndrome, type A, MIM# 216400, MONDO:0019569
Growth failure v0.110 ERCC8 Zornitza Stark Marked gene: ERCC8 as ready
Growth failure v0.110 ERCC8 Zornitza Stark Gene: ercc8 has been classified as Green List (High Evidence).
Growth failure v0.110 ERCC8 Zornitza Stark Phenotypes for gene: ERCC8 were changed from cockayne to Cockayne syndrome, type A, MIM# 216400; MONDO:0019569
Growth failure v0.109 ERCC8 Zornitza Stark Publications for gene: ERCC8 were set to
Growth failure v0.108 ERCC8 Zornitza Stark Classified gene: ERCC8 as Green List (high evidence)
Growth failure v0.108 ERCC8 Zornitza Stark Gene: ercc8 has been classified as Green List (High Evidence).
Growth failure v0.107 ERCC6 Zornitza Stark Marked gene: ERCC6 as ready
Growth failure v0.107 ERCC6 Zornitza Stark Gene: ercc6 has been classified as Green List (High Evidence).
Growth failure v0.107 ERCC6 Zornitza Stark Phenotypes for gene: ERCC6 were changed from Cockayne syndrome, type B, 133540 to Cerebrooculofacioskeletal syndrome 1, MIM# 214150; MONDO:0008955; Cockayne syndrome, type B, MIM# 133540; MONDO:0019570
Growth failure v0.106 ERCC6 Zornitza Stark changed review comment from: Well established gene-disease association, spectrum of severity.; to: Well established gene-disease association, spectrum of severity. Marked short stature is a feature.
Growth failure v0.106 ERCC6 Zornitza Stark edited their review of gene: ERCC6: Changed phenotypes: Cerebrooculofacioskeletal syndrome 1, MIM# 214150, MONDO:0008955, Cockayne syndrome, type B, MIM# 133540, MONDO:0019570
Growth failure v0.106 ERCC6 Zornitza Stark Classified gene: ERCC6 as Green List (high evidence)
Growth failure v0.106 ERCC6 Zornitza Stark Gene: ercc6 has been classified as Green List (High Evidence).
Growth failure v0.105 LIG4 Zornitza Stark Marked gene: LIG4 as ready
Growth failure v0.105 LIG4 Zornitza Stark Gene: lig4 has been classified as Green List (High Evidence).
Growth failure v0.105 LIG4 Zornitza Stark Phenotypes for gene: LIG4 were changed from microcephaly, growth retardation, immunodeficiency, developmental delay to LIG4 syndrome, MIM# 606593; microcephaly, growth retardation, immunodeficiency, developmental delay
Growth failure v0.104 LIG4 Zornitza Stark Publications for gene: LIG4 were set to 11779494, 16088910,
Growth failure v0.103 LIG4 Zornitza Stark Classified gene: LIG4 as Green List (high evidence)
Growth failure v0.103 LIG4 Zornitza Stark Gene: lig4 has been classified as Green List (High Evidence).
Growth failure v0.102 STAT5B Zornitza Stark Marked gene: STAT5B as ready
Growth failure v0.102 STAT5B Zornitza Stark Gene: stat5b has been classified as Green List (High Evidence).
Growth failure v0.102 STAT5B Zornitza Stark Phenotypes for gene: STAT5B were changed from to Growth hormone insensitivity with immune dysregulation 1, autosomal recessive, MIM# 245590; Growth hormone insensitivity with immune dysregulation 2, autosomal dominant, MIM# 618985
Growth failure v0.101 STAT5B Zornitza Stark Publications for gene: STAT5B were set to
Growth failure v0.100 STAT5B Zornitza Stark Classified gene: STAT5B as Green List (high evidence)
Growth failure v0.100 STAT5B Zornitza Stark Gene: stat5b has been classified as Green List (High Evidence).
Growth failure v0.99 STAT5B Zornitza Stark reviewed gene: STAT5B: Rating: GREEN; Mode of pathogenicity: None; Publications: 13679528, 15827093, 16787985, 17389811, 29844444; Phenotypes: Growth hormone insensitivity with immune dysregulation 1, autosomal recessive, MIM# 245590, Growth hormone insensitivity with immune dysregulation 2, autosomal dominant, MIM# 618985; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Growth failure v0.99 TBCE Zornitza Stark Marked gene: TBCE as ready
Growth failure v0.99 TBCE Zornitza Stark Gene: tbce has been classified as Green List (High Evidence).
Growth failure v0.99 TBCE Zornitza Stark Phenotypes for gene: TBCE were changed from to Kenny-Caffey syndrome, type 1, MIM# 244460; Hypoparathyroidism-retardation-dysmorphism syndrome, MIM# 241410, Sanjad-Sakati syndrome
Growth failure v0.98 TBCE Zornitza Stark Publications for gene: TBCE were set to
Growth failure v0.97 TBCE Zornitza Stark Classified gene: TBCE as Green List (high evidence)
Growth failure v0.97 TBCE Zornitza Stark Gene: tbce has been classified as Green List (High Evidence).
Growth failure v0.96 TBCE Zornitza Stark reviewed gene: TBCE: Rating: GREEN; Mode of pathogenicity: None; Publications: 12389028, 26029652, 33010201, 30638765; Phenotypes: Kenny-Caffey syndrome, type 1, MIM# 244460, Hypoparathyroidism-retardation-dysmorphism syndrome, MIM# 241410, Sanjad-Sakati syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Growth failure v0.96 Zornitza Stark removed gene:THRB from the panel
Growth failure v0.95 Zornitza Stark removed gene:IGFBP3 from the panel
Growth failure v0.94 Zornitza Stark removed gene:IGFBP1 from the panel
Growth failure v0.93 MRAS Zornitza Stark Marked gene: MRAS as ready
Growth failure v0.93 MRAS Zornitza Stark Gene: mras has been classified as Green List (High Evidence).
Growth failure v0.93 MRAS Zornitza Stark Mode of pathogenicity for gene: MRAS was changed from None to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Growth failure v0.92 MRAS Zornitza Stark Classified gene: MRAS as Green List (high evidence)
Growth failure v0.92 MRAS Zornitza Stark Gene: mras has been classified as Green List (High Evidence).
Growth failure v0.91 MRAS Zornitza Stark gene: MRAS was added
gene: MRAS was added to Growth failure in early childhood. Sources: Expert Review
Mode of inheritance for gene: MRAS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MRAS were set to 28289718; 31173466; 31108500; 31173466
Phenotypes for gene: MRAS were set to Noonan syndrome 11, MIM#618499
Review for gene: MRAS was set to GREEN
Added comment: At least 6 unrelated individuals reported.
Sources: Expert Review
Growth failure v0.90 BTK Zornitza Stark Publications for gene: BTK were set to 8013627; 7849697
Growth failure v0.89 BTK Zornitza Stark changed review comment from: At least 3 families reported with GH deficiency plus agammaglobulinaemia.; to: At least 4 families reported with GH deficiency plus agammaglobulinaemia.
Growth failure v0.89 BTK Zornitza Stark edited their review of gene: BTK: Changed publications: 8013627, 7849697, 9554752
Growth failure v0.89 BTK Zornitza Stark Marked gene: BTK as ready
Growth failure v0.89 BTK Zornitza Stark Gene: btk has been classified as Green List (High Evidence).
Growth failure v0.89 BTK Zornitza Stark Phenotypes for gene: BTK were changed from to Isolated growth hormone deficiency, type III, with agammaglobulinaemia, MIM# 307200
Growth failure v0.88 BTK Zornitza Stark Publications for gene: BTK were set to
Growth failure v0.87 BTK Zornitza Stark Mode of inheritance for gene: BTK was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Growth failure v0.86 BTK Zornitza Stark Classified gene: BTK as Green List (high evidence)
Growth failure v0.86 BTK Zornitza Stark Gene: btk has been classified as Green List (High Evidence).
Growth failure v0.85 BTK Zornitza Stark reviewed gene: BTK: Rating: GREEN; Mode of pathogenicity: None; Publications: 8013627, 7849697; Phenotypes: Isolated growth hormone deficiency, type III, with agammaglobulinaemia, MIM# 307200; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Growth failure v0.85 UBE2T Zornitza Stark Marked gene: UBE2T as ready
Growth failure v0.85 UBE2T Zornitza Stark Gene: ube2t has been classified as Green List (High Evidence).
Growth failure v0.85 UBE2T Zornitza Stark Phenotypes for gene: UBE2T were changed from Falcon anemia; 616435 Fanconi anemia, complementation group T; Fanconi anemia, complementation group T, 616435 to Fanconi anemia, complementation group T, MIM# 616435
Growth failure v0.84 UBE2T Zornitza Stark Publications for gene: UBE2T were set to 26046368
Growth failure v0.83 UBE2T Zornitza Stark commented on gene: UBE2T: Poor growth is an early feature of FA.
Growth failure v0.83 TOP3A Zornitza Stark Marked gene: TOP3A as ready
Growth failure v0.83 TOP3A Zornitza Stark Gene: top3a has been classified as Green List (High Evidence).
Growth failure v0.83 TOP3A Zornitza Stark Phenotypes for gene: TOP3A were changed from Microcephaly, growth restriction, and increased sister chromatid exchange 2; MGRISCE2 (Bloom-like syndrome) 618097; 618097 MGRISCE2 (Bloom-like syndrome) to Microcephaly, growth restriction, and increased sister chromatid exchange 2, MIM# 618097
Growth failure v0.82 TOP3A Zornitza Stark Publications for gene: TOP3A were set to
Growth failure v0.81 SOS2 Zornitza Stark Marked gene: SOS2 as ready
Growth failure v0.81 SOS2 Zornitza Stark Gene: sos2 has been classified as Green List (High Evidence).
Growth failure v0.81 SOS2 Zornitza Stark Phenotypes for gene: SOS2 were changed from Noonan syndrome 9 to Noonan syndrome 9, MIM# 616559
Growth failure v0.80 SOS2 Zornitza Stark Publications for gene: SOS2 were set to 25795793; 26173643
Growth failure v0.79 SOS2 Zornitza Stark Mode of pathogenicity for gene: SOS2 was changed from Other - 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
Growth failure v0.78 SOS2 Zornitza Stark Mode of inheritance for gene: SOS2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Growth failure v0.77 SOS1 Zornitza Stark Marked gene: SOS1 as ready
Growth failure v0.77 SOS1 Zornitza Stark Gene: sos1 has been classified as Green List (High Evidence).
Growth failure v0.77 SOS1 Zornitza Stark Phenotypes for gene: SOS1 were changed from Noonan syndrome; Rasopathy; Noonan syndrome 4 to Noonan syndrome 4, MIM# 610733
Growth failure v0.76 SLX4 Zornitza Stark Marked gene: SLX4 as ready
Growth failure v0.76 SLX4 Zornitza Stark Gene: slx4 has been classified as Green List (High Evidence).
Growth failure v0.76 SLX4 Zornitza Stark Phenotypes for gene: SLX4 were changed from 613951 Fanconi Anemia Fanconi anemia, complementation group P; Fanconi anemia, complementation group P, 613951; Fanconi Anemia to Fanconi anemia, complementation group P, MIM# 613951
Growth failure v0.75 SLX4 Zornitza Stark commented on gene: SLX4: Poor growth is an early feature.
Growth failure v0.75 SHOC2 Zornitza Stark Marked gene: SHOC2 as ready
Growth failure v0.75 SHOC2 Zornitza Stark Gene: shoc2 has been classified as Green List (High Evidence).
Growth failure v0.75 SHOC2 Zornitza Stark Phenotypes for gene: SHOC2 were changed from Noonan with loss of anagen hair; Noonan-like syndrome with loose anagen hair to Noonan syndrome-like with loose anagen hair 1, MIM# 607721
Growth failure v0.74 Zornitza Stark removed gene:SPRED1 from the panel
Growth failure v0.73 XRCC4 Zornitza Stark Marked gene: XRCC4 as ready
Growth failure v0.73 XRCC4 Zornitza Stark Gene: xrcc4 has been classified as Green List (High Evidence).
Growth failure v0.73 XRCC4 Zornitza Stark Phenotypes for gene: XRCC4 were changed from short stature, microcephaly, hypothyroidism, diabetes mellitus, progressive ataxia, hypergonadotrophic hypogonadism to Short stature, microcephaly, and endocrine dysfunction, MIM# 616541; MONDO:0014686
Growth failure v0.72 XRCC4 Zornitza Stark Publications for gene: XRCC4 were set to 25728776
Growth failure v0.71 XRCC4 Zornitza Stark Classified gene: XRCC4 as Green List (high evidence)
Growth failure v0.71 XRCC4 Zornitza Stark Gene: xrcc4 has been classified as Green List (High Evidence).
Growth failure v0.70 XRCC4 Zornitza Stark changed review comment from: Well established gene-disease association.; to: Well established gene-disease association. Growth failure is an early and prominent feature.
