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CXXC repeat containing interactor of PDZ3 domain
OMIM: 604594, Gene2Phenotype

10 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 10 panels
Green CRIPT in IUGR and IGF abnormalities Level 3: Growth hormone disorders Level 2: Endocrine disorders Version 1.70	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes frontal bossing, high forehead, sparse hair and eyebrows, telecanthus, mild proptosis (staring look), upturned nostrils, and hypoplastic terminal phalanges with brachydactyly
Amber CRIPT in Limb disorders Level 2: Musculoskeletal Version 9.6 Latest signed off version: v9.0 (12 Aug 2026) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Rothmund-Thomson syndrome, type 3, OMIM:615789 Rothmund-Thomson syndrome type 3, MONDO:0014347 Tags Q3_26_promote_green
Amber CRIPT in Ectodermal dysplasia Level 2: Dermatology Version 5.9 Latest signed off version: v5.4 (12 Aug 2026)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Rothmund-Thomson syndrome, type 3, OMIM:615789 Rothmund-Thomson syndrome type 3, MONDO:0014347 Tags Q3_26_promote_green
Amber CRIPT in Pigmentary skin disorders Level 2: Dermatology Version 5.17 Latest signed off version: v5.12 (12 Aug 2026)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Rothmund-Thomson syndrome, type 3, OMIM:615789 Rothmund-Thomson syndrome type 3, MONDO:0014347 Tags Q3_26_promote_green
Amber CRIPT in Severe microcephaly Level 2: Neurology Version 9.32 Latest signed off version: v9.13 (12 Aug 2026)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Amber Other Phenotypes Rothmund-Thomson syndrome, type 3, OMIM:615789 Rothmund-Thomson syndrome type 3, MONDO:0014347 Tags Q3_26_promote_green
Green CRIPT in Fetal anomalies Level 2: Fetal (including NIPD) Version 8.7 Latest signed off version: v8.0 (12 Aug 2026)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Short stature with microcephaly and distinctive facies, 615789
Green CRIPT in DDG2P Version 8.2 Latest signed off version: v8.0 (12 Aug 2026) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green DD-Gene2Phenotype Phenotypes SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES 615789
Amber CRIPT in Early onset or syndromic epilepsy Level 2: Neurology Version 9.84 Latest signed off version: v9.56 (12 Aug 2026) Component of the following Super Panels: Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Rothmund-Thomson syndrome, type 3, OMIM:615789 Rothmund-Thomson syndrome type 3, MONDO:0014347 Tags Q3_26_promote_green
Amber CRIPT in Intellectual disability Level 2: Developmental disorders Version 11.31 Latest signed off version: v11.0 (12 Aug 2026) Component of the following Super Panels: Hypotonic infant Leukodystrophy, childhood onset Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Rothmund-Thomson syndrome, type 3, OMIM:615789 Rothmund-Thomson syndrome type 3, MONDO:0014347 Tags Q3_26_promote_green
Red CRIPT in Monogenic short stature Level 2: Endocrinology Version 2.9 Latest signed off version: v2.8 (12 Aug 2026)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes frontal bossing, high forehead, sparse hair and eyebrows, telecanthus, mild proptosis (staring look), upturned nostrils, and hypoplastic terminal phalanges with brachydactyly