Growth failure v0.70 RIT1 Zornitza Stark Marked gene: RIT1 as ready
Growth failure v0.70 RIT1 Zornitza Stark Gene: rit1 has been classified as Green List (High Evidence).
Growth failure v0.70 RIT1 Zornitza Stark Phenotypes for gene: RIT1 were changed from Rasopathy; Noonan syndrome type 8; Noonan syndrome 8 to Noonan syndrome 8, MIM# 615355
Growth failure v0.69 RIT1 Zornitza Stark Publications for gene: RIT1 were set to 24939608; 25124994; 23791108
Growth failure v0.68 RAF1 Zornitza Stark Marked gene: RAF1 as ready
Growth failure v0.68 RAF1 Zornitza Stark Gene: raf1 has been classified as Green List (High Evidence).
Growth failure v0.68 RAF1 Zornitza Stark Phenotypes for gene: RAF1 were changed from Noonan syndrome 5; Noonan syndrome; LEOPARD syndrome 2; Rasopathy; LEOPARD syndrome to Noonan syndrome 5, MIM# 611553
Growth failure v0.67 RAF1 Zornitza Stark Publications for gene: RAF1 were set to 17603483; 17603482
Growth failure v0.66 RAF1 Zornitza Stark changed review comment from: Over 20 affected individuals reported.; to: Over 20 affected individuals reported. Short stature is a key feature.
Growth failure v0.66 PTPN11 Zornitza Stark Marked gene: PTPN11 as ready
Growth failure v0.66 PTPN11 Zornitza Stark Gene: ptpn11 has been classified as Green List (High Evidence).
Growth failure v0.66 PTPN11 Zornitza Stark Phenotypes for gene: PTPN11 were changed from Noonan syndrome; LEOPARD syndrome 1; Noonan syndrome 1; LEOPARD syndrome to LEOPARD syndrome 1, 151100 AD (for reporting use Noonan syndrome with multiple lentigines); Noonan syndrome 1, MIM#163950
Growth failure v0.65 PTPN11 Zornitza Stark Mode of pathogenicity for gene: PTPN11 was changed from Other - 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
Growth failure v0.64 ZPR1 Zornitza Stark Marked gene: ZPR1 as ready
Growth failure v0.64 ZPR1 Zornitza Stark Gene: zpr1 has been classified as Red List (Low Evidence).
Growth failure v0.64 ZPR1 Zornitza Stark Phenotypes for gene: ZPR1 were changed from ?Growth restriction, hypoplastic kidneys, alopecia, and distinctive facies, OMIM:619321 to Growth restriction, hypoplastic kidneys, alpecia, and distinctive facies, MIM# 619321
Growth failure v0.63 ZPR1 Zornitza Stark Tag founder tag was added to gene: ZPR1.
Growth failure v0.63 ZPR1 Zornitza Stark reviewed gene: ZPR1: Rating: RED; Mode of pathogenicity: None; Publications: 29851065; Phenotypes: Growth restriction, hypoplastic kidneys, alpecia, and distinctive facies, MIM# 619321; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Growth failure v0.63 PPP1CB Zornitza Stark Marked gene: PPP1CB as ready
Growth failure v0.63 PPP1CB Zornitza Stark Gene: ppp1cb has been classified as Green List (High Evidence).
Growth failure v0.63 PPP1CB Zornitza Stark Phenotypes for gene: PPP1CB were changed from Noonan syndrome-like disorder with loose anagen hair 2, 617506; Rasopathy with developmental delay, short stature and sparse slow-growing hair to Noonan syndrome-like disorder with loose anagen hair 2; OMIM # 617506
Growth failure v0.62 PPP1CB Zornitza Stark Publications for gene: PPP1CB were set to 27264673; 27681385; 28211982
Growth failure v0.61 PPP1CB Zornitza Stark Mode of inheritance for gene: PPP1CB was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Growth failure v0.60 PALB2 Zornitza Stark Marked gene: PALB2 as ready
Growth failure v0.60 PALB2 Zornitza Stark Gene: palb2 has been classified as Green List (High Evidence).
Growth failure v0.60 PALB2 Zornitza Stark Phenotypes for gene: PALB2 were changed from Fanconi anemia, complementation group N, 610832; 610832 Fanconi anemia, complementation group N to Fanconi anaemia, complementation group N, MIM# 610832
Growth failure v0.59 PALB2 Zornitza Stark changed review comment from: Established gene-disease association.; to: Established gene-disease association. Short stature is a key feature of FA.
Growth failure v0.59 NRAS Zornitza Stark Marked gene: NRAS as ready
Growth failure v0.59 NRAS Zornitza Stark Gene: nras has been classified as Green List (High Evidence).
Growth failure v0.59 NRAS Zornitza Stark Phenotypes for gene: NRAS were changed from Cardio-Facio-cutanenous syndrome; A restricted spectrum of NRAS mutations causes Noonan syndrome. (Nat Genet. 42: 27-29, 2010.); Noonan syndrome; CFC Syndrome; Noonan syndrome 6 to Noonan syndrome 6, MIM# 613224
Growth failure v0.58 NRAS Zornitza Stark Publications for gene: NRAS were set to 19966803; 19775298
Growth failure v0.57 NRAS Zornitza Stark changed review comment from: Over 20 affected individuals reported, well established gene-disease association.; to: Over 20 affected individuals reported, well established gene-disease association. Short stature is a key feature.
Growth failure v0.57 NBN Zornitza Stark Marked gene: NBN as ready
Growth failure v0.57 NBN Zornitza Stark Gene: nbn has been classified as Green List (High Evidence).
Growth failure v0.57 NBN Zornitza Stark Phenotypes for gene: NBN were changed from Nijmegen; Nijmegen breakage syndrome, 251260 to Nijmegen breakage syndrome, MIM# 251260; MONDO:0009623
Growth failure v0.56 NBN Zornitza Stark Publications for gene: NBN were set to
Growth failure v0.55 MAP2K2 Zornitza Stark Marked gene: MAP2K2 as ready
Growth failure v0.55 MAP2K2 Zornitza Stark Gene: map2k2 has been classified as Green List (High Evidence).
Growth failure v0.55 MAP2K2 Zornitza Stark Phenotypes for gene: MAP2K2 were changed from CFC syndrome; Cardiofaciocutaneous Syndrome; Cardiofaciocutaneous syndrome; Cardiofaciocutaneous syndrome 4; Cardio-Facio-Cutaneous syndrome; Cardio-Facio-Cutaneous syndrome type 4 to Cardiofaciocutaneous syndrome 4, MIM# 615280
Growth failure v0.54 MAP2K2 Zornitza Stark Publications for gene: MAP2K2 were set to 16439621; 21396583; 23379592
Growth failure v0.53 MAP2K1 Zornitza Stark Marked gene: MAP2K1 as ready
Growth failure v0.53 MAP2K1 Zornitza Stark Gene: map2k1 has been classified as Green List (High Evidence).
Growth failure v0.53 MAP2K1 Zornitza Stark Phenotypes for gene: MAP2K1 were changed from Cardiofaciocutaneous syndrome 3; CFC syndrome; ?Noonan syndrome; Cardiofaciocutaneous Syndrome; Cardiofaciocutaneous syndrome; Cardio-Facio-Cutaneous syndrome; LEOPARD syndrome to Cardiofaciocutaneous syndrome 3, MIM# 615279
Growth failure v0.52 MAP2K1 Zornitza Stark Publications for gene: MAP2K1 were set to 23321623; 16439621; 21396583; 16825433
Growth failure v0.51 LZTR1 Zornitza Stark Marked gene: LZTR1 as ready
Growth failure v0.51 LZTR1 Zornitza Stark Gene: lztr1 has been classified as Green List (High Evidence).
Growth failure v0.51 LZTR1 Zornitza Stark Phenotypes for gene: LZTR1 were changed from increased nuchal translucency; Prenatal hydrops; cardiac findings; Noonan syndrome 10 to Noonan syndrome 10; Noonan syndrome 2
Growth failure v0.50 LZTR1 Zornitza Stark Publications for gene: LZTR1 were set to 29469822; 25795793
Growth failure v0.49 KRAS Zornitza Stark Marked gene: KRAS as ready
Growth failure v0.49 KRAS Zornitza Stark Gene: kras has been classified as Green List (High Evidence).
Growth failure v0.49 KRAS Zornitza Stark Phenotypes for gene: KRAS were changed from Noonan syndrome 3; CFC syndrome; Cardiofaciocutaneous syndrome 2; Cardiofaciocutaneous Syndrome; Noonan syndrome; Rasopathy; Cardio-Facio-Cutaneous syndrome to Noonan syndrome 3, MIM# 609942; Cardiofaciocutaneous syndrome 2, MIM# 615278
Growth failure v0.48 KRAS Zornitza Stark Publications for gene: KRAS were set to 21396583
Growth failure v0.47 KRAS Zornitza Stark changed review comment from: Well established gene-disease association in individuals with Noonan syndrome, CFC and overlapping Noonan-CFC.; to: Well established gene-disease association in individuals with Noonan syndrome, CFC and overlapping Noonan-CFC. Short stature is a key feature.
Growth failure v0.47 HRAS Zornitza Stark Marked gene: HRAS as ready
Growth failure v0.47 HRAS Zornitza Stark Gene: hras has been classified as Green List (High Evidence).
Growth failure v0.47 HRAS Zornitza Stark Phenotypes for gene: HRAS were changed from Costello syndrome, 218040; Costello; Costello syndrome to Costello syndrome, MIM# 218040
Growth failure v0.46 HRAS Zornitza Stark Publications for gene: HRAS were set to 16969868; 16443854; 21396583; 16170316
Growth failure v0.45 HMGA2 Zornitza Stark Marked gene: HMGA2 as ready
Growth failure v0.45 HMGA2 Zornitza Stark Gene: hmga2 has been classified as Green List (High Evidence).
Growth failure v0.45 HMGA2 Zornitza Stark Phenotypes for gene: HMGA2 were changed from Silver-Russell syndrome 5, MONDO:0020795; Silver-Russell syndrome 5, OMIM:618908 to Silver-Russell syndrome 5, MIM# 618908; MONDO:0020795
Growth failure v0.44 HMGA2 Zornitza Stark Publications for gene: HMGA2 were set to 29655892
Growth failure v0.43 HMGA2 Zornitza Stark reviewed gene: HMGA2: Rating: GREEN; Mode of pathogenicity: None; Publications: 25809938, 29453418, 29655892, 33482836; Phenotypes: Silver-Russell syndrome 5, MIM# 618908; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Growth failure v0.43 FGFR3 Zornitza Stark Marked gene: FGFR3 as ready
Growth failure v0.43 FGFR3 Zornitza Stark Gene: fgfr3 has been classified as Green List (High Evidence).
Growth failure v0.43 FGFR3 Zornitza Stark Phenotypes for gene: FGFR3 were changed from Hypochondroplasia, 146000 to Hypochondroplasia, MIM#146000
Growth failure v0.42 FGFR3 Zornitza Stark Mode of inheritance for gene: FGFR3 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Growth failure v0.41 FGFR3 Zornitza Stark reviewed gene: FGFR3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hypochondroplasia, MIM# 146000; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Growth failure v0.41 FANCL Zornitza Stark Marked gene: FANCL as ready
Growth failure v0.41 FANCL Zornitza Stark Gene: fancl has been classified as Green List (High Evidence).
Growth failure v0.41 FANCL Zornitza Stark Phenotypes for gene: FANCL were changed from Fanconi anemia; 614083Fanconi anemia, complementation group L; Fanconi anemia, complementation group L, 614083; Fanconi Anemia to Fanconi anemia, complementation group L, MIM# 614083; MONDO:0013566
Growth failure v0.40 FANCL Zornitza Stark Publications for gene: FANCL were set to 25754594; 12724401; 19405097; 12973351; 16474160
Growth failure v0.39 FANCL Zornitza Stark changed review comment from: Established gene-disease association. Fanconi anaemia causes genomic instability and is characterised by multiple congenital anomalies including radial ray abnormalities and microcephaly, early-onset bone marrow failure, and a predisposition to cancer.; to: Established gene-disease association. Fanconi anaemia causes genomic instability and is characterised by multiple congenital anomalies including radial ray abnormalities and microcephaly, early-onset bone marrow failure, and a predisposition to cancer. Poor growth is a key feature.
Growth failure v0.39 FANCI Zornitza Stark Marked gene: FANCI as ready
Growth failure v0.39 FANCI Zornitza Stark Gene: fanci has been classified as Green List (High Evidence).
Growth failure v0.39 FANCI Zornitza Stark Phenotypes for gene: FANCI were changed from 609053 Fanconi anemia, complementation group I; Fanconi anemia; Fanconi anemia, complementation group I, 609053; Fanconi Anemia to Fanconi anemia, complementation group I, MIM# 609053; MONDO:0012186
Growth failure v0.38 FANCI Zornitza Stark changed review comment from: Established gene-disease association.

Fanconi anaemia causes genomic instability and is characterised by multiple congenital anomalies including radial ray abnormalities and microcephaly, early-onset bone marrow failure, and a predisposition to cancer.; to: Established gene-disease association.

Fanconi anaemia causes genomic instability and is characterised by multiple congenital anomalies including radial ray abnormalities and microcephaly, early-onset bone marrow failure, and a predisposition to cancer. Poor growth is a key feature.
Growth failure v0.38 FANCG Zornitza Stark Marked gene: FANCG as ready
Growth failure v0.38 FANCG Zornitza Stark Gene: fancg has been classified as Green List (High Evidence).
Growth failure v0.38 FANCG Zornitza Stark Phenotypes for gene: FANCG were changed from 614082 Fanconi anemia, complementation group G; hypogonadism and reduced fertility; Fanconi Anemia; bone marrow failure; a typical facial appearance with small head, eyes, and mouth; cutaneous abnormalities (hyper- or hypopigmentation and cafe-au-lait spots); hearing loss; Fanconi anemia; and susceptibility to cancer, predominantly acute myeloid leukemia.; Fanconi anemia, complementation group G, 614082; Fanconi anemia complementation group G; malformations of the kidneys, heart, and skeleton (absent or abnormal thumbs and radii); pre- and postnatal growth retardation to Fanconi anaemia, complementation group G, MIM# 614082; MONDO:0013565
Growth failure v0.37 FANCG Zornitza Stark Publications for gene: FANCG were set to 16493006; 9806548
Growth failure v0.36 FANCG Zornitza Stark changed review comment from: Established gene-disease association.

Fanconi anaemia causes genomic instability and is characterised by multiple congenital anomalies including radial ray abnormalities and microcephaly, early-onset bone marrow failure, and a predisposition to cancer.; to: Established gene-disease association.

Fanconi anaemia causes genomic instability and is characterised by multiple congenital anomalies including radial ray abnormalities and microcephaly, early-onset bone marrow failure, and a predisposition to cancer. Poor growth is a key feature.
Growth failure v0.36 FANCF Zornitza Stark Marked gene: FANCF as ready
Growth failure v0.36 FANCF Zornitza Stark Gene: fancf has been classified as Green List (High Evidence).
Growth failure v0.36 FANCF Zornitza Stark Phenotypes for gene: FANCF were changed from Fanconi anemia, complementation group F, 603467; Fanconi anemia; 603467 Fanconi anemia, complementation group F; Fanconi Anemia to Fanconi anaemia, complementation group F 603467; MONDO:0011325
Growth failure v0.35 FANCF Zornitza Stark Publications for gene: FANCF were set to 10615118
Growth failure v0.34 FANCF Zornitza Stark changed review comment from: Established gene-disease association.

Fanconi anaemia causes genomic instability and is characterised by multiple congenital anomalies including radial ray abnormalities and microcephaly, early-onset bone marrow failure, and a predisposition to cancer.; to: Established gene-disease association.

Fanconi anaemia causes genomic instability and is characterised by multiple congenital anomalies including radial ray abnormalities and microcephaly, early-onset bone marrow failure, and a predisposition to cancer. Poor growth is a key feature.
Growth failure v0.34 FANCE Zornitza Stark Marked gene: FANCE as ready
Growth failure v0.34 FANCE Zornitza Stark Gene: fance has been classified as Green List (High Evidence).
Growth failure v0.34 FANCE Zornitza Stark Phenotypes for gene: FANCE were changed from Fanconi anemia; Fanconi anemia, complementation group E, 600901; 600901 Fanconi anemia, complementation group E; Fanconi Anemia to Fanconi anaemia, complementation group E, MIM# 600901; MONDO:0010953
Growth failure v0.33 FANCE Zornitza Stark Publications for gene: FANCE were set to 7662964; 10205272; 9147877; 9382107
Growth failure v0.32 FANCE Zornitza Stark changed review comment from: Established gene-disease association.

Fanconi anaemia causes genomic instability and is characterised by multiple congenital anomalies including radial ray abnormalities and microcephaly, early-onset bone marrow failure, and a predisposition to cancer.; to: Established gene-disease association.

Fanconi anaemia causes genomic instability and is characterised by multiple congenital anomalies including radial ray abnormalities and microcephaly, early-onset bone marrow failure, and a predisposition to cancer. Poor growth is a key feature.
Growth failure v0.32 FANCD2 Zornitza Stark Marked gene: FANCD2 as ready
Growth failure v0.32 FANCD2 Zornitza Stark Gene: fancd2 has been classified as Green List (High Evidence).
Growth failure v0.32 FANCD2 Zornitza Stark Phenotypes for gene: FANCD2 were changed from Fanconi anemia; 227646 Fanconi anemia, complementation group D2; Fanconi anemia, complementation group D2, 227646; Fanconi Anemia to Fanconi anaemia, complementation group D2, MIM# 227646
Growth failure v0.31 FANCD2 Zornitza Stark changed review comment from: Well established gene-disease association.

Fanconi anaemia causes genomic instability and is characterised by multiple congenital anomalies including radial ray abnormalities and microcephaly, early-onset bone marrow failure, and a predisposition to cancer.; to: Well established gene-disease association.

Fanconi anaemia causes genomic instability and is characterised by multiple congenital anomalies including radial ray abnormalities and microcephaly, early-onset bone marrow failure, and a predisposition to cancer. Poor growth is a key feature.
Growth failure v0.31 FANCC Zornitza Stark Marked gene: FANCC as ready
Growth failure v0.31 FANCC Zornitza Stark Gene: fancc has been classified as Green List (High Evidence).
Growth failure v0.31 FANCC Zornitza Stark Phenotypes for gene: FANCC were changed from hypogonadism and reduced fertility; Fanconi Anemia; bone marrow failure; a typical facial appearance with small head, eyes, and mouth; Fanconi anemia, complementation group C, 227645; cutaneous abnormalities (hyper- or hypopigmentation and cafe-au-lait spots); hearing loss; Fanconi anemia; and susceptibility to cancer, predominantly acute myeloid leukemia.; 227645 Fanconi anemia, complementation group C; malformations of the kidneys, heart, and skeleton (absent or abnormal thumbs and radii); pre- and postnatal growth retardation to Fanconi anemia, complementation group C, MIM# 227645; MONDO:0009213
Growth failure v0.30 FANCC Zornitza Stark Publications for gene: FANCC were set to 16493006; 1574115
Growth failure v0.29 FANCC Zornitza Stark changed review comment from: Established gene-disease association.

Fanconi anaemia causes genomic instability and is characterised by multiple congenital anomalies including radial ray abnormalities and microcephaly, early-onset bone marrow failure, and a predisposition to cancer.; to: Established gene-disease association.

Fanconi anaemia causes genomic instability and is characterised by multiple congenital anomalies including radial ray abnormalities and microcephaly, early-onset bone marrow failure, and a predisposition to cancer. Poor growth is a key feature.
Growth failure v0.29 FANCB Zornitza Stark changed review comment from: Well established gene-disease association.

Fanconi anaemia causes genomic instability and is characterised by multiple congenital anomalies including radial ray abnormalities and microcephaly, and early-onset bone marrow failure. Poor growth is a key feature.; to: Well established gene-disease association.

Fanconi anaemia causes genomic instability and is characterised by multiple congenital anomalies including radial ray abnormalities and microcephaly, and early-onset bone marrow failure. Poor growth is a key feature.
Growth failure v0.29 FANCA Zornitza Stark Phenotypes for gene: FANCA were changed from Fanconi anaemia, complementation group A, MIM# 227650; MONDO:0009215 to Fanconi anaemia, complementation group A, MIM# 227650; MONDO:0009215
Growth failure v0.28 FANCB Zornitza Stark Marked gene: FANCB as ready
Growth failure v0.28 FANCB Zornitza Stark Gene: fancb has been classified as Green List (High Evidence).
Growth failure v0.28 FANCB Zornitza Stark Phenotypes for gene: FANCB were changed from Fanconi anemia, complementation group B, 300514; Falcon anemia; VACTERL Association with Hydrocephalus; Fanconi Anaemia; Fanconi Anemia Type B; 300514 Fanconi anemia, complementation group B; Fanconi anemia; Fanconi Anemia, X-Linked to Fanconi anaemia, complementation group B, MIM# 300514
Growth failure v0.27 FANCB Zornitza Stark Publications for gene: FANCB were set to
Growth failure v0.26 FANCB Zornitza Stark Mode of inheritance for gene: FANCB 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
Growth failure v0.25 FANCB Zornitza Stark changed review comment from: Well established gene-disease association.

Fanconi anaemia causes genomic instability and is characterised by multiple congenital anomalies including radial ray abnormalities and microcephaly, and early-onset bone marrow failure.; to: Well established gene-disease association.

Fanconi anaemia causes genomic instability and is characterised by multiple congenital anomalies including radial ray abnormalities and microcephaly, and early-onset bone marrow failure. Poor growth is a key feature.
Growth failure v0.25 FANCA Zornitza Stark Marked gene: FANCA as ready
Growth failure v0.25 FANCA Zornitza Stark Gene: fanca has been classified as Green List (High Evidence).
Growth failure v0.25 FANCA Zornitza Stark Phenotypes for gene: FANCA were changed from hypogonadism and reduced fertility; Fanconi Anemia; bone marrow failure; a typical facial appearance with small head, eyes, and mouth; 227650 Fanconi anemia complementation group A; cutaneous abnormalities (hyper- or hypopigmentation and cafe-au-lait spots); hearing loss; Fanconi anemia; and susceptibility to cancer, predominantly acute myeloid leukemia.; Fanconi anemia, complementation group A, 227650; malformations of the kidneys, heart, and skeleton (absent or abnormal thumbs and radii); pre- and postnatal growth retardation to Fanconi anaemia, complementation group A, MIM# 227650; MONDO:0009215
Growth failure v0.24 FANCA Zornitza Stark Publications for gene: FANCA were set to 16493006; 8896563
Growth failure v0.23 FANCA Zornitza Stark changed review comment from: Well established gene-disease association.

Fanconi anaemia causes genomic instability and is characterised by multiple congenital anomalies including radial ray abnormalities and microcephaly, early-onset bone marrow failure, and a predisposition to cancer. ; to: Well established gene-disease association.

Fanconi anaemia causes genomic instability and is characterised by multiple congenital anomalies including radial ray abnormalities and microcephaly, early-onset bone marrow failure, and a predisposition to cancer. Growth failure is a key feature.
Growth failure v0.23 ERCC4 Zornitza Stark Marked gene: ERCC4 as ready
Growth failure v0.23 ERCC4 Zornitza Stark Gene: ercc4 has been classified as Green List (High Evidence).
Growth failure v0.23 ERCC4 Zornitza Stark Phenotypes for gene: ERCC4 were changed from 615272 Fanconi anemia, complementation group Q; Fanconi anemia, complementation group Q, 615272 to Fanconi anemia, complementation group Q, MIM# 615272; MONDO:0014108; XFE progeroid syndrome, MIM# 610965; MONDO:0012590
Growth failure v0.22 ERCC4 Zornitza Stark Publications for gene: ERCC4 were set to 23623386; 23623389; 24027083
Growth failure v0.21 ERCC4 Zornitza Stark changed review comment from: Excision repair defect resulting in a range of phenotypes. Growth failure is a key feature of FA.; to: Excision repair defect resulting in a range of phenotypes. Growth failure is a key feature of FA and of progeroid syndrome.
Growth failure v0.21 ERCC4 Zornitza Stark edited their review of gene: ERCC4: Changed phenotypes: Fanconi anemia, complementation group Q, MIM# 615272, MONDO:0014108, XFE progeroid syndrome, MIM# 610965, MONDO:0012590
Growth failure v0.21 ERCC4 Zornitza Stark changed review comment from: Excision repair defect resulting in a range of phenotypes.; to: Excision repair defect resulting in a range of phenotypes. Growth failure is a key feature of FA.
Growth failure v0.21 CUL7 Zornitza Stark Marked gene: CUL7 as ready
Growth failure v0.21 CUL7 Zornitza Stark Gene: cul7 has been classified as Green List (High Evidence).
Growth failure v0.21 CUL7 Zornitza Stark Phenotypes for gene: CUL7 were changed from 3M; 3-M syndrome 1, 273750 to 3-M syndrome 1, MIM# 273750; Yakut short stature syndrome
Growth failure v0.20 CUL7 Zornitza Stark Publications for gene: CUL7 were set to
Growth failure v0.19 CUL7 Zornitza Stark reviewed gene: CUL7: Rating: GREEN; Mode of pathogenicity: None; Publications: 16142236, 19225462, 17675530; Phenotypes: 3-M syndrome 1, MIM# 273750, Yakut short stature syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Growth failure v0.19 CDKN1C Zornitza Stark edited their review of gene: CDKN1C: Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Growth failure v0.19 CDKN1C Zornitza Stark Marked gene: CDKN1C as ready
Growth failure v0.19 CDKN1C Zornitza Stark Gene: cdkn1c has been classified as Green List (High Evidence).
Growth failure v0.19 CDKN1C Zornitza Stark Phenotypes for gene: CDKN1C were changed from Beckwith-Wiedemann syndrome, 130650; Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, and Genital Anomalies; SRS/BWS to IMAGe syndrome, MIM# 614732; Silver-Russell syndrome
Growth failure v0.18 CDKN1C Zornitza Stark Publications for gene: CDKN1C were set to
Growth failure v0.17 CDKN1C Zornitza Stark Mode of pathogenicity for gene: CDKN1C 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
Growth failure v0.16 CDKN1C Zornitza Stark edited their review of gene: CDKN1C: 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
Growth failure v0.16 CDKN1C Zornitza Stark changed review comment from: IMAGe syndrome is a rare multisystem disorder characterized by intrauterine growth restriction, metaphyseal dysplasia, congenital adrenal hypoplasia, and genital anomalies. Patients with this condition may present shortly after birth with severe adrenal insufficiency, which can be life-threatening if not recognized early and steroid replacement therapy commenced. Other reported features in this condition include hypercalciuria and/or hypocalcemia, craniosynostosis, cleft palate, and scoliosis.

Reported variants are gain-of-function missense on the maternal allele, and are located in a highly-conserved "hot-spot" within the PCNA-binding domain of CDKN1C between codons 272-279. Note 3 families reported with RSS phenotype without other IMAGE features, all with missense changes at amino acid positions 279 and 281.; to: IMAGe syndrome is a rare multisystem disorder characterized by intrauterine growth restriction, metaphyseal dysplasia, congenital adrenal hypoplasia, and genital anomalies. Patients with this condition may present shortly after birth with severe adrenal insufficiency, which can be life-threatening if not recognized early and steroid replacement therapy commenced. Other reported features in this condition include hypercalciuria and/or hypocalcemia, craniosynostosis, cleft palate, and scoliosis.

Reported variants are gain-of-function missense on the maternal allele, and are located in a highly-conserved "hot-spot" within the PCNA-binding domain of CDKN1C between codons 272-279. Note 3 families reported with RSS phenotype without other IMAGE features, all with missense changes at amino acid positions 279 and 281.

Note LoF variants in this gene cause overgrowth and BWS.
Growth failure v0.16 CDKN1C Zornitza Stark reviewed gene: CDKN1C: Rating: GREEN; Mode of pathogenicity: None; Publications: 22634751, 33076988, 31976094, 31497289; Phenotypes: IMAGe syndrome, MIM# 614732, Silver-Russell syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Growth failure v0.16 CCDC8 Zornitza Stark Marked gene: CCDC8 as ready
Growth failure v0.16 CCDC8 Zornitza Stark Gene: ccdc8 has been classified as Green List (High Evidence).
Growth failure v0.16 CCDC8 Zornitza Stark Phenotypes for gene: CCDC8 were changed from 3M; 3-M syndrome 3, 614205 to 3-M syndrome 3, MIM# 614205
Growth failure v0.15 CCDC8 Zornitza Stark Publications for gene: CCDC8 were set to 21737058
Growth failure v0.14 CCDC8 Zornitza Stark reviewed gene: CCDC8: Rating: GREEN; Mode of pathogenicity: None; Publications: 21737058, 22325252, 28675896, 28675896; Phenotypes: 3-M syndrome 3, MIM# 614205; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Growth failure v0.14 CBL Zornitza Stark Marked gene: CBL as ready
Growth failure v0.14 CBL Zornitza Stark Gene: cbl has been classified as Green List (High Evidence).
Growth failure v0.14 CBL Zornitza Stark Phenotypes for gene: CBL were changed from Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia; NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MEYLOMONOCYTIC LEUKEMIA to Noonan syndrome-like disorder with or without juvenile myelomonocytic leukaemia, MIM# 613563; CBL-related disorder, MONDO:0013308
Growth failure v0.13 BRIP1 Zornitza Stark Marked gene: BRIP1 as ready
Growth failure v0.13 BRIP1 Zornitza Stark Gene: brip1 has been classified as Green List (High Evidence).
Growth failure v0.13 BRIP1 Zornitza Stark Phenotypes for gene: BRIP1 were changed from Fanconi anemia, complementation group J, 609054; 609054 Fanconi anemia, complementation group J to Fanconi anaemia, complementation group J, MIM# 609054
Growth failure v0.12 BRIP1 Zornitza Stark changed review comment from: Well established gene-disease association.; to: Well established gene-disease association. Prenatal and postnatal growth failure is a key feature of FA.
Growth failure v0.12 BRCA2 Zornitza Stark Marked gene: BRCA2 as ready
Growth failure v0.12 BRCA2 Zornitza Stark Gene: brca2 has been classified as Green List (High Evidence).
Growth failure v0.12 BRCA2 Zornitza Stark Phenotypes for gene: BRCA2 were changed from Fanconi anemia, complementation group D1, 605724; 605724 Fanconi anemia, complementation group D1 to Fanconi anaemia, complementation group D1, MIM# 605724
Growth failure v0.11 BRCA2 Zornitza Stark changed review comment from: Well established gene-disease association.; to: Well established gene-disease association. Pre-natal and post-natal growth failure is a key feature.
Growth failure v0.11 BRAF Zornitza Stark Marked gene: BRAF as ready
Growth failure v0.11 BRAF Zornitza Stark Gene: braf has been classified as Green List (High Evidence).
Growth failure v0.11 BRAF Zornitza Stark Phenotypes for gene: BRAF were changed from Noonan Syndrome; LEOPARD Syndrome; Cardiofaciocutaneous Syndrome; Cardiofaciocutaneous syndrome; Cardio-facio-cutaneous syndrome; LEOPARD syndrome 3 to Noonan syndrome 7, MIM# 613706; Cardiofaciocutaneous syndrome, MIM# 115150
Growth failure v0.10 BRAF Zornitza Stark Publications for gene: BRAF were set to 16474404; 21396583; 16825433; 19206169
Growth failure v0.9 BRAF Zornitza Stark changed review comment from: Well established gene-disease association.; to: Well established gene-disease association. Growth failure, feeding difficulties, short stature are prominent early presenting features.
Growth failure v0.9 BLM Zornitza Stark Marked gene: BLM as ready
Growth failure v0.9 BLM Zornitza Stark Gene: blm has been classified as Green List (High Evidence).
Growth failure v0.9 BLM Zornitza Stark Phenotypes for gene: BLM were changed from Bloom syndrome, 210900; 210900 Bloom syndrome; Bloom to Bloom syndrome, MIM# 210900
Growth failure v0.8 BLM Zornitza Stark changed review comment from: Well established gene-disease association.; to: Well established gene-disease association. Proportionate pre- and postnatal growth deficiency is a key feature.
Growth failure v0.8 ANKRD11 Zornitza Stark Marked gene: ANKRD11 as ready
Growth failure v0.8 ANKRD11 Zornitza Stark Gene: ankrd11 has been classified as Green List (High Evidence).
Growth failure v0.8 ANKRD11 Zornitza Stark Phenotypes for gene: ANKRD11 were changed from KBG syndrome, 148050; KBG to KBG syndrome, MIM# 148050
Growth failure v0.7 ANKRD11 Zornitza Stark Publications for gene: ANKRD11 were set to 21782149
Growth failure v0.6 ANKRD11 Zornitza Stark reviewed gene: ANKRD11: Rating: GREEN; Mode of pathogenicity: None; Publications: 33955014, 32258089, 32124548, 31191201, 29565525, 28449295; Phenotypes: KBG syndrome, MIM# 148050; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Growth failure v0.6 ACAN Zornitza Stark Marked gene: ACAN as ready
Growth failure v0.6 ACAN Zornitza Stark Gene: acan has been classified as Green List (High Evidence).
Growth failure v0.6 ACAN Zornitza Stark Phenotypes for gene: ACAN were changed from Spondyloepimetaphyseal dysplasia, aggrecan type (AR), 612813; ?Spondyloepiphyseal dysplasia, Kimberley type (AD), 608361; short stature, accelerated bone maturation, Spondyloepiphyseal dysplasia, early onset osteoarthritis; Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans (AD), 165800 to Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans, MIM# 165800; Spondyloepimetaphyseal dysplasia, aggrecan type, MIM# 612813
Growth failure v0.5 ACAN Zornitza Stark Publications for gene: ACAN were set to 24762113; 27870580
Growth failure v0.4 ACAN Zornitza Stark Mode of inheritance for gene: ACAN 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
Growth failure v0.3 ACAN Zornitza Stark reviewed gene: ACAN: Rating: GREEN; Mode of pathogenicity: None; Publications: 28331218, 20137779, 24762113, 19110214, 30124491; Phenotypes: Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans, MIM# 165800, Spondyloepimetaphyseal dysplasia, aggrecan type, MIM# 612813; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Growth failure v0.0 ZPR1 Zornitza Stark gene: ZPR1 was added
gene: ZPR1 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Red
Mode of inheritance for gene: ZPR1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ZPR1 were set to 29851065
Phenotypes for gene: ZPR1 were set to ?Growth restriction, hypoplastic kidneys, alopecia, and distinctive facies, OMIM:619321
Growth failure v0.0 XRCC4 Zornitza Stark gene: XRCC4 was added
gene: XRCC4 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Red
Mode of inheritance for gene: XRCC4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: XRCC4 were set to 25728776
Phenotypes for gene: XRCC4 were set to short stature, microcephaly, hypothyroidism, diabetes mellitus, progressive ataxia, hypergonadotrophic hypogonadism
Growth failure v0.0 WRN Zornitza Stark gene: WRN was added
gene: WRN was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Red
Mode of inheritance for gene: WRN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WRN were set to Werner syndrome
Growth failure v0.0 THRB Zornitza Stark gene: THRB was added
gene: THRB was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Red
Mode of inheritance for gene: THRB was set to Unknown
Growth failure v0.0 TBCE Zornitza Stark gene: TBCE was added
gene: TBCE was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Red
Mode of inheritance for gene: TBCE was set to BIALLELIC, autosomal or pseudoautosomal
Growth failure v0.0 STAT5B Zornitza Stark gene: STAT5B was added
gene: STAT5B was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Red
Mode of inheritance for gene: STAT5B was set to BIALLELIC, autosomal or pseudoautosomal
Growth failure v0.0 SPRED1 Zornitza Stark gene: SPRED1 was added
gene: SPRED1 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Red
Mode of inheritance for gene: SPRED1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SPRED1 were set to 21548021; 17704776; 19443465; 19366998; 21649642
Phenotypes for gene: SPRED1 were set to Legius Syndrome; Neurofibromatosis-like syndrome
Growth failure v0.0 SOX3 Zornitza Stark gene: SOX3 was added
gene: SOX3 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Red
Mode of inheritance for gene: SOX3 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: SOX3 were set to 15800844
Phenotypes for gene: SOX3 were set to Panhypopituitarism, X-linked, OMIM:312000; Mental retardation, X-linked, with isolated growth hormone deficiency, OMIM:300123; Panhypopituitarism, X-linked, MONDO:0010712; Intellectual disability, X-linked, with panhypopituitarism, MONDO:0010252
Mode of pathogenicity for gene: SOX3 was set to Other - please provide details in the comments
Growth failure v0.0 SOX2 Zornitza Stark gene: SOX2 was added
gene: SOX2 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Red
Mode of inheritance for gene: SOX2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Growth failure v0.0 SMC3 Zornitza Stark gene: SMC3 was added
gene: SMC3 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Red
Mode of inheritance for gene: SMC3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SMC3 were set to Cornelia De Lange
Growth failure v0.0 SMC1A Zornitza Stark gene: SMC1A was added
gene: SMC1A was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Red
Mode of inheritance for gene: SMC1A was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: SMC1A were set to Developmental and epileptic encephalopathy, 85, with or without midline brain defects, MONDO:0026771; Cornelia de Lange syndrome 2, MONDO:0010370; Cornelia de Lange syndrome 2, OMIM:300590; Developmental and epileptic encephalopathy 85, with or without midline brain defects, OMIM:301044
Growth failure v0.0 SMARCAL1 Zornitza Stark gene: SMARCAL1 was added
gene: SMARCAL1 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Red
Mode of inheritance for gene: SMARCAL1 was set to Unknown
Growth failure v0.0 SHOX2 Zornitza Stark gene: SHOX2 was added
gene: SHOX2 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Red
Mode of inheritance for gene: SHOX2 was set to Unknown
Growth failure v0.0 SHOX Zornitza Stark gene: SHOX was added
gene: SHOX was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Red
Mode of inheritance for gene: SHOX was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Growth failure v0.0 SAMD9 Zornitza Stark gene: SAMD9 was added
gene: SAMD9 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Red
Mode of inheritance for gene: SAMD9 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SAMD9 were set to 27182967
Phenotypes for gene: SAMD9 were set to MIRAGE syndrome, 617053
Mode of pathogenicity for gene: SAMD9 was set to Other - please provide details in the comments
Growth failure v0.0 RPS6KA3 Zornitza Stark gene: RPS6KA3 was added
gene: RPS6KA3 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Red
Mode of inheritance for gene: RPS6KA3 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: RPS6KA3 were set to Coffin Lowry
Growth failure v0.0 RPL10 Zornitza Stark gene: RPL10 was added
gene: RPL10 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Red
Mode of inheritance for gene: RPL10 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: RPL10 were set to 25316788
Phenotypes for gene: RPL10 were set to Mental retardation, X-linked, syndromic, 35
Growth failure v0.0 ROR2 Zornitza Stark gene: ROR2 was added
gene: ROR2 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Red
Mode of inheritance for gene: ROR2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ROR2 were set to Robinow
Growth failure v0.0 RNU4ATAC Zornitza Stark gene: RNU4ATAC was added
gene: RNU4ATAC was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Red
Mode of inheritance for gene: RNU4ATAC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RNU4ATAC were set to 21474760
Phenotypes for gene: RNU4ATAC were set to MOPD I
Growth failure v0.0 RBBP8 Zornitza Stark gene: RBBP8 was added
gene: RBBP8 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Red
Mode of inheritance for gene: RBBP8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RBBP8 were set to 24389050, 21998596
Phenotypes for gene: RBBP8 were set to seckel syndrome but with proportionate head/height impairment, cafe au lair macules
Growth failure v0.0 RAPSN Zornitza Stark gene: RAPSN was added
gene: RAPSN was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Red
Mode of inheritance for gene: RAPSN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RAPSN were set to Fetal Akinesia Deformation Sequence; Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency, 608931Myasthenic syndrome, congenital, associated with facial dysmorphism and acetylcholine receptordeficiency, 608931Fetal akinesia deformation sequence, 208150
Growth failure v0.0 RAD21 Zornitza Stark gene: RAD21 was added
gene: RAD21 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Red
Mode of inheritance for gene: RAD21 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: RAD21 were set to Cornelia De Lange
Growth failure v0.0 PROP1 Zornitza Stark gene: PROP1 was added
gene: PROP1 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Red
Mode of inheritance for gene: PROP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PROP1 were set to Pituitary hormone deficiency, combined
Growth failure v0.0 PROKR2 Zornitza Stark gene: PROKR2 was added
gene: PROKR2 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Red
Mode of inheritance for gene: PROKR2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: PROKR2 were set to 22319038
Phenotypes for gene: PROKR2 were set to hypopituitarism, Hypoplastic corpus callosum, normal or small anterior pituitary, Club foot, syrinx spinal cord, microcephaly, epilepsy
Growth failure v0.0 POU1F1 Zornitza Stark gene: POU1F1 was added
gene: POU1F1 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Red
Mode of inheritance for gene: POU1F1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: POU1F1 were set to GH, PRL deficiencies; variable degree of TSH deficiency
Growth failure v0.0 PNPLA6 Zornitza Stark gene: PNPLA6 was added
gene: PNPLA6 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Red
Mode of inheritance for gene: PNPLA6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PNPLA6 were set to 25480986
Phenotypes for gene: PNPLA6 were set to Oliver-Mcfarlane syndrome, Trichomegaly, GH deficiency, retinal dystrophy, hypogonadotrophic hypogonadism
Growth failure v0.0 PITX2 Zornitza Stark gene: PITX2 was added
gene: PITX2 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Red
Mode of inheritance for gene: PITX2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PITX2 were set to AXENFELD-RIEGER SYNDROME
Growth failure v0.0 PCNT Zornitza Stark gene: PCNT was added
gene: PCNT was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Red
Mode of inheritance for gene: PCNT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PCNT were set to 18157127; 18174396
Phenotypes for gene: PCNT were set to Seckel syndrome, MOPD type II - growth restrction, microcephaly, prominent nose, micrognathia, squeaky voice, insulin resistance, 210720; MOPDII
Growth failure v0.0 PAPPA2 Zornitza Stark gene: PAPPA2 was added
gene: PAPPA2 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Red
Mode of inheritance for gene: PAPPA2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PAPPA2 were set to 26902202
Phenotypes for gene: PAPPA2 were set to Proportionate Short Stature, High Circulating IGF-I, IGFBP-3, and ALS, Mild Microcephaly, thin Long Bones and Decreased Bone Mineral Density
Growth failure v0.0 OTX2 Zornitza Stark gene: OTX2 was added
gene: OTX2 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Red
Mode of inheritance for gene: OTX2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: OTX2 were set to 18728160
Phenotypes for gene: OTX2 were set to Microcephaly, bilateral anopthalmia, developmental delay, cleft palate
Growth failure v0.0 ORC6 Zornitza Stark gene: ORC6 was added
gene: ORC6 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Red
Mode of inheritance for gene: ORC6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ORC6 were set to 21358632
Phenotypes for gene: ORC6 were set to Meier-Gorlin; micrognathia, patellar aplasia/hypoplasia, microtia, mammary hypoplasia; Meier-Gorlin syndrome 3, 613803
Growth failure v0.0 ORC4 Zornitza Stark gene: ORC4 was added
gene: ORC4 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Red
Mode of inheritance for gene: ORC4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ORC4 were set to 21358632
Phenotypes for gene: ORC4 were set to Meier-Gorlin syndrome 2, 613800; micrognathia, patellar aplasia/hypoplasia, microtia, mammary hypoplasia; Meier-Gorlin
Growth failure v0.0 ORC1 Zornitza Stark gene: ORC1 was added
gene: ORC1 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Red
Mode of inheritance for gene: ORC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ORC1 were set to 21358632
Phenotypes for gene: ORC1 were set to Meier-Gorlin syndrome 1, 224690; microtia, beaked nose, patellar aplasia/hypoplasia, mammary hypoplasia, micrognathia; Meier-Gorlin
Growth failure v0.0 NIPBL Zornitza Stark gene: NIPBL was added
gene: NIPBL was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Red
Mode of inheritance for gene: NIPBL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: NIPBL were set to Cornelia De Lange
Growth failure v0.0 MCM5 Zornitza Stark gene: MCM5 was added
gene: MCM5 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Red
Mode of inheritance for gene: MCM5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MCM5 were set to 28198391
Phenotypes for gene: MCM5 were set to ?Meier-Gorlin syndrome 8
Growth failure v0.0 LIG4 Zornitza Stark gene: LIG4 was added
gene: LIG4 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Red
Mode of inheritance for gene: LIG4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LIG4 were set to 11779494, 16088910,
Phenotypes for gene: LIG4 were set to microcephaly, growth retardation, immunodeficiency, developmental delay
Growth failure v0.0 LIG1 Zornitza Stark gene: LIG1 was added
gene: LIG1 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Red
Mode of inheritance for gene: LIG1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LIG1 were set to 1581963, 1351188
Phenotypes for gene: LIG1 were set to immunodeficiency, sun sensitivity, growth reatrdation
Growth failure v0.0 LHX4 Zornitza Stark gene: LHX4 was added
gene: LHX4 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Red
Mode of inheritance for gene: LHX4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: LHX4 were set to 11567216, 18073311
Phenotypes for gene: LHX4 were set to hypopituitarism
Growth failure v0.0 LHX3 Zornitza Stark gene: LHX3 was added
gene: LHX3 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Red
Mode of inheritance for gene: LHX3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LHX3 were set to GH, TSH, LH, FSH, PRL deficiencies
Growth failure v0.0 KMT2D Zornitza Stark gene: KMT2D was added
gene: KMT2D was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Red
Mode of inheritance for gene: KMT2D was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: KMT2D were set to Kabuki
Growth failure v0.0 KHDC3L Zornitza Stark gene: KHDC3L was added
gene: KHDC3L was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Red
Mode of inheritance for gene: KHDC3L was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: KHDC3L were set to 29574422
Phenotypes for gene: KHDC3L were set to pregnancy loss; Hydatidiform mole, recurrent, 2 OMIM:614293; hydatidiform mole, recurrent, 2 MONDO:0013671; Failure to thrive; IUGR
Growth failure v0.0 KDM6A Zornitza Stark gene: KDM6A was added
gene: KDM6A was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Red
Mode of inheritance for gene: KDM6A was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: KDM6A were set to Kabuki
Growth failure v0.0 INTS8 Zornitza Stark gene: INTS8 was added
gene: INTS8 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Red
Mode of inheritance for gene: INTS8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: INTS8 were set to 28542170
Phenotypes for gene: INTS8 were set to ?Neurodevelopmental disorder with cerebellar hypoplasia and spasticity, OMIM:618572
Growth failure v0.0 INSR Zornitza Stark gene: INSR was added
gene: INSR was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Red
Mode of inheritance for gene: INSR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: INSR were set to Leprechaunism
Growth failure v0.0 IGFBP3 Zornitza Stark gene: IGFBP3 was added
gene: IGFBP3 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Red
Mode of inheritance for gene: IGFBP3 was set to Unknown
Publications for gene: IGFBP3 were set to 10364674
Phenotypes for gene: IGFBP3 were set to Silver Russell Syndrome
Growth failure v0.0 IGFBP1 Zornitza Stark gene: IGFBP1 was added
gene: IGFBP1 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Red
Mode of inheritance for gene: IGFBP1 was set to Unknown
Publications for gene: IGFBP1 were set to 10364674
Phenotypes for gene: IGFBP1 were set to Silver-Russell Syndrome
Growth failure v0.0 IGFALS Zornitza Stark gene: IGFALS was added
gene: IGFALS was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Red
Mode of inheritance for gene: IGFALS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IGFALS were set to 14762184
Phenotypes for gene: IGFALS were set to very low IGF-I levels; Short stature; delayed puberty
Growth failure v0.0 IFT172 Zornitza Stark gene: IFT172 was added
gene: IFT172 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Red
Mode of inheritance for gene: IFT172 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IFT172 were set to 25664603
Phenotypes for gene: IFT172 were set to GH deficiency, retinopathy, metaphyseal dysplasia
Growth failure v0.0 HESX1 Zornitza Stark gene: HESX1 was added
gene: HESX1 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Red
Mode of inheritance for gene: HESX1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: HESX1 were set to Septo-optic dysplasia; variable involvement of pituitary hormones
Growth failure v0.0 HDAC8 Zornitza Stark gene: HDAC8 was added
gene: HDAC8 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Red
Mode of inheritance for gene: HDAC8 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: HDAC8 were set to Cornelia De Lange
Growth failure v0.0 H19 Zornitza Stark gene: H19 was added
gene: H19 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Red
Mode of inheritance for gene: H19 was set to Unknown
Phenotypes for gene: H19 were set to Russell-Silver syndrome
Growth failure v0.0 GPR161 Zornitza Stark gene: GPR161 was added
gene: GPR161 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Red
Mode of inheritance for gene: GPR161 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GPR161 were set to 25322266
Phenotypes for gene: GPR161 were set to Short stature with hypopituitarism, intellectual disability, sparse or absent hair in the frontal area, hypotelorism, broad nasal root, thick alae nasi, nail hypoplasia, short fifth finger, 2-3 toe syndactyl. MRI showed hypoplastic pituitary gland, empty sella, ectopic neurohypophysis, and interrupted pituitary stalk
Growth failure v0.0 GLI3 Zornitza Stark gene: GLI3 was added
gene: GLI3 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Red
Mode of inheritance for gene: GLI3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GLI3 were set to 9054938
Phenotypes for gene: GLI3 were set to Pallister-Hall syndrome
Growth failure v0.0 GLI2 Zornitza Stark gene: GLI2 was added
gene: GLI2 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Red
Mode of inheritance for gene: GLI2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: GLI2 were set to Holoprosencephaly, hypopituitarism
Growth failure v0.0 GHSR Zornitza Stark gene: GHSR was added
gene: GHSR was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Red
Mode of inheritance for gene: GHSR was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: GHSR were set to 16511605
Phenotypes for gene: GHSR were set to Idiopathic short stature, GH deficiency
Growth failure v0.0 GHRHR Zornitza Stark gene: GHRHR was added
gene: GHRHR was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Red
Mode of inheritance for gene: GHRHR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GHRHR were set to Growth hormone deficiency
Growth failure v0.0 GHR Zornitza Stark gene: GHR was added
gene: GHR was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Red
Mode of inheritance for gene: GHR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GHR were set to Laron syndrome
Growth failure v0.0 GH1 Zornitza Stark gene: GH1 was added
gene: GH1 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Red
Mode of inheritance for gene: GH1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: GH1 were set to Growth hormone deficiency
Growth failure v0.0 FGFR1 Zornitza Stark gene: FGFR1 was added
gene: FGFR1 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Red
Mode of inheritance for gene: FGFR1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FGFR1 were set to 22319038
Growth failure v0.0 FGF8 Zornitza Stark gene: FGF8 was added
gene: FGF8 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Red
Mode of inheritance for gene: FGF8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FGF8 were set to 22319038
Phenotypes for gene: FGF8 were set to hypopituitarism, absent corpus callosum, Holoprosencephaly, Moebius syndrome, craniofacial defects, high arched palate, maxillary hypoplasia, microcepahly, spastic diplegia
Growth failure v0.0 FGD1 Zornitza Stark gene: FGD1 was added
gene: FGD1 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Red
Mode of inheritance for gene: FGD1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: FGD1 were set to Aarskog
Growth failure v0.0 FANCM Zornitza Stark gene: FANCM was added
gene: FANCM was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Red
Mode of inheritance for gene: FANCM was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FANCM were set to 16116422; 25078778; 19423727
Phenotypes for gene: FANCM were set to Fanconi anemia, complementation group M, 614087; Fanconi anemia; Fanconi Anemia
Growth failure v0.0 ERCC8 Zornitza Stark gene: ERCC8 was added
gene: ERCC8 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Red
Mode of inheritance for gene: ERCC8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ERCC8 were set to cockayne
Growth failure v0.0 ERCC6 Zornitza Stark gene: ERCC6 was added
gene: ERCC6 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Red
Mode of inheritance for gene: ERCC6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ERCC6 were set to Cockayne syndrome, type B, 133540
Growth failure v0.0 EPHX1 Zornitza Stark gene: EPHX1 was added
gene: EPHX1 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Red
Mode of inheritance for gene: EPHX1 was set to Unknown
Phenotypes for gene: EPHX1 were set to ?Fetal hydantoin syndromeDiphenylhydantoin toxicityHypercholanemia, familial, 607748{Preeclampsia, susceptibility to}, 189800
Growth failure v0.0 EP300 Zornitza Stark gene: EP300 was added
gene: EP300 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Red
Mode of inheritance for gene: EP300 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: EP300 were set to Rubenstein Taybi
Growth failure v0.0 DOK7 Zornitza Stark gene: DOK7 was added
gene: DOK7 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Red
Mode of inheritance for gene: DOK7 was set to Unknown
Phenotypes for gene: DOK7 were set to Myasthenia, limb-girdle, familial, 254300Fetal akinesia deformation sequence, 208150
Growth failure v0.0 DNA2 Zornitza Stark gene: DNA2 was added
gene: DNA2 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Red
Mode of inheritance for gene: DNA2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DNA2 were set to 24389050; 31045292
Phenotypes for gene: DNA2 were set to Seckel syndrome 8, OMIM:615807
Growth failure v0.0 DHCR7 Zornitza Stark gene: DHCR7 was added
gene: DHCR7 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Red
Mode of inheritance for gene: DHCR7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DHCR7 were set to Smith Lemli Opitz
Growth failure v0.0 CRIPT Zornitza Stark gene: CRIPT was added
gene: CRIPT was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Red
Mode of inheritance for gene: CRIPT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CRIPT were set to PMC3912419
Phenotypes for gene: CRIPT were set to frontal bossing, high forehead, sparse hair and eyebrows, telecanthus, mild proptosis (staring look), upturned nostrils, and hypoplastic terminal phalanges with brachydactyly
Growth failure v0.0 CREBBP Zornitza Stark gene: CREBBP was added
gene: CREBBP was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Red
Mode of inheritance for gene: CREBBP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CREBBP were set to Rubenstein Taybi
Growth failure v0.0 COL1A1 Zornitza Stark gene: COL1A1 was added
gene: COL1A1 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Red
Mode of inheritance for gene: COL1A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: COL1A1 were set to Osteogenesis imperfecta, type I, 166200; Osteogenesis imperfecta, type II, 166210; Osteogenesis imperfecta, type III, 259420; OI; Osteogenesis imperfecta, type IV, 166220
Growth failure v0.0 CHD7 Zornitza Stark gene: CHD7 was added
gene: CHD7 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Red
Mode of inheritance for gene: CHD7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CHD7 were set to 16400610
Phenotypes for gene: CHD7 were set to CHARGE syndrome, 214800; CHARGE syndrome - ocular coloboma, choanal atresia, cranial nerve defects, distinctive external and inner ear abnormalities, hearing loss, cardiovascular malformations, urogenital anomalies, and growth retardation
Growth failure v0.0 CENPJ Zornitza Stark gene: CENPJ was added
gene: CENPJ was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Red
Mode of inheritance for gene: CENPJ was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CENPJ were set to 20522431
Phenotypes for gene: CENPJ were set to seckel syndrome
Growth failure v0.0 CDT1 Zornitza Stark gene: CDT1 was added
gene: CDT1 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Red
Mode of inheritance for gene: CDT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CDT1 were set to 21358632
Phenotypes for gene: CDT1 were set to Meier-Gorlin syndrome 4, 613804; micrognathia, microtia, patellar hypoplasia/aplasia, mammary hypoplasia; Meier-Gorlin
Growth failure v0.0 CDC6 Zornitza Stark gene: CDC6 was added
gene: CDC6 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Red
Mode of inheritance for gene: CDC6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CDC6 were set to 21358632
Phenotypes for gene: CDC6 were set to patellar hypoplasia/aplasia, microtia, meier-gorlin syndrome, mammary hypoplasia; ?Meier-Gorlin syndrome 5, 613805
Growth failure v0.0 BTK Zornitza Stark gene: BTK was added
gene: BTK was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Red
Mode of inheritance for gene: BTK was set to Unknown
Growth failure v0.0 ATRX Zornitza Stark gene: ATRX was added
gene: ATRX was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Red
Mode of inheritance for gene: ATRX was set to Unknown
Phenotypes for gene: ATRX were set to SGA, which is sometimes called intrauterine growth restriction (IUGR),
Growth failure v0.0 ATRIP Zornitza Stark gene: ATRIP was added
gene: ATRIP was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Red
Mode of inheritance for gene: ATRIP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ATRIP were set to 23144622
Phenotypes for gene: ATRIP were set to microcephaly, micrognathia, small ear lobes, dental crowding
Growth failure v0.0 ZFP57 Zornitza Stark gene: ZFP57 was added
gene: ZFP57 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Amber
Mode of inheritance for gene: ZFP57 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ZFP57 were set to 18622393
Phenotypes for gene: ZFP57 were set to diabetes mellitus, transient neonatal, 1MONDO:0011073; Diabetes mellitus, transient neonatal 1 OMIM:601410; IUGR; Multi Locus Imprinting Disturbance
Growth failure v0.0 RNPC3 Zornitza Stark gene: RNPC3 was added
gene: RNPC3 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Amber
Mode of inheritance for gene: RNPC3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RNPC3 were set to 32462814; 29866761; 24480542
Phenotypes for gene: RNPC3 were set to ?Growth hormone deficiency, isolated, type V, 618160; isolated growth hormone deficiency
Growth failure v0.0 RAP1B Zornitza Stark gene: RAP1B was added
gene: RAP1B was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Amber
Mode of inheritance for gene: RAP1B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: RAP1B were set to 26280580; 32627184
Phenotypes for gene: RAP1B were set to short stature; Syndromic intellectual disability
Growth failure v0.0 PLK4 Zornitza Stark gene: PLK4 was added
gene: PLK4 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Amber
Mode of inheritance for gene: PLK4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PLK4 were set to 27650967; 25320347; 25344692
Phenotypes for gene: PLK4 were set to microcephaly and chorioretinopathy 2, MONDO:0014516; Microcephaly and chorioretinopathy, autosomal recessive, 2, OMIM:616171
Growth failure v0.0 PADI6 Zornitza Stark gene: PADI6 was added
gene: PADI6 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Amber
Mode of inheritance for gene: PADI6 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: PADI6 were set to 33221824; 32928291; 29574422
Phenotypes for gene: PADI6 were set to miscarriages in the family; Preimplantation embryonic lethality 2 OMIM:617234; Short stature; preimplantation embryonic lethality 2 MONDO:0014978; Multi Locus Imprinting Disturbance; IUGR; Beckwith-Wiedemann syndrome
Growth failure v0.0 NLRP7 Zornitza Stark gene: NLRP7 was added
gene: NLRP7 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Amber
Mode of inheritance for gene: NLRP7 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: NLRP7 were set to 28561018
Phenotypes for gene: NLRP7 were set to hydatidiform mole, recurrent, 1 MONDO:0009273; Short stature; fetal wastage; Hydatidiform mole, recurrent, 1 OMIM:231090; IUGR; Multi Locus Imprinting Disturbance
Growth failure v0.0 NLRP5 Zornitza Stark gene: NLRP5 was added
gene: NLRP5 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Amber
Mode of inheritance for gene: NLRP5 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: NLRP5 were set to 26323243; 29574422
Phenotypes for gene: NLRP5 were set to body asymmetry; Short stature; Failure to thrive; multilocus imprinting disturbances; IUGR
Growth failure v0.0 NLRP2 Zornitza Stark gene: NLRP2 was added
gene: NLRP2 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Amber
Mode of inheritance for gene: NLRP2 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: NLRP2 were set to 30877238; 33090377; 29574422; 26323243; 19300480
Phenotypes for gene: NLRP2 were set to Maternal effect gene- causing phenotypes that include IUGR
Growth failure v0.0 NHLRC2 Zornitza Stark gene: NHLRC2 was added
gene: NHLRC2 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Amber
Mode of inheritance for gene: NHLRC2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NHLRC2 were set to 29423877; 32435055
Phenotypes for gene: NHLRC2 were set to FINCA syndrome OMIM:618278
Growth failure v0.0 NBAS Zornitza Stark gene: NBAS was added
gene: NBAS was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Amber
Mode of inheritance for gene: NBAS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NBAS were set to 31761904
Phenotypes for gene: NBAS were set to Short stature, optic nerve atrophy, and Pelger-Huet anomaly, 614800
Growth failure v0.0 MTX2 Zornitza Stark gene: MTX2 was added
gene: MTX2 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Amber
Mode of inheritance for gene: MTX2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MTX2 were set to 32917887
Phenotypes for gene: MTX2 were set to Mandibuloacral dysplasia; growth retardation; arterial calcification; lipodystrophy
Growth failure v0.0 MSTO1 Zornitza Stark gene: MSTO1 was added
gene: MSTO1 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Amber
Mode of inheritance for gene: MSTO1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MSTO1 were set to 29339779; 28554942; 31604776; 28544275; 31130378
Phenotypes for gene: MSTO1 were set to Myopathy, mitochondrial, and ataxia, OMIM:617675
Growth failure v0.0 KDM3B Zornitza Stark gene: KDM3B was added
gene: KDM3B was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Amber
Mode of inheritance for gene: KDM3B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: KDM3B were set to 30929739
Phenotypes for gene: KDM3B were set to Behavioral abnormality; Seizures; Global developmental delay; Short stature; Intellectual disability
Growth failure v0.0 INTS1 Zornitza Stark gene: INTS1 was added
gene: INTS1 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Amber
Mode of inheritance for gene: INTS1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: INTS1 were set to 28542170; 31428919; 30622326
Phenotypes for gene: INTS1 were set to Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies, OMIM:618571, MONDO:0032817
Growth failure v0.0 FOXP4 Zornitza Stark gene: FOXP4 was added
gene: FOXP4 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Amber
Mode of inheritance for gene: FOXP4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: FOXP4 were set to 33110267
Phenotypes for gene: FOXP4 were set to Neurodevelopmental disorder; multiple congenital abnormalities
Growth failure v0.0 COG4 Zornitza Stark gene: COG4 was added
gene: COG4 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Amber
Mode of inheritance for gene: COG4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: COG4 were set to 30290151; 31949312
Phenotypes for gene: COG4 were set to microcephalic osteodysplastic dysplasia, Saul-Wilson type, MONDO:0019407; Saul-Wilson syndrome, OMIM:618150
Mode of pathogenicity for gene: COG4 was set to Other
Growth failure v0.0 CEP57 Zornitza Stark gene: CEP57 was added
gene: CEP57 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Amber
Mode of inheritance for gene: CEP57 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CEP57 were set to 24259107; 21552266
Phenotypes for gene: CEP57 were set to Mosaic variegated aneuploidy syndrome 2, 614114
Growth failure v0.0 CCDC186 Zornitza Stark gene: CCDC186 was added
gene: CCDC186 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Amber
Mode of inheritance for gene: CCDC186 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CCDC186 were set to 33259146; 28600779
Phenotypes for gene: CCDC186 were set to failure to thrive and developmental delay
Growth failure v0.0 ANAPC1 Zornitza Stark gene: ANAPC1 was added
gene: ANAPC1 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Amber
Mode of inheritance for gene: ANAPC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ANAPC1 were set to 31303264
Phenotypes for gene: ANAPC1 were set to Rothmund Thomson syndrome type 1, OMIM:618625, MONDO:0016368
Growth failure v0.0 UBE2T Zornitza Stark gene: UBE2T was added
gene: UBE2T was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: UBE2T was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: UBE2T were set to 26046368
Phenotypes for gene: UBE2T were set to Falcon anemia; 616435 Fanconi anemia, complementation group T; Fanconi anemia, complementation group T, 616435
Growth failure v0.0 TRIM37 Zornitza Stark gene: TRIM37 was added
gene: TRIM37 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: TRIM37 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TRIM37 were set to Mulibrey nanism; Mulibery Nanism, 253250
Growth failure v0.0 TOP3A Zornitza Stark gene: TOP3A was added
gene: TOP3A was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: TOP3A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TOP3A were set to Microcephaly, growth restriction, and increased sister chromatid exchange 2; MGRISCE2 (Bloom-like syndrome) 618097; 618097 MGRISCE2 (Bloom-like syndrome)
Growth failure v0.0 SRCAP Zornitza Stark gene: SRCAP was added
gene: SRCAP was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: SRCAP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SRCAP were set to Floating-Harbor syndrome, 136140; Floating Harbor
Growth failure v0.0 SOS2 Zornitza Stark gene: SOS2 was added
gene: SOS2 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: SOS2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SOS2 were set to 25795793; 26173643
Phenotypes for gene: SOS2 were set to Noonan syndrome 9
Mode of pathogenicity for gene: SOS2 was set to Other - please provide details in the comments
Growth failure v0.0 SOS1 Zornitza Stark gene: SOS1 was added
gene: SOS1 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: SOS1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SOS1 were set to 17143285; 17586837; 17143282; 19438935
Phenotypes for gene: SOS1 were set to Noonan syndrome; Rasopathy; Noonan syndrome 4
Mode of pathogenicity for gene: SOS1 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Growth failure v0.0 SLX4 Zornitza Stark gene: SLX4 was added
gene: SLX4 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: SLX4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLX4 were set to 21240275; 21240277
Phenotypes for gene: SLX4 were set to 613951 Fanconi Anemia Fanconi anemia, complementation group P; Fanconi anemia, complementation group P, 613951; Fanconi Anemia
Growth failure v0.0 SHOC2 Zornitza Stark gene: SHOC2 was added
gene: SHOC2 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: SHOC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SHOC2 were set to 23918763; 19684605; 22528146
Phenotypes for gene: SHOC2 were set to Noonan with loss of anagen hair; Noonan-like syndrome with loose anagen hair
Mode of pathogenicity for gene: SHOC2 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Growth failure v0.0 RIT1 Zornitza Stark gene: RIT1 was added
gene: RIT1 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: RIT1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RIT1 were set to 24939608; 25124994; 23791108
Phenotypes for gene: RIT1 were set to Rasopathy; Noonan syndrome type 8; Noonan syndrome 8
Mode of pathogenicity for gene: RIT1 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Growth failure v0.0 RAF1 Zornitza Stark gene: RAF1 was added
gene: RAF1 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: RAF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RAF1 were set to 17603483; 17603482
Phenotypes for gene: RAF1 were set to Noonan syndrome 5; Noonan syndrome; LEOPARD syndrome 2; Rasopathy; LEOPARD syndrome
Mode of pathogenicity for gene: RAF1 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Growth failure v0.0 PTPN11 Zornitza Stark gene: PTPN11 was added
gene: PTPN11 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: PTPN11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PTPN11 were set to 16263833; 17603483; 17497712; 12634870; 11704759; 18678287; 15384080; 15240615; 12529711
Phenotypes for gene: PTPN11 were set to Noonan syndrome; LEOPARD syndrome 1; Noonan syndrome 1; LEOPARD syndrome
Mode of pathogenicity for gene: PTPN11 was set to Other - please provide details in the comments
Growth failure v0.0 PPP1CB Zornitza Stark gene: PPP1CB was added
gene: PPP1CB was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: PPP1CB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: PPP1CB were set to 27264673; 27681385; 28211982
Phenotypes for gene: PPP1CB were set to Noonan syndrome-like disorder with loose anagen hair 2, 617506; Rasopathy with developmental delay, short stature and sparse slow-growing hair
Growth failure v0.0 PLAG1 Zornitza Stark gene: PLAG1 was added
gene: PLAG1 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: PLAG1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PLAG1 were set to 28796236
Phenotypes for gene: PLAG1 were set to SRS; Silver-Russell syndrome
Growth failure v0.0 PIK3R1 Zornitza Stark gene: PIK3R1 was added
gene: PIK3R1 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: PIK3R1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PIK3R1 were set to SHORT syndrome, 269880; SHORT
Growth failure v0.0 PALB2 Zornitza Stark gene: PALB2 was added
gene: PALB2 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: PALB2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PALB2 were set to 17200672; 17200671
Phenotypes for gene: PALB2 were set to Fanconi anemia, complementation group N, 610832; 610832 Fanconi anemia, complementation group N
Growth failure v0.0 OBSL1 Zornitza Stark gene: OBSL1 was added
gene: OBSL1 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: OBSL1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: OBSL1 were set to 21737058
Phenotypes for gene: OBSL1 were set to 3M; 3-M syndrome 2, 612921
Growth failure v0.0 NRAS Zornitza Stark gene: NRAS was added
gene: NRAS was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: NRAS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NRAS were set to 19966803; 19775298
Phenotypes for gene: NRAS were set to Cardio-Facio-cutanenous syndrome; A restricted spectrum of NRAS mutations causes Noonan syndrome. (Nat Genet. 42: 27-29, 2010.); Noonan syndrome; CFC Syndrome; Noonan syndrome 6
Mode of pathogenicity for gene: NRAS was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Growth failure v0.0 NBN Zornitza Stark gene: NBN was added
gene: NBN was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: NBN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NBN were set to Nijmegen; Nijmegen breakage syndrome, 251260
Growth failure v0.0 MAP2K2 Zornitza Stark gene: MAP2K2 was added
gene: MAP2K2 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: MAP2K2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MAP2K2 were set to 16439621; 21396583; 23379592
Phenotypes for gene: MAP2K2 were set to CFC syndrome; Cardiofaciocutaneous Syndrome; Cardiofaciocutaneous syndrome; Cardiofaciocutaneous syndrome 4; Cardio-Facio-Cutaneous syndrome; Cardio-Facio-Cutaneous syndrome type 4
Mode of pathogenicity for gene: MAP2K2 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Growth failure v0.0 MAP2K1 Zornitza Stark gene: MAP2K1 was added
gene: MAP2K1 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: MAP2K1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MAP2K1 were set to 23321623; 16439621; 21396583; 16825433
Phenotypes for gene: MAP2K1 were set to Cardiofaciocutaneous syndrome 3; CFC syndrome; ?Noonan syndrome; Cardiofaciocutaneous Syndrome; Cardiofaciocutaneous syndrome; Cardio-Facio-Cutaneous syndrome; LEOPARD syndrome
Mode of pathogenicity for gene: MAP2K1 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Growth failure v0.0 LZTR1 Zornitza Stark gene: LZTR1 was added
gene: LZTR1 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: LZTR1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: LZTR1 were set to 29469822; 25795793
Phenotypes for gene: LZTR1 were set to increased nuchal translucency; Prenatal hydrops; cardiac findings; Noonan syndrome 10
Growth failure v0.0 KRAS Zornitza Stark gene: KRAS was added
gene: KRAS was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: KRAS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KRAS were set to 21396583
Phenotypes for gene: KRAS were set to Noonan syndrome 3; CFC syndrome; Cardiofaciocutaneous syndrome 2; Cardiofaciocutaneous Syndrome; Noonan syndrome; Rasopathy; Cardio-Facio-Cutaneous syndrome
Mode of pathogenicity for gene: KRAS was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Growth failure v0.0 IGF2 Zornitza Stark gene: IGF2 was added
gene: IGF2 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: IGF2 was set to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Publications for gene: IGF2 were set to 26154720
Phenotypes for gene: IGF2 were set to Pre- and post-natal growth failure; SRS; ?Growth restriction, severe, with distinctive facies, 616489; Silver-Russell phenptype; IUGR
Growth failure v0.0 IGF1R Zornitza Stark gene: IGF1R was added
gene: IGF1R was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: IGF1R was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: IGF1R were set to 15q-Del; Insulin likegrowthfactorI,resistanceto,270450; Insulin-Like Growth Factor I Resistance
Growth failure v0.0 IGF1 Zornitza Stark gene: IGF1 was added
gene: IGF1 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: IGF1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IGF1 were set to Insulin-Like Growth Factor I Deficiency; Growth retardation with deafness and mental retardation due to IGF1 deficiency, 608747; IGF1
Growth failure v0.0 HRAS Zornitza Stark gene: HRAS was added
gene: HRAS was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: HRAS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: HRAS were set to 16969868; 16443854; 21396583; 16170316
Phenotypes for gene: HRAS were set to Costello syndrome, 218040; Costello; Costello syndrome
Mode of pathogenicity for gene: HRAS was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Growth failure v0.0 HMGA2 Zornitza Stark gene: HMGA2 was added
gene: HMGA2 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: HMGA2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: HMGA2 were set to 29655892
Phenotypes for gene: HMGA2 were set to Silver-Russell syndrome 5, MONDO:0020795; Silver-Russell syndrome 5, OMIM:618908
Growth failure v0.0 FGFR3 Zornitza Stark gene: FGFR3 was added
gene: FGFR3 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: FGFR3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: FGFR3 were set to Hypochondroplasia, 146000
Growth failure v0.0 FANCL Zornitza Stark gene: FANCL was added
gene: FANCL was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: FANCL was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FANCL were set to 25754594; 12724401; 19405097; 12973351; 16474160
Phenotypes for gene: FANCL were set to Fanconi anemia; 614083Fanconi anemia, complementation group L; Fanconi anemia, complementation group L, 614083; Fanconi Anemia
Growth failure v0.0 FANCI Zornitza Stark gene: FANCI was added
gene: FANCI was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: FANCI was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FANCI were set to 17452773; 11239453
Phenotypes for gene: FANCI were set to 609053 Fanconi anemia, complementation group I; Fanconi anemia; Fanconi anemia, complementation group I, 609053; Fanconi Anemia
Growth failure v0.0 FANCG Zornitza Stark gene: FANCG was added
gene: FANCG was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: FANCG was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FANCG were set to 16493006; 9806548
Phenotypes for gene: FANCG were set to 614082 Fanconi anemia, complementation group G; hypogonadism and reduced fertility; Fanconi Anemia; bone marrow failure; a typical facial appearance with small head, eyes, and mouth; cutaneous abnormalities (hyper- or hypopigmentation and cafe-au-lait spots); hearing loss; Fanconi anemia; and susceptibility to cancer, predominantly acute myeloid leukemia.; Fanconi anemia, complementation group G, 614082; Fanconi anemia complementation group G; malformations of the kidneys, heart, and skeleton (absent or abnormal thumbs and radii); pre- and postnatal growth retardation
Growth failure v0.0 FANCF Zornitza Stark gene: FANCF was added
gene: FANCF was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: FANCF was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FANCF were set to 10615118
Phenotypes for gene: FANCF were set to Fanconi anemia, complementation group F, 603467; Fanconi anemia; 603467 Fanconi anemia, complementation group F; Fanconi Anemia
Growth failure v0.0 FANCE Zornitza Stark gene: FANCE was added
gene: FANCE was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: FANCE was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FANCE were set to 7662964; 10205272; 9147877; 9382107
Phenotypes for gene: FANCE were set to Fanconi anemia; Fanconi anemia, complementation group E, 600901; 600901 Fanconi anemia, complementation group E; Fanconi Anemia
Growth failure v0.0 FANCD2 Zornitza Stark gene: FANCD2 was added
gene: FANCD2 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: FANCD2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FANCD2 were set to 11239454
Phenotypes for gene: FANCD2 were set to Fanconi anemia; 227646 Fanconi anemia, complementation group D2; Fanconi anemia, complementation group D2, 227646; Fanconi Anemia
Growth failure v0.0 FANCC Zornitza Stark gene: FANCC was added
gene: FANCC was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: FANCC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FANCC were set to 16493006; 1574115
Phenotypes for gene: FANCC were set to hypogonadism and reduced fertility; Fanconi Anemia; bone marrow failure; a typical facial appearance with small head, eyes, and mouth; Fanconi anemia, complementation group C, 227645; cutaneous abnormalities (hyper- or hypopigmentation and cafe-au-lait spots); hearing loss; Fanconi anemia; and susceptibility to cancer, predominantly acute myeloid leukemia.; 227645 Fanconi anemia, complementation group C; malformations of the kidneys, heart, and skeleton (absent or abnormal thumbs and radii); pre- and postnatal growth retardation
Growth failure v0.0 FANCB Zornitza Stark gene: FANCB was added
gene: FANCB was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: FANCB was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: FANCB were set to Fanconi anemia, complementation group B, 300514; Falcon anemia; VACTERL Association with Hydrocephalus; Fanconi Anaemia; Fanconi Anemia Type B; 300514 Fanconi anemia, complementation group B; Fanconi anemia; Fanconi Anemia, X-Linked
Growth failure v0.0 FANCA Zornitza Stark gene: FANCA was added
gene: FANCA was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: FANCA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FANCA were set to 16493006; 8896563
Phenotypes for gene: FANCA were set to hypogonadism and reduced fertility; Fanconi Anemia; bone marrow failure; a typical facial appearance with small head, eyes, and mouth; 227650 Fanconi anemia complementation group A; cutaneous abnormalities (hyper- or hypopigmentation and cafe-au-lait spots); hearing loss; Fanconi anemia; and susceptibility to cancer, predominantly acute myeloid leukemia.; Fanconi anemia, complementation group A, 227650; malformations of the kidneys, heart, and skeleton (absent or abnormal thumbs and radii); pre- and postnatal growth retardation
Growth failure v0.0 ERCC4 Zornitza Stark gene: ERCC4 was added
gene: ERCC4 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: ERCC4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ERCC4 were set to 23623386; 23623389; 24027083
Phenotypes for gene: ERCC4 were set to 615272 Fanconi anemia, complementation group Q; Fanconi anemia, complementation group Q, 615272
Growth failure v0.0 CUL7 Zornitza Stark gene: CUL7 was added
gene: CUL7 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: CUL7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CUL7 were set to 3M; 3-M syndrome 1, 273750
Growth failure v0.0 CDKN1C Zornitza Stark gene: CDKN1C was added
gene: CDKN1C was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: CDKN1C was set to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Phenotypes for gene: CDKN1C were set to Beckwith-Wiedemann syndrome, 130650; Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, and Genital Anomalies; SRS/BWS
Growth failure v0.0 CCDC8 Zornitza Stark gene: CCDC8 was added
gene: CCDC8 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: CCDC8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CCDC8 were set to 21737058
Phenotypes for gene: CCDC8 were set to 3M; 3-M syndrome 3, 614205
Growth failure v0.0 CBL Zornitza Stark gene: CBL was added
gene: CBL was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: CBL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CBL were set to 20619386; 20543203; 19571318
Phenotypes for gene: CBL were set to Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia; NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MEYLOMONOCYTIC LEUKEMIA
Mode of pathogenicity for gene: CBL was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Growth failure v0.0 BRIP1 Zornitza Stark gene: BRIP1 was added
gene: BRIP1 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: BRIP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BRIP1 were set to 14630800; 16153896; 16116424; 16116423
Phenotypes for gene: BRIP1 were set to Fanconi anemia, complementation group J, 609054; 609054 Fanconi anemia, complementation group J
Growth failure v0.0 BRCA2 Zornitza Stark gene: BRCA2 was added
gene: BRCA2 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: BRCA2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BRCA2 were set to 24395671; 11239453; 14670928; 12065746; 28185119
Phenotypes for gene: BRCA2 were set to Fanconi anemia, complementation group D1, 605724; 605724 Fanconi anemia, complementation group D1
Growth failure v0.0 BRAF Zornitza Stark gene: BRAF was added
gene: BRAF was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: BRAF was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: BRAF were set to 16474404; 21396583; 16825433; 19206169
Phenotypes for gene: BRAF were set to Noonan Syndrome; LEOPARD Syndrome; Cardiofaciocutaneous Syndrome; Cardiofaciocutaneous syndrome; Cardio-facio-cutaneous syndrome; LEOPARD syndrome 3
Mode of pathogenicity for gene: BRAF was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Growth failure v0.0 BLM Zornitza Stark gene: BLM was added
gene: BLM was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: BLM was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BLM were set to Bloom syndrome, 210900; 210900 Bloom syndrome; Bloom
Growth failure v0.0 ANKRD11 Zornitza Stark gene: ANKRD11 was added
gene: ANKRD11 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: ANKRD11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ANKRD11 were set to 21782149
Phenotypes for gene: ANKRD11 were set to KBG syndrome, 148050; KBG
Growth failure v0.0 ACAN Zornitza Stark gene: ACAN was added
gene: ACAN was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: ACAN was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: ACAN were set to 24762113; 27870580
Phenotypes for gene: ACAN were set to Spondyloepimetaphyseal dysplasia, aggrecan type (AR), 612813; ?Spondyloepiphyseal dysplasia, Kimberley type (AD), 608361; short stature, accelerated bone maturation, Spondyloepiphyseal dysplasia, early onset osteoarthritis; Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans (AD), 165800
Growth failure v0.0 Zornitza Stark Added panel Growth failure in early childhood